Albert de la Chapelle

Albert de la Chapelle's AcademicInfluence.com Rankings

Biology

#1262

World Rank

#2141

Historical Rank

Genetics

#129

World Rank

#166

Historical Rank

biology Degrees

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Biology

Albert de la Chapelle's Degrees

Doctorate Medicine University of Helsinki
PhD Medical Genetics University of Helsinki

Why Is Albert de la Chapelle Influential?

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According to Wikipedia, Albert Fredrik de la Chapelle, MD, Ph.D was a Finnish human geneticist, long-time head of Finland's first Department of Medical Genetics at the University of Helsinki, and subsequently professor of Human Cancer Genetics at Ohio State University. He was best known for his role in the elucidation of the genetics of hereditary colorectal cancer and Lynch syndrome.

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Albert de la Chapelle's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. (2015) (3718)
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. (2004) (2947)
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer (1993) (2347)
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome (1998) (1673)
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer (1994) (1620)
Cancer risk in mutation carriers of DNA‐mismatch‐repair genes (1999) (1287)
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene (1995) (1255)
The role of microRNA genes in papillary thyroid carcinoma. (2005) (1244)
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. (1998) (1177)
Hypermutability and mismatch repair deficiency in RER+ tumor cells (1993) (1060)
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). (2005) (1028)
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure (1995) (913)
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability (1995) (845)
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. (2000) (842)
Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma (2008) (834)
The sex-determining region of the human Y chromosome encodes a finger protein (1987) (816)
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. (2008) (804)
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping (1994) (758)
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein (1996) (734)
Genetic susceptibility to non-polyposis colorectal cancer (1999) (682)
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland (1992) (584)
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (2006) (565)
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. (2000) (538)
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis (1997) (522)
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. (2008) (516)
Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) (1996) (488)
Loss-of-Function Mutations in PPARγ Associated with Human Colon Cancer (1999) (486)
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles (2001) (468)
Identification of Lynch syndrome among patients with colorectal cancer. (2012) (456)
Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia (2001) (453)
Hereditary Colorectal Cancer (1990) (450)
[Sex determination]. (1971) (439)
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer (2017) (419)
Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea (1996) (408)
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. (1994) (403)
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. (2005) (398)
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations (2009) (393)
Downregulation of Death-Associated Protein Kinase 1 (DAPK1) in Chronic Lymphocytic Leukemia (2007) (391)
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. (1993) (375)
Reprogramming of miRNA networks in cancer and leukemia. (2010) (374)
Genetic predisposition to colorectal cancer (2004) (372)
A deletion map of the human Y chromosome based on DNA hybridization. (1986) (360)
Risks of Lynch syndrome cancers for MSH6 mutation carriers. (2010) (346)
Founding mutations and Alu-mediated recombination in hereditary colon cancer (1995) (334)
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (2003) (330)
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer (1994) (328)
GENETIC SUSCEPTIBILITY TO NONPOLYPOSIS COLORECTAL CANCER (1999) (323)
Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. (2001) (318)
Disease gene mapping in isolated human populations: the example of Finland. (1993) (314)
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. (2014) (313)
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 (1999) (307)
Polymorphic mature microRNAs from passenger strand of pre-miR-146a contribute to thyroid cancer (2009) (305)
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (1999) (302)
Gene expression and functional evidence of epithelial-to-mesenchymal transition in papillary thyroid carcinoma invasion (2007) (299)
Galectin-3, fibronectin-1, CITED-1, HBME1 and cytokeratin-19 immunohistochemistry is useful for the differential diagnosis of thyroid tumors (2005) (299)
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D3 (2001) (299)
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. (1996) (295)
Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia. (1986) (293)
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. (2000) (292)
Discovery of common and rare genetic risk variants for colorectal cancer (2018) (279)
Clinical relevance of microsatellite instability in colorectal cancer. (2010) (278)
Conversion of diploidy to haploidy (2000) (274)
The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. (2004) (273)
The intrinsic factor–vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein (1999) (270)
Clinical significance of cytogenetics in acute myeloid leukemia. (1997) (266)
Mutations in CUBN, encoding the intrinsic factor-vitamin B 12 receptor, cubilin, cause hereditary megaloblastic anaemia 1 (1999) (253)
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. (2001) (252)
BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study. (2003) (250)
Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study. (2005) (249)
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. (1996) (248)
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. (1998) (243)
Report of the Committee on Chromosome Rearrangements in Neoplasia and on Fragile Sites. (1984) (242)
Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. (1998) (241)
The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type (2012) (239)
Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer. (2001) (238)
Semiautomated assessment of loss of heterozygosity and replication error in tumors. (1996) (236)
Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles (2004) (235)
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I (2011) (231)
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 (1997) (227)
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. (2003) (218)
Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. (2001) (216)
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (2001) (211)
Mutations predisposing to hereditary nonpolyposis colorectal cancer. (1997) (207)
Discovery of common variants associated with low TSH levels and thyroid cancer risk (2012) (207)
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (2005) (205)
A deletion in chromosome 22 can cause digeorge syndrome (2004) (198)
High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60 years with acute myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study. (2008) (190)
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. (1995) (185)
Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes. (2004) (184)
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes (1985) (184)
Clinical significance of chromosomal abnormalities in acute lymphoblastic leukemia. (1984) (183)
PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers. (2002) (183)
The clinical significance of karyotype in acute myelogenous leukemia. (1989) (181)
Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis. (2000) (180)
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications (2006) (177)
Aberrant expression of an amplified c-myb oncogene in two cell lines from a colon carcinoma. (1984) (175)
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism (2000) (173)
The Incidence of Lynch Syndrome (2004) (171)
Loss-of-function mutations in PPAR gamma associated with human colon cancer. (1999) (166)
Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. (1996) (166)
Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187 (1992) (164)
The frequency of Muir-Torre syndrome among Lynch syndrome families. (2008) (164)
Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease (2014) (163)
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. (1991) (163)
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. (1993) (160)
Mutations in KERA, encoding keratocan, cause cornea plana (2000) (157)
BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia (2001) (156)
Papillary and follicular thyroid carcinomas show distinctly different microarray expression profiles and can be distinguished by a minimum of five genes. (2004) (156)
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies (1990) (154)
Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer (2008) (153)
Six-year follow-up of the clinical significance of karyotype in acute lymphoblastic leukemia. (1989) (151)
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene (1990) (144)
Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. (1998) (144)
Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers. (1999) (142)
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia (2003) (137)
The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means? (2011) (136)
Fetal lymphocytes in the maternal blood. (1972) (135)
Predictive genetic testing for hereditary non‐polyposis colorectal cancer: Uptake and long‐term satisfaction (2000) (135)
MSH2 and MLH1 mutations in sporadic replication error‐positive colorectal carcinoma as assessed by two‐dimensional DNA electrophoresis (1997) (133)
The etiology of maleness in XX men (2004) (133)
In-depth characterization of the microRNA transcriptome in normal thyroid and papillary thyroid carcinoma. (2013) (131)
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. (1999) (131)
Polymerase δ variants in RER colorectal tumours (1995) (130)
Chromosomal abnormalities and their clinical significance in acute lymphoblastic leukemia. Third International Workshop on Chromosomes in Leukemia. (1983) (130)
FETAL LEUKOCYTES IN THE MATERNAL CIRCULATION AFTER DELIVERY: Cytological Aspects (1974) (130)
Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males (1986) (129)
Pericentric inversions of human chromosomes 9 and 10. (1974) (129)
Mismatch Repair Gene PMS2 (2004) (129)
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. (2002) (129)
MicroRNAs in thyroid cancer. (2010) (129)
Cancer Risks for PMS2-Associated Lynch Syndrome. (2018) (128)
Clonal chromosomal abnormalities showing multiple-cell-lineage involvement in acute myeloid leukemia. (1988) (125)
Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. (2005) (122)
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer (2018) (121)
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. (1987) (119)
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome (1995) (118)
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (1999) (117)
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. (2009) (115)
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. (1999) (114)
Monoamine oxidase deficiency in males with an X chromosome deletion (1989) (111)
Human type I procollagen genes are located on different chromosomes. (1982) (108)
Analytic review: nature and origin of males with XX sex chromosomes. (1972) (108)
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques (2003) (107)
Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing. (1999) (107)
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. (1994) (106)
Trisomy 12 in B cells of patients with B-cell chronic lymphocytic leukemia. (1986) (106)
An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness (1987) (105)
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. (1996) (105)
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. (1998) (104)
Chromosome Y-specific DNA in related human XX males (1985) (104)
Monosomy 7 in granulocytes and monocytes in myelodysplastic syndrome. (1987) (103)
Clozapine-induced agranulocytosis (1977) (103)
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. (1994) (102)
Hypermethylation, but not LOH, is associated with the low expression of MT1G and CRABP1 in papillary thyroid carcinoma (2003) (101)
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. (1997) (101)
Pallister‐Killian syndrome: cytogenetic and molecular studies (1987) (100)
Culture of bone marrow reveals more cells with chromosomal abnormalities than the direct method in patients with hematologic disorders. (1981) (100)
Somatic acquisition and signaling of TGFBR1*6A in cancer. (2005) (99)
MicroRNA signature in thyroid fine needle aspiration cytology applied to "atypia of undetermined significance" cases. (2012) (99)
p53 Codon 72 and MDM2 SNP309 Polymorphisms and Age of Colorectal Cancer Onset in Lynch Syndrome (2005) (99)
Erythroid cell-development in fetal mice: synthetic capacity for different proteins. (1968) (97)
Prostate cancer incidence in males with Lynch syndrome (2013) (97)
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis (1993) (96)
A genome-wide association study yields five novel thyroid cancer risk loci (2017) (95)
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males (1987) (94)
Genetic evidence of X–Y interchange in a human XX male (1984) (94)
Genetic predisposition to papillary thyroid carcinoma: involvement of FOXE1, TSHR, and a novel lincRNA gene, PTCSC2. (2015) (94)
Cancer Risks for Relatives of Patients With Serrated Polyposis (2012) (93)
Long‐range PCR facilitates the identification of PMS2‐specific mutations (2006) (93)
Thyroid hormone receptor beta (THRB) is a major target gene for microRNAs deregulated in papillary thyroid carcinoma (PTC). (2011) (93)
Gene expression profiling of isogenic cells with different TP53 gene dosage reveals numerous genes that are affected by TP53 dosage and identifies CSPG2 as a direct target of p53 (2002) (93)
ACUTE MYELOGENOUS LEUKAEMIA WITH C-MYC AMPLIFICATION AND DOUBLE MINUTE CHROMOSOMES (1985) (92)
Testing tumors for microsatellite instability (1999) (91)
Aberrant splicing of the CHM gene is a significant cause of choroideremia (1992) (90)
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005) (90)
A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. (1994) (88)
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. (1994) (88)
Biallelic MUTYH mutations can mimic Lynch syndrome (2014) (88)
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. (1998) (88)
Chromosome abnormalities in acute nonlymphocytic leukemia: clinical and biologic significance. (1987) (88)
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy (1999) (88)
Evidence for heritable predisposition to epigenetic silencing of MLH1 (2007) (87)
Familial erythrocytosis genetically linked to erythropoietin receptor gene (1993) (87)
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease (2010) (87)
Abnormalities of chromosome No. 17 in myeloproliferative disorders. (1982) (86)
The distribution of linkage disequilibrium over anonymous genome regions. (1995) (86)
Recurrent germline mutation in MSH2arises frequently de novo (2000) (86)
An interspersed repeated sequence specific for human subtelomeric regions. (1990) (85)
Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping. (1989) (85)
Recessive sex-determining genes in human XX male syndrome (1978) (83)
Risk Factors for Colorectal Cancer in Patients with Multiple Serrated Polyps: A Cross-Sectional Case Series from Genetics Clinics (2010) (83)
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 (2017) (83)
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis (1985) (81)
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina (2002) (81)
Cartilage-hair hypoplasia. (1995) (80)
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. (1998) (80)
BAALC, a novel marker of human hematopoietic progenitor cells. (2003) (79)
Disease gene mapping in isolated human populations: the example of Finland. (1993) (79)
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. (2004) (79)
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East (2004) (79)
Cumulative Burden of Colorectal Cancer-Associated Genetic Variants is More Strongly Associated With Early-onset vs Late-onset Cancer. (2019) (78)
A method for simultaneous study of the karyotype, morphology, and immunologic phenotype of mitotic cells in hematologic malignancies. (1984) (77)
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. (1995) (76)
Microsatellite instability in cervical and endometrial carcinomas (1997) (76)
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis (1994) (76)
Mutation patterns identify adult patients with de novo acute myeloid leukemia aged 60 years or older who respond favorably to standard chemotherapy: an analysis of Alliance studies (2018) (76)
Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. (2007) (75)
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability (1998) (74)
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. (2020) (74)
A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition (2015) (74)
Genetic testing for cancer predisposition. (2001) (74)
Human chronic lymphocytic leukemia: Karyotypes in different lymphocyte populations (1979) (73)
Hashimoto's thyroiditis with papillary thyroid carcinoma (PTC)‐like nuclear alterations express molecular markers of PTC (2004) (73)
Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer (2015) (73)
Cytogenetical and clinical observations in female gonadal dysgenesis. (1962) (72)
Tooth sizes in two males with deletions of the long arm of the Y‐chromosome (1981) (71)
Defective chemotaxis in monosomy-7 (1977) (71)
Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse. (1989) (70)
SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. (2013) (68)
Cumulative risk impact of five genetic variants associated with papillary thyroid carcinoma. (2013) (68)
Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells (2020) (67)
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. (2006) (66)
MYH9 binds to lncRNA gene PTCSC2 and regulates FOXE1 in the 9q22 thyroid cancer risk locus (2017) (66)
The 1985 human gene map and human gene mapping in 1985. (1985) (66)
Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses (2019) (66)
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. (1990) (66)
Tgfbr1 haploinsufficiency is a potent modifier of colorectal cancer development. (2009) (65)
miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia. (2012) (65)
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. (1995) (64)
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. (1994) (64)
CITED1 protein expression suggests Papillary Thyroid Carcinoma in high throughput tissue microarray-based study. (2004) (63)
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD) (1999) (62)
Clinical implications of monosomy 7 in acute nonlymphocytic leukemia (1980) (62)
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. (1992) (62)
PTCSC3 Is Involved in Papillary Thyroid Carcinoma Development by Modulating S100A4 Gene Expression. (2015) (61)
The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia (2017) (61)
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. (1999) (61)
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. (1992) (60)
The I1307K polymorphism of the APC gene in colorectal cancer. (1999) (59)
Genetics of hereditary colon cancer. (1995) (59)
The Land Between Mendelian and Multifactorial Inheritance (2001) (58)
Synthesis of embryonic hemoglobins during erythroid cell development in fetal mice. (1969) (58)
PMS2 monoallelic mutation carriers: the known unknown (2015) (58)
Gender verification of female athletes (2000) (57)
MSH6 missense mutations are often associated with no or low cancer susceptibility (2004) (57)
Identification of a novel noncoding RNA gene, NAMA, that is downregulated in papillary thyroid carcinoma with BRAF mutation and associated with growth arrest (2007) (57)
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin (2000) (57)
Gender verification in the Olympics. (2000) (56)
Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter. (2006) (56)
Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. (1996) (56)
Molecular analysis of hemophilia A mutations in the Finnish population. (1990) (55)
Lambda Ig constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8;22). (1983) (54)
8‐trisomy in the bone marrow. Report of two cases (1972) (54)
A novel CACNA1F gene mutation causes Aland Island eye disease. (2007) (53)
Chromosome 16 and bone-marrow eosinophilia. (1983) (53)
Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia (2014) (53)
Marked Amine and Amine Metabolite Changes in Norrie Disease Patients with an X‐Chromosomal Deletion Affecting Monoamine Oxidase (1990) (53)
How do human isochromosomes arise (1982) (53)
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome (2008) (53)
Linkage studies in progressive myoclonus epilepsy (1992) (53)
TGFBR1*6A may contribute to hereditary colorectal cancer. (2005) (52)
Additional gene mutations may refine the 2017 European LeukemiaNet classification in adult patients with de novo acute myeloid leukemia aged <60 years (2020) (52)
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11 (1988) (52)
How do we approach the goal of identifying everybody with Lynch Syndrome? (2013) (52)
Abnormalities of chromosome 13 in myelofibrosis. (2009) (52)
The partial tandem duplication of ALL1 in acute myeloid leukemia with normal cytogenetics or trisomy 11 is restricted to one chromosome. (1997) (52)
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome (2019) (51)
Two XX males in one family and additional observations bearing on the etiology of XX males (1977) (51)
The length of the human Y chromosome. (1967) (51)
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. (1993) (51)
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma (2001) (50)
Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out. (2002) (50)
Differentiation of mammalian somatic cells: DNA and hemoglobin synthesis in fetal mouse yolk sac erythroid cells. (1969) (50)
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland (1999) (50)
Dicentric human X chromosomes. (2009) (49)
Genome-Wide Expression Screening Discloses Long Noncoding RNAs Involved in Thyroid Carcinogenesis. (2016) (49)
Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study (2020) (49)
Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study (2010) (48)
Molecular characterization of chromosome 7 long arm deletions in myeloid disorders. (1987) (48)
Decrease of the major high molecular weight surface glycoprotein of human granulocytes in monosomy-7 associated with defective chemotaxis. (1979) (48)
Uniparental Disomy in Cartilage-Hair Hypoplasia (1997) (48)
Characterization of a New Chronic Lymphocytic Leukemia Cell Line for Mechanistic In Vitro and In Vivo Studies Relevant to Disease (2013) (48)
Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs. (1990) (48)
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns (2012) (48)
Immunodepletion plasma proteomics by tripleTOF 5600 and Orbitrap elite/LTQ-Orbitrap Velos/Q exactive mass spectrometers. (2013) (48)
Identical genetic locus for Baltic and Mediterranean myoclonus (1992) (48)
Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer (2000) (47)
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (1999) (47)
Variants in the ATM‐CHEK2‐BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma (2014) (47)
Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer (1998) (47)
The Use and Misuse of Sex Chromatin Screening for `Gender Identification' of Female Athletes (1986) (47)
Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia (1986) (46)
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis (1995) (46)
Polymerase delta variants in RER colorectal tumours. (1995) (45)
t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic- clinicopathologic association (1985) (45)
The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. (1984) (45)
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. (1991) (45)
Chromosome 7 long-arm deletions in myeloid disorders: terminal DNA sequences are commonly conserved and breakpoints vary. (1989) (45)
Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (1976) (45)
Transplacental passage of foetal blood cells. (2009) (44)
Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. (1996) (44)
Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds (1999) (44)
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer (2020) (44)
Monosomy 7 predisposes to diabetes insipidus in leukaemia and myelodysplastic syndrome (1987) (44)
Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinoma in five kindreds. (1991) (44)
The etiology of XX sex reversal. (1990) (43)
Evidence that the Xg Locus is Inactivated in Structurally Abnormal X Chromosomes (1970) (43)
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (1996) (43)
FETAL LEUKOCYTES IN THE MATERNAL CIRCULATION AFTER DELIVERY: II. Masking of HL-A Antigens (1974) (43)
Sister chromatid exchanges in human bone marrow cells. I. Control subjects and patients with leukaemia. (2009) (43)
Defective neutrophil migration in monosomy-7. (1981) (43)
Gender Verification in Competitive Sports (1993) (42)
Function of neutrophils in preleukaemia. (2009) (42)
Performance of PREMM1,2,6, MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases (2010) (42)
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci (2009) (41)
Low cancer incidence rates in Ohio Amish (2009) (40)
Refined localization of the gene causing X-linked juvenile retinoschisis. (1991) (40)
Refined Localisation of the Genes for Nebulin and Titin on Chromosome 2q Allows the Assignment of Nebulin as a Candidate Gene for Autosomal Recessive Nemaline Myopathy (1997) (40)
Immunoglobulin transcript sequence and somatic hypermutation computation from unselected RNA-seq reads in chronic lymphocytic leukemia (2015) (40)
Origins and prevalence of the American Founder Mutation of MSH2. (2007) (39)
Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type) (2000) (39)
Genetic predisposition to colorectal cancer (2004) (39)
Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. (1979) (38)
Norrie disease gene is distinct from the monoamine oxidase genes. (1989) (38)
Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation. (1985) (38)
The origin of bone marrow fibroblasts. (1973) (38)
Strategies for screening for hereditary non-polyposis colorectal cancer (1999) (37)
The Y-chromosomal and autosomal testis-determining genes. (1987) (37)
Refined Mapping of the Cohen Syndrome Gene by Linkage Disequilibrium (1997) (37)
Genomic structure of the human congenital chloride diarrhea (CLD) gene. (1998) (37)
Oncogenes in human testicular cancer: DNA and RNA studies. (1991) (36)
Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia (2017) (36)
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene (2012) (36)
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome (2001) (35)
HABP2 G534E Variant in Papillary Thyroid Carcinoma (2016) (35)
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. (1996) (35)
Fourth International Workshop on Chromosomes in Leukemia 1982: Clinical significance of chromosomal abnormalities in acute nonlymphoblastic leukemia. (1984) (35)
UNEVEN GEOGRAPHICAL DISTRIBUTION OF 15;17-TRANSLOCATION IN ACUTE PROMYELOCYTIC LEUKÆMIA (1978) (35)
Cystic fibrosis in a low-incidence population: two major mutations in Finland (1994) (35)
Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance (2013) (35)
Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes. (2016) (35)
Linkage relationships and gene order around the locus for X-linked retinoschisis. (1988) (34)
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. (1997) (34)
Isochromosome-X in man. II. (1966) (34)
The frequency of XYY and XXY men among criminal offenders (1981) (34)
Higher frequency of 51--clone in bone marrow mitoses after culture than by a direct method. (2009) (34)
Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7. (1989) (33)
Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes (2007) (33)
The genetics of hereditary common cancers. (1998) (33)
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. (2002) (33)
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A (2020) (33)
Genetic counseling in a navajo hereditary nonpolyposis colorectal cancer kindred (1996) (33)
Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene (1998) (33)
The origin of 45,X males. (1986) (33)
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. (1994) (33)
Identifying Lynch syndrome (2009) (33)
Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer. (2011) (33)
Deletion mapping of the human X chromosome. (2009) (33)
Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage. (1995) (33)
Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y. (1980) (32)
Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. (1982) (32)
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. (1996) (32)
Stimulatory and cytotoxic activity on human adult and fetal lymphocytes by heterologous antihuman fetal lymphocyte sera. (1979) (32)
Methotrexate-induced increase in gap formation in human chromosome band 3p14. (2008) (32)
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence (1987) (31)
MOSAICISM AND SPORADIC HAEMOPHILIA: IMPLICATIONS FOR CARRIER DETERMINATION (1989) (31)
Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21 (1973) (31)
The 5q- chromosome in preleukaemia and acute leukaemia. (2009) (31)
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. (2000) (31)
Progressive myoclonus epilepsy of Unverricht‐Lundborg type (1993) (30)
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. (1995) (30)
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers. (1993) (30)
Characterization and sequencing of the sex determining region Y gene (Sry) in Akodon (Cricetidae) species with sex reversed females (1993) (29)
Quinacrine fluorescence of metaphase chromosomes. Identical patterns in different tissues. (1972) (29)
Identification of Rare Variants Predisposing to Thyroid Cancer. (2019) (29)
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. (1990) (29)
Increased sister chromatid exchange in megaloblastic anaemia-studies on bone marrow cells and lymphocytes. (2009) (29)
Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses (2016) (29)
Isochromosome for the short arm of X, a human 46, XXpi syndrome (1972) (29)
Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation (2000) (29)
MicroRNA-related sequence variations in human cancers (2013) (29)
Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers. (2019) (29)
Microsatellite instability phenotype of tumors: genotyping or immunohistochemistry? The jury is still out. (2002) (29)
Early fusion of two human embryos? (1974) (29)
High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. (1997) (29)
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic (1995) (28)
Role of PTPRJ genotype in papillary thyroid carcinoma risk. (2010) (28)
Genomic sequence matters: A SNP in microRNA-146a can turn anti-apoptotic (2009) (28)
Genetics. The land between Mendelian and multifactorial inheritance. (2001) (28)
t(1;3)(p36;q21) in acute nonlymphocytic leukemia: a new cytogenetic-clinicopathologic association. (1985) (28)
Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters. (2016) (27)
Apparent C trisomy in bone marrow cells. Report of two cases. (2009) (27)
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583. (2012) (27)
PRIMARY HYPOTHYROIDISM, GROWTH HORMONE DEFICIENCY AND CONGENITAL MALFORMATIONS IN A CHILD WITH THE KARYOTYPE 46, XY, del(l)(q25q32) (1976) (27)
Conversion of diploidy to haploidy - Individuals susceptible to multigene disorders may now be spotted more easily. (2000) (27)
Constitutional translocation t(3;6)(p14;p11) in a family with hematologic malignancies. (1987) (27)
The use and misuse of sex chromatin screening for 'gender identification' of female athletes. (1986) (27)
NF1 mutations are recurrent in adult acute myeloid leukemia and confer poor outcome (2018) (27)
Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. (1997) (27)
Poor Survival and Differential Impact of Genetic Features of Black Patients with Acute Myeloid Leukemia. (2020) (27)
Repetitious DNA in mammalian chromosomes. (2009) (26)
X‐linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85 (1987) (26)
Polyploidy of the bone marrow. (2009) (26)
Cytogenetic studies of 21 patients with acute lymphoblastic leukemia in relapse. (1989) (26)
Assessing thyroid cancer risk using polygenic risk scores (2020) (26)
Amnionless (AMN) mutations in Imerslund–Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS (2008) (26)
Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. (1995) (26)
Polymorphisms in a pseudogene highly homologous to PMS2 (2000) (26)
Molecular characterization of a Y;15 translocation segregating in a family (1988) (25)
Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia (2012) (25)
Differences in DNA composition along mammalian metaphase chromosomes (1973) (25)
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative (2021) (25)
The fluorescence of quinacrine mustard with nucleic acids. (1973) (25)
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. (1993) (25)
Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia (2013) (24)
Permanent tooth sizes in 46, XX‐males (1979) (24)
NRAS isoforms differentially affect downstream pathways, cell growth, and cell transformation (2014) (24)
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (1999) (24)
Monosomy-7 and the colton blood-groups (1975) (24)
Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects. (2020) (24)
How do human isochromosomes arise? (1982) (23)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. (1986) (23)
Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients. (2009) (23)
Constrictions in normal human chromosomes. (1961) (23)
Human testicular cancer. Changes in autosomal dosage. (1990) (23)
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia (2008) (22)
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. (1998) (22)
Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria. (2000) (22)
Intronic miR-3151 Within BAALC Drives Leukemogenesis by Deregulating the TP53 Pathway (2014) (21)
Stimulation of Human Fetal Lymphocytes by Lipopolysaccharide B in Culture (1977) (21)
Genetic architectures of proximal and distal colorectal cancer are partly distinct (2020) (21)
A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases. (1978) (21)
The Role of NRG1 in the Predisposition to Papillary Thyroid Carcinoma (2018) (21)
Study of p.N247S KERA mutation in a British family with cornea plana. (2007) (21)
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. (2021) (21)
Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality. (2017) (21)
Altered dosage of the sex chromosomes in human testicular cancer: A molecular genetic study (1991) (21)
Chromosomes in leukemia (1977) (20)
In situ localization and characterization of different classes of chromosomal DNA: acridine orange and quinacrine mustard fluorescence (2004) (20)
Microdeletions in patients with X‐linked muscular dystrophy: molecular‐clinical correlations (1988) (20)
A truncating germline mutation of TINF2 in individuals with thyroid cancer or melanoma results in longer telomeres. (2020) (20)
Cytogenetics of recurrent abortion or unsuccessful pregnancy. (1973) (20)
X-Linked Juvenile Retinoschisis (1994) (20)
Isochromosome-X in man. I. (1966) (20)
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome (2009) (20)
Standardization in human cytogenetics (1975) (19)
Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. (1993) (19)
Deletion mapping of stature determinants on the long arm of the Y chromosome (1995) (19)
A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. (2000) (19)
The Incidence of Lynch Syndrome (2005) (19)
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. (1988) (19)
Mapping of the regulatory subunits RIβ and RIIβ of cAMP-Dependent protein kinase genes on human chromosome 7 (1992) (19)
Meiosis and spermatogenesis in two postpuberal males with Down's syndrome: 47, XY, G+ (1971) (19)
A Founder Mutation of the MSH 2 Gene and Hereditary Nonpolyposis Colorectal Cancer in the United States (2004) (19)
Allele-specific expression of TGFBR1 in colon cancer patients (2010) (19)
Telomere length and telomerase reverse transcriptase gene copy number in patients with papillary thyroid carcinoma. (2011) (19)
An American founder mutation in MLH1 (2012) (18)
Recurrent and founder mutations in the PMS2 gene (2013) (18)
HAEMOPHILIA A: TWO RECOMBINATIONS DETECTED WITH PROBE Stl4 (1986) (18)
A linkage map spanning the locus for diastrophic dysplasia (DTD). (1991) (18)
General report on the first international workshop on chromosomes in leukemia (1978) (18)
Quaternary Bases from Hunteria eburnea Pichon (1974) (18)
The genetics of cornea plana congenita. (1996) (18)
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. (1995) (18)
Chromosomal abnormalities in acute promyelocytic leukaemia. (2009) (18)
A large pericentric inversion of human chromosome 8. (1976) (17)
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families (2004) (17)
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. (1996) (17)
MicroRNA-3151 inactivates TP53 in BRAF-mutated human malignancies (2015) (17)
The sex-determining zinc finger sequences in XY females of Akodon azarae (Rodentia, Cricetidae). (1989) (17)
Allelic variation in gene expression in thyroid tissue. (2005) (17)
Hypermethylation of the MLH1 Promoter With Concomitant Absence of Transcript and Protein Occurs in Small Patches of Crypt Cells in Unaffected Mucosa From Sporadic Colorectal Carcinoma (2006) (17)
Human gene mapping 8 : Helsinki Conference (1985) : Eighth International Workshop on Human Gene Mapping : at the University of Helsinki, Finland, August 4-10, 1985 (1985) (16)
Tetanus in a renal transplant recipient exhibiting the presence of circulating antitetanus antibodies determined by ELISA. (2002) (16)
The proportion of mitoses in different cell lineages changes during short-term culture of normal human bone marrow. (1986) (16)
Cystic fibrosis in Finland: a molecular and genealogical study (1989) (16)
American founder mutation for Lynch syndrome (2006) (16)
Immunology and the Lynch syndrome. (2008) (16)
The Olympic Games and Athletic Sex Assignment. (2016) (15)
CONTROL MECHANISMS OF THE CONVERSION FROM SYNTHESIS OF EMBRYONIC TO ADULT HEMOGLOBIN * (1969) (15)
Concomitant presentation of two chronic leukemias: Evidence for independent clonal evolution (1980) (15)
Genetic homogeneity of cartilage-hair hypoplasia (1995) (15)
Identification of NRAS isoform 2 overexpression as a mechanism facilitating BRAF inhibitor resistance in malignant melanoma (2017) (15)
Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology. (1990) (15)
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients. (2020) (14)
XY/XO mosaicism. (1962) (14)
Assessment by Southern blot analysis of UV-induced damage and repair in human immunoglobulin genes. (1990) (14)
Monocytic involvement by monosomy 7 preceded acute myelomonocytic leukemia in a patient with myelodysplastic syndrome. (1988) (14)
Molecular studies of the sex chromosomes in human testicular cancer: Pronounced changes in X and Y chromosome dosage in some tumors (1989) (14)
Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2 (2016) (14)
Bone marrow cytogenetics: the lineage of dividing cells changes during the first few hours in culture. (1987) (14)
Chromosome studies in acute lymphoblastic leukaemia (ALL). (2009) (14)
Damage and repair induced by bleomycin in the domain of human amplified MYC oncogenes. (1990) (14)
Reappraisal of a 46,X,i(Xp) karyotype as 46,X,del(Xg). (2009) (14)
t(11;19)(q23;p11) in a child with acute T-cell leukemia. (1985) (14)
Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene (1999) (14)
H-Y antigen in 46,XY gonadal dysgenesis (2004) (14)
Human bone marrow cytogenetics: growth factors stimulate metaphases for specific lineages. (1989) (14)
Identification of a Recurrent LMO7-BRAF Fusion in Papillary Thyroid Carcinoma. (2018) (14)
Chromosomal mosaicism. X. Chromosome anomaly and sex chromatin discrepancy in a case of gonadal dysgenesis. (1962) (14)
Primary Cell Culture Systems for Human Thyroid Studies. (2016) (14)
Esmolol in the treatment of severe arrhythmia after acute trichloroethylene poisoning (2000) (13)
Demethylation of two specific DNA sequences in expressed human immunoglobulin light kappa constant genes (1988) (13)
Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA (2018) (13)
Determination of human paternity from the length of the Y chromosome. (1967) (13)
Translocation (2;11) (p21;q23) in acute non-lymphocytic leukaemia: a non-random association. (2009) (13)
Absence of brightly fluorescent Y material in XX men. (1971) (13)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Mapping of the gene for glutathione reductase on chromosome 8. (1976) (13)
Linked polymorphic DNA markers in the prediction of X‐linked muscular dystrophy (1987) (13)
Two pericentric inversions of human chromosome 11. (1977) (12)
Chromosome 12 in human testicular cancer: dosage changes and their parental origin. (1992) (12)
How do we approach the goal of identifying everybody with Lynch Syndrome? (2013) (12)
Genomic characterization of human DSPG3. (1999) (12)
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation (2004) (12)
Gene expression signature predicts relapse in adult patients with cytogenetically normal acute myeloid leukemia. (2021) (12)
GENDER VERIFICATION OF FEMALE ATHLETES (1987) (12)
Thyroid carcinomas that occur in familial adenomatous polyposis patients recurrently harbor somatic variants in APC, BRAF, and KTM2D. (2020) (11)
Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia. (2016) (11)
The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma (2018) (11)
Differential gene expression in patients genetically predisposed to pancreatic cancer. (2006) (11)
Normal Mitotic Activity and Karyotype of Leucocytes from Pernicious Anæmia Patients cultured in Vitamin B12-deficient Medium (1963) (11)
Immunoglobulin kappa and lambda light chain dual genotype rearrangement in a patient with kappa-secreting B-CLL. (1988) (11)
Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region (1991) (11)
Microsatellite instability. (2003) (11)
Autoradiographic re-appraisal of an XXXxY male as a probable XXXXY with a 4-11 translocation. (1967) (11)
An (X;3) translocation, balanced, 46 chromosomes. Repository identification No. GM-194. (1975) (11)
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study. (2021) (10)
No evidence for microsatellite instability in acute myeloid leukemia (2017) (10)
Abstracts of meeting presentations (Part 11 of 11) (1984) (10)
Three dinucleotide repeat polymorphisms proximal to the D2S123 locus. (1994) (10)
Genetic and molecular studies on 46,XX and 45,X males. (1986) (10)
FACTOR STIMULATING CELL DIVISION IN CULTURED LEUCOCYTES (1961) (10)
Evolution of zinc finger-Y and zinc finger-X genes in oryzomyne-akodontine rodents (Cricetidae) (2004) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Meiosis and spermatogenesis in G-Trisomic males (2004) (10)
Baalc, a marker of mesoderm and muscle. (2005) (10)
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities (2011) (10)
Long‐range PCR facilitates the identification of PMS2‐specific mutations (2006) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
Inherited Human Diseases: Victories, Challenges, Disappointments * * Previously presented at the ann (2003) (9)
The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12–p13 and description of a DNA polymorphism (1989) (9)
A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201. (1975) (9)
Chromosome rearrangements in acquired malignant diseases. (1982) (9)
Is there a common psychopathology of XYY boys? A clinical report on three cases of XYY and one of XY-XYY. (1972) (9)
A new heritable fragile site on human chromosome 3. (2008) (9)
An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction. (1987) (8)
Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis. (1987) (8)
The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online. (1998) (8)
Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome. (1978) (8)
Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase (2005) (8)
Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia (2019) (8)
Radioimmunoassay for H-Y antigen. (1981) (8)
[Fetal leukocytes in the maternal circulation]. (1976) (8)
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy]. (1988) (8)
UV damage and repair in the domain of the human c-myc oncogene. (1991) (7)
Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome (2019) (7)
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results (1990) (7)
HABP2 Mutation and Nonmedullary Thyroid Cancer. (2015) (7)
Human genes: Mapping hereditary disorders (1985) (7)
Hereditary intrinsic factor deficiency in chaldeans. (2013) (7)
Extramedullary pleural blast crisis during otherwise chronic phase in chronic granulocytic leukaemia. (1980) (7)
Evaluation of Allele-Specific Somatic Changes of Genome-Wide Association Study Susceptibility Alleles in Human Colorectal Cancers (2012) (7)
High resolution of a small pericentric inversion of chromosome 11. (1980) (7)
PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus (1994) (7)
Hemophilia A: genetic prediction and linkage studies in all available families in Finland (1991) (7)
Aetiological Studies in Males with the Karyotype 46,XX1 (1984) (7)
Abstracts of meeting presentations (Part 2 of 11) (1982) (6)
The 1985 human gene map and human gene mapping in 1985. (1985) (6)
Multiethnic genome‐wide association study of differentiated thyroid cancer in the EPITHYR consortium (2020) (6)
Haplotype and multipoint linkage analysis in Finnish choroideremia families (1989) (6)
Abstracts of meeting presentations (Part 5 of 11) (1979) (6)
Heteromorphic X Chromosomes in 46,XX males? (1979) (6)
The methylation pattern of normal and truncated amplified human c-myc oncogenes. (1989) (6)
Discovery of common and rare genetic risk variants for colorectal cancer (2018) (6)
[A rare lethal bone dysplasia with recessive autosomic transmission]. (1972) (6)
Olympic row over sex testing (1992) (6)
Molecular basis of chromosome banding (1975) (6)
Interaction of quinacrine mustard with calf thymus histone fractions. (1973) (6)
Structural characterization of NRAS isoform 5 (2016) (6)
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands. (1987) (6)
Autoradiographically identified karyotype 49,XXXXY, t(4; 11) (q35; q23) confirmed by banding. (2009) (6)
Autoradiographic studies of chromosomal DNA synthesis in two males with female karyotypes. (2009) (5)
2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments. (2003) (5)
Penetrance of a rare familial mutation predisposing to papillary thyroid cancer (2018) (5)
HABP 2 G 534 E Variant in Papillary Thyroid Carcinoma (2016) (5)
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1). (1985) (5)
Two further males with female karyotypes (2004) (5)
Segregating Reciprocal ( 4 ; 21 ) ( q 21 ; q 21 ) Translocation with Proposita Trisomic for Parts of 4 q and 21 Summary (5)
NOR activity in two families with balanced D;D translocations and numerous consecutive miscarriages. (2009) (5)
Clinical implications of GWAS variants associated with differentiated thyroid cancer. (2019) (5)
Abstracts of meeting presentations (Part 8 of 11) (1984) (5)
[Linkage and linkage disequilibrium in the Finnish disease heritage]. (1994) (5)
Abstracts of meeting presentations (Part 10 of 11) (1984) (5)
Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal aysnapsis (1989) (5)
Abstracts of meeting presentations (Part 2 of 5) (1979) (5)
Critical chromosome rearrangement in acute promyelocytic leukemia. (1984) (5)
Genetic and molecular studies on 46,XX and 45,X males. (1986) (5)
Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7. (1992) (5)
Hemoglobin synthesis and differentiation of erythroid cells. (1968) (5)
ISOCHROMOSOME-X IN MAN. PART II (2009) (4)
A rare reciprocal translocation (12;21) segregating for nine generations (1993) (4)
CYTOGENETIC STUDY OF SEVENTY‐THREE PATIENTS WITH DOWN'S SYNDROME (2008) (4)
A Simple Technique for Concentrating Granulocytes for the Determination of Chromatin Sex (1961) (4)
Uniparental disomy as an explanation of presumptive low penetrance (1994) (4)
289 Sex and Gender in Sport: Fallacy of the “Level Playing Field” (2010) (4)
Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate (1990) (4)
Characterization of a (Y;4) translocation by DNA hybridization (1988) (4)
Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families (1990) (4)
Abstracts of meeting presentations (Part 3 of 11) (1979) (4)
Chromosomal mosaicism. X. Chromosome anomaly and sex chromatin discrepancy in a case of gonadal dysgenesis. (1962) (4)
The Colton blood groups in monosomy 7 of the bone marrow. (1976) (4)
[Helicopter Science]. (1996) (4)
Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci. (2009) (4)
Mutation Frequencies in Patients With Early-Onset Colorectal Cancer-Reply. (2017) (4)
The pattern of methylation in rearranged and germ-line human immunoglobulin constant mu genes. (1987) (4)
Probable monosomy-21 and partial trisomy. (1973) (4)
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. (2005) (4)
Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry. (2019) (4)
Neuroblastoma RAS viral oncogene homolog mRNA is differentially spliced to give five distinct isoforms: implications for melanoma therapy. (2019) (4)
Transformation in chronic granulocytic leukaemia. Different blast cell clones in different anatomical sites. (1979) (4)
Erratum to: Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study (2010) (4)
Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report. (1991) (4)
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells (2020) (4)
Erratum: Genetic testing for cancer predisposition (Annual Review of Medicine (2001) 52 (371-400)) (2002) (4)
miR-3151 Interplays With its Host Gene BAALC and Independently Impacts on Outcome of Older Patients With Cytogenetically Normal Acute Myeloid Leukemia by Direct Deregulation of TP53 (2014) (4)
The Use and Misuse of Sex Chromatin Screening for ‘Gender Identification’ of Female Athletes (1987) (3)
[A breakthrough in solving the genetic background of colon cancer]. (1993) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
The complicated issue of human sex determination. (1988) (3)
Comprehensive population-wide detection of Lynch syndrome in Iceland. (2016) (3)
Hunteracine: the crystal structure of a quaternary alkaloid from Hunteria eburnea Pichon (1970) (3)
Identification of a deletion in the mismatch repair gene, MSH2, using mouse–human cell hybrids monosomal for chromosome 2 (2003) (3)
Base R, the X-ray crystal structure of a novel lycopodium alkaloid (1974) (3)
A polymorphic DNA sequence from the terminal part of chromosome 12q [D12S37]. (1990) (3)
Truncated erythropoietin receptor causesdominantly inherited benign humanerythrocytosis (1993) (3)
Section 2: Chromosome disease (1981) (3)
Molecular basis of chromosome banding. III. Fluorescence of acridines with nucleic acid polymers. (1977) (3)
[Marden-Walker syndrome. New case and discussion about its role in arthrogryposes]. (1988) (3)
A (4;11) translocation, balanced, 49 XXXXY karyotype. Repository identification no. GM-157. (1975) (3)
The control of differentiation in erythroid cells. (1971) (3)
"Mixed" gonadal dysgenesis, a case with male phenotype and 45,X-46,XY mosaicism. (1970) (3)
Mitotic and meiotic chromosomes in a family with repeated miscarriages and two children with trisomy-G Down's syndrome. (2008) (3)
Steroid sulphatase levels in XX males, including observations on two affected cousins (1981) (3)
Fine mapping of 14q13 reveals novel variants associated with different histological subtypes of papillary thyroid carcinoma (2018) (3)
Transformation in Chronic Granulocytic Leukaemia (1979) (3)
Dicentric Y chromosome arising via tandem translocation. (1980) (3)
Gender Verification and the Next Olympic Games-Reply (1993) (3)
Familial pericentric inversion inv(8)(p23q11). (1994) (3)
Unraveling the genetic predisposition to differentiated thyroid carcinoma. (2013) (3)
Protein A radio-assay of H-Y antigen on human leukocytes using mouse and rat antisera and monoclonal antibodies (2004) (2)
Response to Li and Hopper. (2021) (2)
Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene. (1999) (2)
Is the disruption of an N‐myristoyltransferase (NMT2) associated with hypoplastic testes? (2007) (2)
CELL SURFACE MARKERS IN CORD BLOOD LEUCOCYTES AFTER STIMULATION WITH LIPOPOLYSACCHARIDE B (1978) (2)
A (4;11) translocation, balanced, XXXXp-Y, 49 chromosomes. Repository identification No. GM-157. (1975) (2)
DXS26 (HU16) is located in Xq21.1 (1990) (2)
ELONGATION AS THE POSSIBLE MECHANISM OF ORIGIN OF LARGE HUMAN Y CHROMOSOMES (2009) (2)
Characterizing the function of EPB41L4A in the predisposition to papillary thyroid carcinoma (2020) (2)
Trisomy 12 in hematologic disorders [letter] (1980) (2)
13. Klinefelter's Syndrome with XXYY Sex Chromosomes (1965) (2)
The use of cytogenetic abnormalities in bone marrow cells for mapping by gene dosage. (1976) (2)
EVIDENCE FOR THE EXISTENCE OF HERITABLE LARGE Y CHROMOSOMES UNASSOCIATED WITH DEVELOPMENTAL DISORDER (2009) (2)
Title : A novel mutation in the sulfate transporter gene SLC 26 A 2 ( DTDST ) specific to the Finnish population causes de la Chapelle dysplasia (2)
A polymorphic DNA sequence from the terminal part of chromosome 21q [D21S154]. (1990) (2)
Cell labeling and separation with polyglutaraldehyde microspheres. (1980) (2)
The Third Year of the EJHG (1995) (2)
Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping. (1991) (2)
Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma (2021) (2)
Familial pericentric inversion inv ( 8 ) ( p 23 ql ) (2)
Chromosome abnormalities in Burkitt lymphoma and Burkitt-type acute lymphoblastic leukemia (1985) (2)
Choroideremia: linkage analysis with physically mapped close DNA-markers (1991) (2)
Genetic mapping of the erythropoietin receptor gene (1993) (2)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis (2020) (2)
Linkage data on chromosome 11. (1978) (2)
SEX CHROMOSOME ABNORMALITIES AMONG THE MENTALLY DEFECTIVE IN FINLAND. (2008) (2)
[Inherited primary amenorrhea. The first gynecological disease of Finnish heritage]. (1996) (2)
A European Research Conference on the Inherited Disorders and Their Genes in Different European Populations (1994) (2)
Hamilton Fairley Lecture Is Hereditary Non-Polyposls Colorectal Cancer an Example of a Common Cancer that Is Truly Preventable Thanks to Genetic Testing? (1996) (2)
Trisomy 12 in hematologic disorders. (1980) (2)
Unraveling the Genetic Predisposition to Differentiated Thyroid Carcinoma (2013) (2)
S(+)Magnoflorine Bromide: Isolated From Croton turumiquirensis (1981) (2)
Response to: getting rid of the PMS2 pseudogenes: mission impossible? (2007) (2)
Overexpression of the ERG Gene Is an Adverse Prognostic Factor in Acute Myeloid Leukemia (AML) with Normal Cytogenetics (NC): A Cancer and Leukemia Group B Study (CALGB). (2005) (2)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma (2020) (1)
Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand? (2019) (1)
Red cell glutathione reductase activity in patients with bone-marrow trisomy 8. (1976) (1)
[Localization of progressive myoclonus epilepsy gene opens new horizons for epilepsy research]. (1992) (1)
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate. (1990) (1)
Testing tumors for microsatellite instability (1999) (1)
[Stop the sex chromatin test in sports medicine. A bad selective method causing tragedy]. (1988) (1)
The etiology of maleness in XX men. (1981) (1)
[Defective gene causing diastrophic dysplasia has been localized]. (1991) (1)
[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics]. (1985) (1)
Refined physical and partial transcript map of the Usher syndrome type III region (1998) (1)
Abstracts of meeting presentations (Part 9 of 11) (1984) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
Chromosome anomalies in hematologic malignancies. (1986) (1)
STIMULATION OF HUMAN FETAL LYMPHOCYTES BY LIPOPOLYSACCHARIDE B IN CULTURE STUDIES ON CELLS CIRCULATING IN MATERNAL BLOOD (1978) (1)
The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school (2017) (1)
GENDER VERIFICATION AND THE NEXT OLYMPIC GAMES. AUTHOR'S REPLIES (1993) (1)
Neuronal ceroid lipofuscinosis: A novel gene (CLN8) is mutated in human progressive epilepsy with mental retardation and the motor neuron degeneration mouse model. (1999) (1)
Polymorphisms in a Pseudogene Highly Homologous (2000) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Subject Index Vol. 52, 1989 (1989) (1)
Colon Cancer Germline Genetics: The Unbelievable Year 1993 and Thereafter. (2016) (1)
Molecular basis of chromosome banding (1975) (1)
[Prevalence of anti-HIV antibodies in immunoglobulins recipients]. (1987) (1)
Colorectal Cancer ) among Endometrial Cancer Patients Screening for Lynch Syndrome ( Hereditary Nonpolyposis (2006) (1)
Abstracts of meeting presentations (Part 6 of 11) (1984) (1)
The Binding of Fluorochromes and Proteins to Cellulose-immobilized Nucleic Acids. (1976) (1)
The Second Year of the European Journal of Human Genetics (1994) (1)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 15, 1975 (1975) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Reply to L.H. Jensen et al and S. Jahn et al (2009) (1)
Trisomy 8 in the bone marrow associated with high glutathione reductase activity (1976) (1)
The American founder mutation for Lynch syndrome: Prevalence and cancer control implications (2005) (1)
myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study cytogenetically normal patients younger than 60 years with acute markers, poor outcome, and a distinct gene-expression signature in High BAALC expression associates with other molecular prognostic (2013) (1)
A Founder Mutation of theMSH2 Gene and Hereditary Nonpolyposis Colorectal Cancer in the United States (2004) (1)
Inducible fragile site on chromosome 3 (2004) (1)
Abstract 5235: Identification of microRNA-3662as a novel tumor suppressor miR (2014) (1)
Chromosomedamageafter intra-articular injections ofradioactive yttrium (1972) (1)
Mapping hereditary disorders. (1985) (1)
Delivery of genetic services: transition from research to routine. (1982) (0)
Contents, Vol. 52, 1989 (1989) (0)
Detection of B-Lymphocytes in Peripheral Blood and other Tissues by Immunohistochemical Methods Using Monoclonal, Ia-Like Antigen Specific, Antibodies (1984) (0)
Genes on Chromosome 7 (2008) (0)
A practical application of sample sequencing strategy and the GeneHunting software tools in positional cloning of progressive epilepsy with mental retardation (EPMR) and laryngeal carcinoma cancer region at chromosome 8p23 (1999) (0)
[Diagnosis of hemophilia A and B by recombinant DNA methods]. (1987) (0)
Update on the genetics of autosomal recessive nemaline myopathy (1998) (0)
Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer (2021) (0)
Contents, Vol. 50, 1989 (1989) (0)
Abstracts of meeting presentations (Part 7 of 11) (1984) (0)
[New methods in gene mapping]. (1988) (0)
RFLP studies in families with Duchenne muscular dystrophy (1986) (0)
Creutzfeldt-Jakob disease. (1962) (0)
Correction: Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance (2013) (0)
The Colton blood groups in monosomy 7 of the bone marrow. (1976) (0)
RAMSAY HUNT SYNDROME AND UNVERRICHT LUNDBORG SYNDROME: GENETIC IDENTITY AND NEUROPHYSIOLOGICAL FEATURES (1993) (0)
Workshop on cancer cytogenetics. (1982) (0)
[Prenatal diagnosis]. (1972) (0)
Subject Index Vol. 20, 1978 (1978) (0)
MicroRNA-related sequence variations in human cancers (2013) (0)
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family (2021) (0)
Genetic testing may prevent hereditary nonpolyposis colorectal cancer. Hamilton Fairley Lecture, held at the ESMO Congress, Vienna, November 2-5, 1996. (1996) (0)
Chromosomal mechanisms in neoplasia. (1985) (0)
Lynch syndrome deletions in unexpected places (2009) (0)
Mutations in the nebulin gene as recessive nemaline myopathy (2016) (0)
Human genes: Mapping hereditary disorders (1985) (0)
Abstract 2998: Identification of AURKA- and PTPRJ-interacting human colorectal cancer susceptibility alleles. (2013) (0)
Dedication: Dr. Pekka Vuopio 1931–1982 (1984) (0)
Danish-type gelsolin-related amyloidosis: Tyr-187 mutation is associated with accelerated amyloid fibril formation and abnormal fragmentation of mutant gelsolin (1999) (0)
The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma (2018) (0)
Subject Index Vol. 32, 1982 (1982) (0)
Abstract 1307: Heritable polymorphism predisposes to high expression ofBAALCin cytogenetically normal acute myeloid leukemia (CN-AML) (2012) (0)
Subject Index Vol. 50, 1989 (1989) (0)
Contents, Vol. 15, 1975 (1975) (0)
[Current indications for chromosome study in congenital defects]. (1981) (0)
Interaction of Quinacrine Mustard with Calf Thymus Histone Fractions By RITVA-KAJSA SELANDER and ALBERT DE LA CHAPELLE (2005) (0)
Micro RNA-3662 Located within the Major Hematopoietic Differentiation Quantitative Trait Locus on Chromosome 6q23 Acts As a Tumor Suppressor By Direct Targeting of the NF-ĸB Transcriptional Activation Pathway (2014) (0)
Subject Index, Vol. 62, 1979 (1979) (0)
Paternal isodisomy for chromosome 7 and normal growth and development in a patient with congenital chloride diarrhea (1994) (0)
[What's new in the genetics of familial colon cancer?]. (1991) (0)
[Origin of chromosomal aberrations in male fertility disorders]. (1979) (0)
Colon Cancer Germline Genetics: The Unbelievable Year 1993 and Thereafter (2016) (0)
Hereditary nonpolyposls colorectal cancer is preventable (1997) (0)
M1938 Does Expression of the Gastric Mucin MUC6 Help Identify Advanced Serrated Colorectal Polyps (2009) (0)
[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome]. (1998) (0)
Catalog of mapped human gene markers. (1980) (0)
From Genotype to Phenotype, S.E. Humphries, S. Malcolm (Eds.). BIOS Scientific Publishers Ltd (1994), 310, £55.00/$99.00 hbk ISBN 1 872748 62 7 (1995) (0)
A polymorphic DNA sequence from the terminal part of chromosome 20q [D20S26]. (1990) (0)
Twopericentric inversions ofhumanchromosome 11 (1977) (0)
Abstract 4790: Overexpression ofmiR-3151leads to direct deregulation of the TP53 pathway and is associated withBRAFmutations in malignant melanoma (2014) (0)
The Mutational Patterns Associated with Cytogenetic Subsets of De Novo Acute Myeloid Leukemia (AML): A Study of 1603 Adult Patients (Pts) (2016) (0)
[Heritable X-chromosome disease]. (1988) (0)
Neurofibromin 1 gene Mutations Are Recurrent Events in Adult Patients with Acute Myeloid Leukemia (AML), Associate with Poor Outcome and Refine the Adverse European Leukemianet (ELN) Risk Category (2017) (0)
Thegeneforcongenital chloride diarrhea mapsclose tobutis distinct fromthegeneforcystic fibrosis transmembrane conductance regulator (1993) (0)
Advances in Brief HMSH 2 Mutations in Hereditary Nonpolyposis Colorectal Cancer Kindreds 1 (2006) (0)
MUTATION SPECTRUM OF DRA IN CONGENITAL CHLORIDE DIARRHEA (1997) (0)
Risk of Colorectal Cancer Confers an Increased TGFBR 1 Germline Allele-Specific Expression of (2014) (0)
[Chromosome and gene abnormalities in malignant blood diseases]. (1989) (0)
Penetrance of a rare familial mutation predisposing to papillary thyroid cancer (2017) (0)
The Crystal Structure of Succinylcholine Chloride Dihydrate. (1976) (0)
PIK3CA mutations in colorectal and endometrial cancer with double somatic mismatch repair mutations compared to Lynch syndrome. (2015) (0)
The Y-chromosomal and autosomal testis-determining genes (2005) (0)
Abstract 301: Identification of NRAS isoform 2 overexpression as a novel mechanism facilitating BRAF inhibitor resistance in malignant melanoma (MM) (2016) (0)
Subject index Vol. 40, 1985 (1985) (0)
Genes predisposing to colon cancer (1999) (0)
Syndrome of the month Cartilage-hair hypoplasia (0)
Invited Editorial: The Complicated Issue of Human Sex Determination (2006) (0)
A polymorphic DNA sequence from the terminal part of chromosome 20q [D20S25]. (1990) (0)
[New genetics in medicine]. (1990) (0)
The use of cytogenetic abnormalities in bone marrow cells for mapping by gene dosage. (2009) (0)
Cancer Risks for PMS2-Associated Lynch Syndrome (vol 29, pg 2961, 2018) (2019) (0)
Subject Index Vol. 25, 1979 (1979) (0)
[Genetics in medical studies. The situation in Finland]. (1971) (0)
Characterization of chromosome 7 long arm deletions by DNA probes in myelodysplastic syndrome (1987) (0)
Abstract 4731: Resequencing of the MYC-335 enhancer in the colorectal cancer associated 8q24 region (2010) (0)
CCND1 and CCND2 Mutations Are Frequent in Adults with Core-Binding Factor Acute Myeloid Leukemia (CBF-AML) with t(8;21)(q22;q22) (2016) (0)
MiR-3151, a Novel MicroRNA Embedded in BAALC, Is Only Weakly Co-Expressed with Its Host Gene and Independently Impacts on the Clinical Outcome of Older Patients (Pts) with De Novo Cytogenetically Normal Acute Myeloid Leukemia (CN-AML) (2011) (0)
Lynch syndrome deletions in unexpected places (2009) (0)
Contents, Vol. 32, 1982 (1982) (0)
Correction for vol. 36, p. 819 (2000) (0)
Abstracts of meeting presentations (Part 4 of 11) (1979) (0)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 14, 1975 (1975) (0)
Meta-Analysis of Genome-Wide Association Studies of Acute Myeloid Leukemia (AML) Patients Identifies Variants Associated with Risk of 11q23/KMT2A-Translocated and Core-Binding Factor (CBF) AML and Suggests a Role for Transcription Elongation in Leukemogenesis (2020) (0)
Relocalisation of the nebulin gene to a more proximal region on chromosome 2q using radiation hybrids (1996) (0)
Families Evaluable by Linkage (2007) (0)
A simple technique for concentrating granulocytes for the determination of chromatin sex. (1961) (0)
Reviewers Acknowledgement (2001) (0)
Population-Based M olecular D etection o f H ereditary Nonpolyposis C olorectal C ancer (2000) (0)
[Early diagnosis and screening of colonic adenomatous polyposis]. (1991) (0)
Molecular control of differentiation: DNA, RNA and haemoglobin synthesis in the erythroid cells of foetal mice. (1972) (0)
The genetic basis of testis determination in man (1987) (0)
A Novel CACNA1F Gene Mutation in the Original Family With Åland Island Eye Disease (2006) (0)
Contents, Vol. 62, 1979 (1979) (0)
The functional cobalamin (vitamin B 12 )-intrinsic factor receptor is a novel complex of cubilin and amnionless OF AND (2003) (0)
Theinheritance offragile sites: apparentabsence offra(2)(q13) intheparentsofthreeunrelated probands (1987) (0)
The Genetic Variability of Thalassaemia. A (0)
TheParental Origin ofX Chromosomes inXX Males Determined UsingRestriction Fragment Length Polymorphisms (1984) (0)
Subject Index Vol. 19, 1977 (1977) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Peter John Langford Cook, BA, MB Cantab., PhD Lond. (1982) (0)
Risk of cancer in MSH6 mutation carriers: an international collaboration (2008) (0)
Abstracts of meeting presentations (Part 1 of 11) (1982) (0)
Subject Index Vol. 14, 1975 (1975) (0)
Genetic testing may prevent hereditary nonpolyposis colorectal cancer Hamilton Fairley Lecture, held at the ESMO Congress, Vienna, November 2–5, 1996 (1996) (0)
Mutations in Genes Associated with Familial Predisposition to Myeloid Neoplasms: Their Frequency and Associations with Pretreatment Characteristics in Adult Patients (Pts) with Presumably Sporadic De Novo Acute Myeloid Leukemia (AML) (2018) (0)
Abstract 28: The Netrin-1 receptor UNC5C is a tumor suppressor in colorectal malignancies (2012) (0)
Interstitial deletion in the long arm of chromosome 1 in a subject with congenital abnormalities. Repository identification No. GM-214. (1979) (0)
Mutation Patterns Identify Adult Patients with De Novo Acute Myeloid Leukemia (AML) Aged 60 Years or Older Who Respond Favorably to Standard Chemotherapy: an Analysis of Alliance Studies (2017) (0)
[Do men need follicle-stimulating hormone?]. (1997) (0)
Candidate genes for progressive myoclonus epilepsy on 21Q22.3 (1996) (0)
Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y. (1979) (0)
Erratum: Phenotypic diversity in patients with multiple serrated polyps: A genetics clinic study (International Journal of Colorectal Disease (2010) 25 (1513-1515)) (2010) (0)
Deletions in HSP110 T17 and patient prognosis in stage III microsatellite instable (MSI) colon cancers: Findings from CALGB 89803 and NCCTG N0147. (2016) (0)
Contents, Vol. 37, 1984 (1984) (0)
Abstract 1117: Dissection of the major hematopoietic quantitative trait locus in chromosome 6q23.3 identifies miR-3662 as a player in hematopoiesis and AML (2016) (0)
Abstract 3093: 3D structural report of NRAS isoform 5 (2016) (0)
Chromosome rearrangements in acquired malignant diseases. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. (1982) (0)
[Chromosome aberrations and their clinical implications]. (1968) (0)
A polymorphic DNA sequence from the terminal part of chromosome 5p [D5S109]. (1990) (0)
Specificity of RNA-DNA hybrids in differentiating erythroid cells. (1972) (0)
Linkage studies in choroideremia (1986) (0)
Subject Index Vol. 15, 1975 (1975) (0)
Listing of forthcoming and published papers available on line (1989) (0)
[Fluorescence microscopy--a simple test for XYY]. (1971) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Gene expression profiling reveals fundamental biological differences in AML with trisomy 8 and normal cytogenetics (2001) (0)
[Is it possible to eradicate inherited polyposis coli in colorectal cancer by using genetic diagnosis]. (1996) (0)
Proceedings of the Sixth International Chromosome Conference held in Helsinki, Finland, August 29-31, 1977 (1977) (0)
Allele-speciﬁc expression of TGFBR1 in colon cancer patients (2010) (0)
Abstract 4156: Multiple rare germline variants in a thyroid cancer family (2019) (0)
[Congenital chloride diarrhea gene error in the anion transporter protein]. (1999) (0)
[Sex determination and its anomalies]. (1988) (0)
[Medical genetics in practice and teaching]. (1981) (0)
Sensitive and efficient detection of MSH2 and MLH1 mutations in sporadic colon carcinomas by two-dimensional DNA electrophoresis (1996) (0)
Sex Chromatin Screening of Female Athletes-Reply (1987) (0)
[The gene defect for Finnish hereditary amyloidosis has been found]. (1991) (0)
Interval in Distal 21q (1996) (0)
Science Signaling Podcast: 15 April 2014 (2014) (0)
Red cell glutathione reductase activity in patients with bone-marrow trisomy 8. (1976) (0)
Significant Down-Regulation of BAALC during Lineage Specific Hematopoietic Differentiation. (2004) (0)
Contents, Vol. 19, 1977 (1977) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Abstract 1753: Genomic and transcriptomic characterization of congenital trisomy reveal possible role for RB1 and MET (2019) (0)
Lynch syndrome founder mutations in families of Navajo and German-American heritage. (2004) (0)
Subject Index Vol. 22, 1978 (1978) (0)

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