Uta Francke

Q: What Schools Are Affiliated With Uta Francke

Uta Francke is affiliated with the following schools: Yale University, University of California, San Diego, University of California, Los Angeles, Stanford University, Baylor College of Medicine, Ruhr University Bochum, Cornell University, University of Washington, University of California, San Francisco

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Why Is Uta Francke Influential?

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According to Wikipedia, Uta Francke is a German-American physician-geneticist known for her accomplishments in mapping genes to specific chromosome locations and discovering the genes and underlying mutations responsible for Prader-Willi and Rett syndromes. Her work on detailed mapping of human chromosome laid the foundation of the Human Genome Project and discovery of many other rare genetic disorders. She is currently a professor of Genetics and Pediatrics Emerita at Stanford University. She has also served as a consultant to 23andMe Inc since 2007, and as a part-time employee from 2010-2013.

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Uta Francke's Published Works

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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

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 (1999) (4591)
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. (1985) (1878)
Human proto‐oncogene c‐kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. (1987) (1557)
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors (1986) (1004)
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. (1989) (969)
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. (1986) (933)
Wiskott–Aldrich Syndrome Protein, a Novel Effector for the GTPase CDC42Hs, Is Implicated in Actin Polymerization (1996) (895)
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome (1993) (868)
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome (1994) (861)
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. (1978) (676)
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. (1987) (662)
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21 (2006) (648)
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. (1987) (569)
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. (1985) (533)
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. (1997) (515)
The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A (1992) (506)
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. (1999) (496)
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. (2007) (492)
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease (2011) (482)
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins (1987) (472)
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (1991) (442)
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. (1985) (438)
Trembler mouse carries a point mutation in a myelin gene (1992) (428)
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand (1995) (392)
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line (1987) (382)
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. (1979) (381)
Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (1992) (362)
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor (1993) (318)
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta‐thromboglobulin. (1988) (304)
A mouse model for Prader-Willi syndrome imprinting-centre mutations (1998) (302)
Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia (2012) (269)
SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice (2008) (266)
An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature. (1981) (260)
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region (1992) (259)
Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor (1984) (257)
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region (1992) (250)
Williams-Beuren syndrome: genes and mechanisms. (1999) (248)
Widespread changes in dendritic and axonal morphology in Mecp2‐mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks (2009) (245)
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. (1998) (240)
Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. (1994) (239)
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. (1993) (239)
A regular pattern of two types of 100-residue motif in the sequence of titin (1990) (234)
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. (1996) (233)
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci (2013) (228)
Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. (1991) (228)
A structural homologue of the N-formyl peptide receptor. Characterization and chromosome mapping of a peptide chemoattractant receptor family. (1992) (220)
Transforming growth factor β gene maps to human chromosome 19 long arm and to mouse chromosome 7 (1986) (218)
Report of the committee on human gene mapping by recombinant DNA techniques. (1982) (218)
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. (1999) (209)
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. (1995) (209)
Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. (1988) (199)
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8 (1990) (197)
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (2000) (193)
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. (1997) (193)
Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms. (2016) (185)
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders (1995) (182)
Digitized and differentially shaded human chromosome ideograms for genomic applications. (1994) (179)
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (1998) (178)
NFATc3, a Lymphoid-specific NFATc Family Member That Is Calcium-regulated and Exhibits Distinct DNA Binding Specificity (*) (1995) (174)
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. (1994) (172)
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. (1994) (172)
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. (1997) (167)
p48 Activates a UV-Damaged-DNA Binding Factor and Is Defective in Xeroderma Pigmentosum Group E Cells That Lack Binding Activity (1998) (166)
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. (1982) (165)
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. (1989) (164)
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. (1988) (162)
Structural comparison and chromosomal localization of the human and mouse IL-13 genes. (1993) (161)
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. (1995) (159)
A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. (1991) (154)
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. (1988) (154)
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations (2009) (152)
Developmental and transformation‐sensitive expression of the Sparc gene on mouse chromosome 11. (1986) (151)
Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. (1991) (151)
Guidelines for reporting clinical features in cases with MECP2 mutations (2001) (150)
Efficient Replication of over 180 Genetic Associations with Self-Reported Medical Data (2011) (149)
Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome (1997) (148)
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (1995) (148)
Roberts syndrome: a review of 100 cases and a new rating system for severity. (1993) (148)
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. (1988) (145)
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (2005) (144)
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. (2000) (141)
Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci (2011) (140)
Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. (1977) (139)
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. (1985) (138)
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. (1985) (138)
Diffuse polyclonal B-cell lymphoma during primary infection with Epstein-Barr virus. (1980) (136)
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. (1987) (134)
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. (2002) (134)
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome (1992) (131)
Molecular structure, chromosome assignment, and promoter organization of the human matrix Gla protein gene. (1990) (130)
The aniridia-Wilms tumor association: The critical role of chromosome band 11p13☆ (1980) (130)
Cardiovascular manifestations in men and women carrying a FBN1 mutation. (2010) (129)
Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. (1984) (128)
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. (1972) (128)
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets (2007) (128)
A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. (1993) (127)
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2. (1990) (125)
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. (1994) (124)
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. (1988) (124)
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. (1997) (123)
Frizzled 9 knock-out mice have abnormal B-cell development. (2005) (123)
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. (2002) (122)
Diverse growth hormone receptor gene mutations in Laron syndrome. (1993) (122)
Chromosomal organization of adrenergic receptor genes. (1990) (122)
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. (1984) (121)
Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. (1977) (120)
International Standing Committee on Human Cytogenetic Nomenclature (1976) (120)
CD14 is a member of the family of leucine-rich proteins and is encoded by a gene syntenic with multiple receptor genes. (1990) (119)
Structure and chromosomal localization of the mammalian agrin gene (1992) (119)
RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain. (1995) (118)
An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism (2006) (116)
Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice (2009) (110)
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. (1997) (110)
Comparison of Family History and SNPs for Predicting Risk of Complex Disease (2012) (109)
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations (2002) (109)
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism (1994) (109)
Genomic distribution and transcription of solitary HERV-K LTRs. (1993) (109)
Control of bone formation by the serpentine receptor Frizzled-9 (2011) (108)
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male (1987) (108)
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. (2002) (107)
Molecular Cloning, Mapping to Human Chromosome 1 q21-q23, and Cell Binding Characteristics of Spα, a New Member of the Scavenger Receptor Cysteine-rich (SRCR) Family of Proteins* (1997) (107)
Retinoblastoma and chromosome 13. (1976) (107)
A system of nomenclature for band patterns of mouse chromosomes (2004) (107)
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. (1985) (107)
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. (1998) (106)
cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12. (1994) (105)
Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. (1990) (104)
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. (1976) (104)
Conservation of autosomal gene synteny groups in mouse and man (1978) (103)
The new Ghent criteria for Marfan syndrome: what do they change? (2012) (102)
Molecular evolution of the human interleukin–8 receptor gene cluster (1992) (101)
The pallister mosaic syndrome. (1977) (99)
The human gene for the beta subunit of nerve growth factor is located on the proximal short arm of chromosome 1. (1983) (99)
Marfan Database (third edition): new mutations and new routines for the software (1998) (98)
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. (1993) (97)
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. (1987) (97)
An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene. (1997) (96)
Chromosome mapping of the growth hormone receptor gene in man and mouse. (1989) (96)
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. (1986) (96)
Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11. (1983) (96)
Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q. (1977) (96)
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. (1993) (95)
Sporadic bilateral retinoblastoma and 13q- chromosomal deletion. (1976) (94)
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands (2008) (94)
Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse. (1979) (92)
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. (1996) (91)
Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader–Willi syndrome mouse models (2005) (89)
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure (2008) (89)
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. (1999) (89)
Mapping of genes for inhibin subunits α, βA, and βB on human and mouse chromosomes and studies of jsd mice (1989) (86)
Sequential expression of murine homeo box genes during F9 EC cell differentiation. (1986) (86)
Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family. (1988) (86)
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. (1995) (85)
Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. (1987) (85)
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. (1984) (84)
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. (1996) (84)
Chromosomal mapping of genes involved in growth control. (1986) (83)
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). (1990) (83)
A genetic variant near olfactory receptor genes influences cilantro preference (2012) (83)
Chromosomal mapping of the gene for the type II insulin-like growth factor receptor/cation-independent mannose 6-phosphate receptor in man and mouse. (1988) (82)
Two main groups of mouse major urinary protein genes, both largely located on chromosome 4. (1982) (81)
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome (2008) (81)
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing (2013) (81)
Identification of mouse chromosomes required for murine leukemia virus replication (1977) (81)
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. (2001) (81)
A novel GC–rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes (1992) (80)
Identification of cis-regulatory elements for MECP2 expression. (2006) (80)
Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas (1979) (77)
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. (1988) (77)
cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19. (1990) (76)
Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. (1986) (76)
Human genes for U2 small nuclear RNA map to a major adenovirus 12 modification site on chromosome 17 (1985) (76)
RETRACTED: The TSG101 Tumor Susceptibility Gene Is Located in Chromosome 11 Band p15 and Is Mutated in Human Breast Cancer (1997) (75)
Growth hormone receptor deficiency in Ecuador. (1999) (75)
Human Luteinizing hormone-releasing hormone gene (LHRH) is located on short arm of chromosome 8 (region 8p11.2 → p21) (1986) (73)
The glucocorticoid receptor gene is in 5q–q32 (1989) (73)
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome (2005) (73)
Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species (1988) (73)
Novel mutations in the Wiskott‐Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes (1999) (73)
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. (2000) (73)
Spectrum of MECP2 mutations in Rett syndrome (2001) (71)
Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4). (1992) (71)
Gene for monoamine oxidase type A assigned to the human X chromosome (1981) (70)
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation (2009) (69)
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells (2011) (68)
Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes (1978) (68)
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. (1987) (67)
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. (1992) (67)
Chromosome assignment of a murine glucocorticoid receptor gene (Grl-1) using intraspecies somatic cell hybrids (1980) (67)
Aniridia caused by a heritable chromosome 11 deletion. (1979) (67)
The serotonin receptor subtype 2 locusHTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14 (1990) (66)
Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and maps to chromosome 1q21-23 (1989) (66)
The Vin-1 gene, identified by provirus insertional mutagenesis, is the cyclin D2. (1993) (66)
Homologous genes for enolase, phosphogluconate dehydrogenase, phosphoglucomutase, and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome 1p. (1978) (66)
Congenital anomalies including the VATER association in a patient with del(6)q deletion. (1977) (65)
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. (1982) (65)
Genetic variants associated with breast size also influence breast cancer risk (2012) (65)
Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. (1977) (64)
Multi-exon deletions of the FBN1 gene in Marfan syndrome (2001) (64)
High-resolution ideograms of trypsin-Giemsa banded human chromosomes. (1981) (64)
Marfan's syndrome and other disorders of fibrillin. (1994) (64)
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. (1986) (64)
The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice. (1987) (64)
The c-Ha-ras1, insulin and β-globin loci map outside the deletion associated with aniridia-Wilms' tumour (1983) (63)
Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. (1986) (62)
Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. (1992) (62)
Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. (1981) (61)
Chromosomal localization of human Na+,K+-ATPase α- and β-subunit genes (1988) (61)
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23 (1998) (60)
Insulin-degrading enzyme: stable expression of the human complementary DNA, characterization of its protein product, and chromosomal mapping of the human and mouse genes. (1990) (59)
Report of the committee on the genetic constitution of chromosome 6. (1980) (59)
Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. (1992) (59)
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. (2007) (59)
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. (1999) (58)
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23 (1999) (57)
Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year (2011) (57)
Half chromatid mutations: transmission in humans? (1975) (57)
Mechanisms of Disease: neurogenetics of MeCP2 deficiency (2006) (56)
Mouse chromosome 5 codes for ecotropic murine leukaemia virus cell-surface receptor (1978) (56)
Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf. (1991) (56)
Guidelines for human linkage maps An International System for Human Linkage Maps (ISLM, 1990) (1991) (56)
Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. (1989) (55)
Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers. (1995) (55)
Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes (1991) (55)
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. (1973) (54)
Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. (1995) (53)
Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient (1994) (53)
Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. (1980) (53)
Duplication 12q mosaicism in two unrelated patients with a similar syndrome. (1980) (52)
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. (1998) (52)
Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region. (1993) (52)
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. (1989) (52)
Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region. (2001) (52)
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. (1988) (51)
Genomic organization and chromosomal localization of the TAPA-1 gene. (1991) (51)
Karyotypic, virologic, and immunologic analyses of two continuous lymphocyte lines established from New Zealand black mice: possible relationship of chromosomal mosaicism to autoimmunity. (1972) (51)
Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene. (1989) (51)
Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen→q32) using somatic cell hybrids and monoclonal anti-M antibody (1982) (50)
Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines. (1987) (50)
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion (2009) (50)
Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. (1993) (49)
Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome (1979) (49)
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse. (1990) (49)
The question of heterogeneity in Marfan syndrome (1995) (48)
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. (1998) (48)
Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. (1986) (48)
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. (1985) (48)
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). (1991) (47)
cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. (1991) (47)
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. (1995) (47)
Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis. (1994) (47)
Molecular cloning, chromosomal mapping, and characterization of the mouse UDP-galactose:ceramide galactosyltransferase gene. (1996) (46)
Chromosome mapping of human cell surface molecules: Monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11 (1983) (45)
Organization, regulatory sequences, and alternatively spliced transcripts of the mucosal addressin cell adhesion molecule-1 (MAdCAM-1) gene. (1995) (44)
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. (1998) (44)
Localisation of the Gγ-, Aγ-, δ- and β-globin genes on the short arm of human chromosome 11 (1979) (43)
Proximal 4p-deletion: phenotype differs from classical 4p-syndrome. (1977) (43)
DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles. (1991) (42)
The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20. (1982) (42)
TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog (1999) (42)
Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights. (1997) (41)
Molecular analysis of the Mov 34 mutation: transcript disrupted by proviral integration in mice is conserved in Drosophila. (1990) (41)
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. (1992) (41)
Ube3a expression is not altered in Mecp2 mutant mice. (2006) (40)
Supermelanotic hybrids derived from mouse melanomas and normal mouse cells (1980) (40)
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (1991) (40)
Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. (1998) (40)
Identification of the mouse chromosomes by quinacrine mustard staining. (1971) (40)
The 2p Partial Trisomy Syndrome: Duplication of Region 2p23 → 2pter in Two Members of a t(2;7) Translocation Kindred (1976) (40)
Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. (1976) (39)
Adrenal glucocorticoids regulate adipsin gene expression in genetically obese mice. (1989) (39)
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood (1996) (38)
The Second International Symposium on the Marfan Syndrome. (1993) (38)
The three genes of the human FCGR1 gene family encoding Fc gamma RI flank the centromere of chromosome 1 at 1p12 and 1q21. (1996) (37)
The structural gene for the M1 subunit of ribonucleotide reductase maps to chromosome 11, band p15, in human and to chromosome 7 in mouse. (1988) (37)
Gene dose effect: regional mapping of human nuceloside phosphorylase on chromosome 14. (1976) (37)
Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse. (1991) (36)
The β-globin gene is on the short arm of human chromosome 11 (1980) (36)
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome. (1988) (36)
Requirement of the human chromosome 11 long arm for replication of herpes simplex virus type 1 in nonpermissive Chinese hamster x human diploid fibroblast hybrids (1982) (36)
Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome (1979) (36)
Fusion of DNA region to murine immunoglobulin heavy chain locus corresponds to plasmacytoma‐associated chromosome translocation. (1983) (35)
The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. (1990) (35)
Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p),dup(2q),dup(3p),dup(3q). (1978) (35)
Sequence analysis, expression and chromosomal localization of a gene, isolated from a subtracted human retina cDNA library, that encodes an insulin-like growth factor binding protein (IGFBP2). (1991) (35)
Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. (1995) (33)
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. (1992) (33)
Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. (1998) (33)
Homogeneously staining chromosome regions and double minutes in a mouse adrenocortical tumor cell line. (1980) (33)
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. (1988) (32)
Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation (1974) (32)
The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21→qter (2004) (32)
Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp. (1995) (32)
The involvement of 6p in melanoma. (1986) (32)
Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation. (1998) (32)
Chromosome localization and cDNA sequence of murine and human genes forras p21 GTPase activating protein (GAP) (1989) (31)
A gene for Wilms tumour? (1990) (31)
Genome-Wide Association Analysis Implicates Elastic Microfibrils in the Development of Nonsyndromic Striae Distensae (2013) (31)
Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21. (1989) (31)
Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. (1989) (31)
Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and southern blotting: High-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1 (1984) (31)
Human U1 small nuclear RNA pseudogenes do not map to the site of the U1 genes in 1p36 but are clustered in 1q12-q22 (1985) (31)
Duplication 11 (q21 to 23 leads to qter) syndrome. (1977) (30)
Expression of human Wiskott–Aldrich syndrome protein in patients’ cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins (2000) (30)
DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2. (1992) (30)
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly (1998) (30)
Amplified DNA in Y1 mouse adrenal tumor cells: isolation of cDNAs complementary to an amplified c-Ki-ras gene and localization of homologous sequences to mouse chromosome 6. (1984) (30)
Neonatal Maternal Deprivation Response and Developmental Changes in Gene Expression Revealed by Hypothalamic Gene Expression Profiling in Mice (2010) (30)
Human embryonic/atrial myosin alkali light chain gene: characterization, sequence, and chromosomal location. (1990) (30)
The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. (1986) (30)
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome (2000) (29)
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. (1994) (29)
Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. (1991) (28)
Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome (2012) (28)
Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. (1991) (28)
frizzled 9 is expressed in neural precursor cells in the developing neural tube (2001) (28)
The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. (1995) (27)
Genes and gene products involved in Marfan syndrome. (1993) (27)
Structure, chromosomal localization, and expression pattern of the murine Magp gene. (1993) (27)
Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins (1992) (27)
Structure and chromosomal mapping of a highly polymorphic repetitive DNA sequence from the pseudoautosomal region of the mouse sex chromosomes. (1990) (27)
The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q (1999) (27)
Duplication 2q33→2q37 due to paternal ins (12;2) translocation (1978) (27)
The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. (1990) (26)
Activation of humanα1-antitrypsin gene in rat hepatoma × human fetal liver cell hybrids depends on presence of human chromosome 14 (1983) (26)
Assignment of the human gene for the glucocorticoid receptor to chromosome 5. (1985) (26)
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. (1976) (26)
Chromosomal mapping of four different integration sites of Moloney murine leukemia virus including the locus for alpha 1(I) collagen in mouse. (1986) (26)
The N-ras oncogene assigned to the short arm of human chromosome 1. (1983) (26)
Identity of human Lyb‐2 and CD72 and localization of the gene to chromosome 9 (1991) (26)
Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta 2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier. (1978) (26)
Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors (1993) (25)
DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination. (1984) (25)
Generation of a human chromosome 18-specific YAC clone collection and mapping of 55 unique YACs by FISH and fingerprinting. (1993) (25)
Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. (1995) (25)
cDNA cloning of the two subunits of human CAAX farnesyltransferase and chromosomal mapping of FNTA and FNTB loci and related sequences. (1993) (24)
Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity. (1989) (24)
Assignment of the gene SLC1A2 coding for the human glutamate transporter EAAT2 to human chromosome 11 bands p13-p12. (1995) (24)
Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome. (1996) (24)
Cytogenetic analysis in melanoma and nevi. (1991) (24)
Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor. (1992) (24)
Duplication 11p11.3 14.1 to meiotic crossing-over (1980) (23)
Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. (1990) (23)
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts (2007) (23)
Cattanach's translocation: cytological characterization by quinacrine mustard staining. (1971) (23)
Rapid evolution of human pseudoautosomal genes and their mouse homologs (2009) (23)
Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins (2004) (23)
Assignment of the gene for cystathionine β-synthase to human chromosome 21 in somatic cell hybrids (2004) (23)
The human C-reactive protein gene (CRP) and serum amyloid P component gene (APCS) are located on the proximal long arm of chromosome 1 (2004) (23)
Multiple chromosomal rearrangements in a spontaneously arising t(6;7) rat immunocytoma juxtapose c-myc and immunoglobulin heavy chain sequences. (1986) (23)
Retinoblastoma and chromosome 13. (1976) (22)
Mouse latent TGF-beta binding protein-2: molecular cloning and developmental expression. (1997) (22)
Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). (1979) (22)
Direct assignment of orosomucoid to human chromosome 9 and α2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids (1985) (22)
An X-linked human collagen transgene escapes X inactivation in a subset of cells. (1992) (22)
Comparative gene mapping: murine lambda light chain genes are located in region cen to B5 of mouse chromosome 16 not homologous to human chromosome 21. (1982) (22)
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. (1989) (22)
Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities (2010) (22)
Mapping of genes for inhibin subunits alpha, beta A, and beta B on human and mouse chromosomes and studies of jsd mice. (1989) (22)
Report of the committee on human gene mapping by recombinant DNA techniques. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. (1982) (21)
Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions. (1975) (21)
Origin of mutations in two families with X-linked chronic granulomatous disease. (1990) (21)
The glucocorticoid receptor gene is in 5q31-q32 [corrected]. (1989) (21)
Cloning and characterization of a novel zinc finger gene in Xp11.2. (1995) (21)
Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. (1993) (21)
The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. (1993) (21)
Genes for HMG-CoA reductase and serotonin 1a receptor are on mouse chromosome 13 (1989) (20)
Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). (1989) (20)
The human gene for beta glucuronidase is on chromosome 7. (1976) (20)
Tumor necrosis factor receptor genes,TNFR1 andTNFR2, on human chromosomes 12 and 1 (1991) (20)
Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis. (1983) (20)
Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft). (1997) (20)
A radiation hybrid map of human chromosome 18. (1994) (20)
Karyotype evolution of the simian virus 40--transformed human cell line LNSV. (1979) (19)
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations (1991) (19)
Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1). (1998) (19)
Familial trisomy 20p five cases and two carriers in three generations a review. (1977) (19)
Requirement of human chromosomes 19, 6 and possibly 3 for infection of hamster × human hybrid cells with baboon M7 type C virus (1979) (18)
Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization. (1985) (18)
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? (1997) (18)
Clinical objectives in medical genetics for undergraduate medical students (1998) (18)
Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22. (1981) (18)
Cytological identification of the chromosomes involved in Searle's translocation and the location of the centromere in the X chromosome of the mouse. (1972) (18)
Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method. (1997) (18)
Mapping of polypeptide genes by two-dimensional gel electrophoresis of hybrid cell extracts. (1982) (17)
Chromosome localization and expression pattern of Lmyc and Bmyc in murine embryonal carcinoma cells. (1988) (17)
On the bumpy road towards ‘personalized medicine’ (2010) (17)
The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22→q24) by somatic cell hybrid analysis and in situ hybridization (1986) (17)
Analysis of the T(3;?)6 Ca and T(14;17)264Ca translocations in the mouse by quinacrine mustard staining. (1971) (17)
Answer to criticism of Morton and Lalouel. (1977) (17)
Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. (1998) (16)
Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). (1984) (16)
Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes. (1974) (16)
Regional localization of the human genes for malate dehydrogenase-1 and isocitrate dehydrogenase-1 on chromosome 2 by interspecific hybridization using human cells with the balanced reciprocal translocation t(1;2) (q32;q13). (1975) (16)
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. (1988) (16)
The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome (1997) (15)
Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. (1996) (15)
Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. (1989) (15)
Chromosomal localization of the gene for AA-type platelet-derived growth factor receptor (PDGFRA) in humans and mice. (1991) (15)
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. (1992) (15)
Autosomal recessive neuromuscular disorder in a transgenic line of mice (1994) (15)
UKCCCR guidelines for the use of cell lines in cancer research (1999) (15)
Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN). (1994) (15)
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. (1986) (14)
Recombination of 4p16 DNA markers in an unusual family with Huntington disease. (1992) (14)
Report of the first international workshop on human chromosome 18 mapping. (1993) (14)
The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19. (1986) (14)
Regional assignments of three polymorphic DNA segments on human chromosome 15 (1986) (14)
Assignment of genes to the human X chromosome by the two-dimensional electrophoretic analysis of total cell proteins from rodent-human somatic cell hybrids. (1981) (14)
Molecular Genetics of Steroid 5 a-Reductase 2 Deficiency (2013) (14)
Assignment of the genes coding for pyrophosphatase and hexokinase-1 to mouse chromosome 10: implications for comparative gene mapping in man and mouse. (1978) (13)
Human cyclin B1 gene (CCNB1) assigned to chromosome 5 (q13-qter) (1992) (13)
Restriction of human adenovirus replication in Chinese hamster cell lines and their hybrids with human cells. (1987) (13)
The gene encoding the Ia-Associated invariant chain is located on chromosome 18 in the mouse (2004) (13)
Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human Chromosome 5, band q34, and proximal mouse Chromosome 11 (1994) (13)
High-density radiation hybrid map of human chromosome 18 and contig of 18p. (1996) (13)
Assignment of the structural gene for subunit M1 of human ribonucleotide reductase to the short arm of chromosome 11. (1985) (13)
Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. (1998) (12)
Severe Growth Hormone Insensitivity (Laron Syndrome) due to Nonsense Mutation of the GH Receptor in Brothers from Russia (1995) (12)
Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15. (1987) (12)
Intrachromosomal gene mapping in man: The gene for tryptophanyl-tRNA synthetase maps in region q21→qter of chromosome 14 (1977) (12)
Localization of the CAMKG gene encoding gamma isoforms of multifunctional calcium/calmodulin-dependent protein kinase (CaM kinase) to human chromosome 10 band q22 and mouse chromosome 14. (1994) (12)
Genes forβ2-adrenergic receptor and platelet-derived growth factor receptor map to mouse chromosome 18 (1989) (12)
Comparative gene mapping in man and mouse: assignment of the genes for lactate dehydrogenase-A, peptidase-D, and isocitrate dehydrogenase-2 to mouse chromosome 7. (1978) (11)
The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. (1976) (11)
Linkage Groups II and XII of the Mouse: Cytological Localization by Fluorochrome Staining (1971) (11)
Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. (1988) (11)
Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23. (1997) (11)
Mapping of the human tissue-type plasminogen-activator (plat) gene to chromosome-8 (8p12-q11.2) (1985) (11)
The gene for the species antigen on human chromosome 11 is on the short arm. (1976) (11)
Assignment ofAmog (adhesion molecule on glia) gene to mouse chromosome 11 nearZfp-3 andAsgr-1,2 and to human chromosome 17 (1990) (11)
A variable tandem repeat locus mapped to chromosome band 10q26 is amplified and rearranged in leukocyte DNAs of two cancer patients. (1986) (11)
Is Rett syndrome caused by a triplet repeat expansion? (1997) (11)
Characterisation of the chromosome breakpoints in a patient with a constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12) and neuroblastoma. (1995) (11)
Partial trisomy 20p derived from a t(18;20) translocation (1976) (11)
Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen→q13 (2004) (11)
Comparative gene mapping: the linkage relationships of the homologous genes for phosphoglucomutase and peptidase S are conserved in man and mouse. (1978) (10)
The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome. (1996) (10)
The band patterns of twelve D 98/AH-2 marker chromosomes and their use for identification of intraspecific cell hybrids (2004) (10)
An expressed beta-tubulin gene, TUBB, is located on the short arm of human chromosome 6 and two related sequences are dispersed on chromosomes 8 and 13. (1986) (10)
Karyotypic analysis of methotrexate-resistant and sensitive mouse L5178Y cells. (1981) (10)
Prenatal diagnosis of trisomy 9 (1975) (10)
H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. (1982) (10)
Molecular Diagnosis and Endocrine Evaluation of a Patient with a Homozygous 7.0 kb Deletion of the Growth Hormone (GH) Gene Cluster: Response to Biosynthetic GH Therapy (1997) (10)
Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes (2004) (9)
Properties of Cystinotic Fibroblast-D98 Cell Hybrids studied by Somatic Cell Hybridization (1973) (9)
Special Notice to Contributors and Subscribers (1976) (9)
Assignment of the human α2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids (1992) (9)
Mapping of synapsin II (SYN2) genes to human chromosome 3p and mouse chromosome 6 band F. (1995) (9)
Insulin-like growth factor I receptor gene is concordant with C-fes protooncogene and mouse chromosome 7 in somatic cell hybrids (1989) (9)
Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. (1995) (9)
The physical map of Mus musculus chromosome 11 reveals evolutionary relationships with different syntenic groups of genes in Homo sapiens. (1987) (9)
The penta-X syndrome. (1980) (8)
Molecular analysis of synapsin i, a candidate gene for rett syndrome (1987) (8)
Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome. (1979) (8)
Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11. (1976) (8)
Rett Syndrome—Clinical and Biological Aspects (1994) (8)
Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12. (1994) (8)
Modes of growth and spread of a transplantable, virus-producing murine (Moloney) sarcoma: karyotypic analyses. (1974) (8)
Evidence aganist the peripheral location of the Y chromosome in human metaphase cells. (1973) (8)
The beta-globin gene is on the short arm of human chromosome 11. (1980) (7)
Retraction. The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. (1998) (7)
Molecular cloning of the human homolog of a striatum-enriched phosphatase (STEP) gene and chromosomal mapping of the human and murine loci. (1995) (7)
Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies (2004) (7)
The human genome project: implications for the endocrinologist. (2001) (7)
Imprinted genes in the Prader-Willi deletion. (2007) (7)
Hageman (factor XII) locus on 7q? (1978) (7)
Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. (1977) (7)
Evidence for localization of the gene for hexosaminidase B to the cen→q13 region of human chromosome 5 using mouse × human hybrid cells (1978) (7)
Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat. (1977) (7)
The genes coding for pyruvate kinase (M2) and mannosephosphate isomerase are linked in man and mouse. (1978) (6)
Frizzled 9 knockout mice have abnormal B cell development (2004) (6)
Abstracts of meeting presentations (Part 5 of 11) (1979) (6)
Comparative mapping using somatic cell hybrids (1976) (6)
Gene forα2(I) collagen is on mouse chromosome 6 not 16 (1989) (6)
Report of the committee on the genetic constitution of chromosome 6. (1979) (6)
710 ASSIGNMENT OF THE FIRST HIGHLY POLYMORPHIC DNA MARKER LOCUS TO A HUMAN CHROMOSOME REGION (1981) (6)
Genetic heterogeneity in Laron syndrome (1993) (6)
Immediate chromosome diagnosis on bone marrow cells: an aid to management of the malformed newborn infant. (1979) (6)
Silver staining studies on the short arm variant of human chromosome 17 (1978) (5)
Absence of H-Y antigen in an XY female with campomelic dysplasia (1981) (5)
Technologies for detecting heritable mutations in human beings. Washington, D.C.: U.S. Government Printing Office, 1986, 144 pp, $8.00 (1987) (5)
Deletions and candidate genes in Williams syndrome (1994) (5)
2012 William Allan Award: Adventures in cytogenetics. (2013) (5)
Abstracts of meeting presentations (Part 2 of 5) (1979) (5)
Microdeletions and Mendelian Phenotypes (1987) (5)
Homologous genes for enolase, phosphogluconate dehydrogenase, phosphoglucomutase, and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome lp (hybrid cells/comparative mapping/enzyme electrophoresis/mouse gene mapping) (1978) (5)
A Germline Variant in the TERT Gene Is a Novel Predisposition Allele Associated with Myeloproliferative Neoplasms (2012) (5)
Induced reciprocal translocation in transgenic mice near sites of transgene integration (2004) (4)
Cytogenetic and molecular genetic studies of a patient with atypical lymphoid hyperplasia. (1987) (4)
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) (1992) (4)
Chromosomal assignments of three random RFLP loci defined by base-pair changes in MspI sites. (1983) (4)
Calendar of Events: 1991 — 1992 (1991) (4)
How will genomic information become integrated into the health care system? (2013) (4)
Mapping of human and murine genes for latent TGF-β binding protein-2 (LTBP2) (2004) (4)
Assignment of the human alpha 2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids. (1992) (4)
Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests (1992) (4)
The physical map ofMus musculus chromosome 11 reveals evolutionary relationship with different syntenic groups of genes inHomo sapiens (2005) (4)
Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17. (1999) (4)
Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). (1995) (4)
Abstracts of meeting presentations (Part 3 of 11) (1979) (4)
Human Ul Small Nuclear RNA Pseudogenes Do Not Map to the Site of the Ul Genes in lp36 but Are Clustered in lql2-q22 (4)
Localisation of the G gamma-, A gamma-, delta- and beta-globin genes on the short arm of human chromosome 11. (1979) (4)
SEX-CHROMOSOME ABNORMALITIES IN HUSBANDS AND WIVES (1975) (3)
Estimation of JAK2 V617F Prevalence by Detection of the Mutation in Saliva Samples From Online MPN and General Population Cohorts (2012) (3)
Molecular genetics. A gene for Wilms tumour? (1990) (3)
10p-: a new autosomal deletion syndrome? (1975) (3)
The Gene for the Ubiquitous Octamer-Binding Protein Oct-1 Is on Human Chromosome-1, Region Cen-Q32, and on Mouse Chromosome-1 (1989) (3)
Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. (1995) (3)
Inherited t(13q14q) in two retarded sisters. (1972) (3)
A common SacI polymorphism in the gene for the M1 subunit of ribonucleotide reductase (RRM1). (1989) (3)
Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. (1978) (3)
Regional assignment of genes for phosphoglucomutase2 and peptidase S to 4pter→4q21 in man (1978) (3)
Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions. (1975) (3)
Clinical and molecular cytogenetics and gene mapping: principles and techniques. (1995) (3)
The 2p Partial Trisomy Syndrome-Reply (1977) (3)
Regional mapping on human genes for phosphoglucomutase-1 on chromosome 1 and beta-glucuronidase on chromosome 7 using mouse x human hybrids. (1978) (3)
Two RFLPs associated with the human endogenous retroviral element S71 on chromosome 18q21. (1989) (3)
Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. (1993) (2)
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant (2019) (2)
High resolution cytogenetic evaluation of couples with recurring fetal wastage (2004) (2)
Localization of the LDHA gene to 11p14→11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13 (1986) (2)
Ube 3 a expression is not altered in Mecp 2 mutant mice (2006) (2)
thrombocytopenia are caused by mutations of the same gene The Wiskott-Aldrich syndrome and X-linked congenital (2011) (2)
Mapping of polypeptide genes by two-dimensional gel electrophoresis of hybrid cell extracts. (1982) (2)
Genetic characterization of a human endogenous retroviral element located on chromosome 18q21. (1989) (2)
The mouse Fubp gene maps near the distal end of chromosome 3. (1999) (2)
Variation in human HPRT and its relationship to neurologic and behavioral manifestations. (1980) (2)
Regional mapping of beta-glucuronidase (beta GUS) on human chromosome 7. (1978) (2)
Pillars Article: Isolation of a Novel Gene Mutated in Wiskott-Aldrich Syndrome. Cell. 1994. 78: 635-644. (2018) (1)
My Year as 1999 ASHG President (2000) (1)
Chromosome banding By A. T. Sumner. London: Unwin Hyman. (1990). 434 pp. UK £60.00 (1992) (1)
Elusive chromosome anomalies. (1986) (1)
Reply to Rivera. (1993) (1)
Duplicated Segment (1)
Assignment of Human Genes for Phosphorylase Kinase Subunits a (PHKA) to Xql2-q13 and ,B (PHKB) to 16ql2-q13 (2006) (1)
CHROMOSOMAL ASSIGNMENT OF THE HUMAN GENE FOR THE TRIFUNCTIONAL FOLATE-DEPENDENT ENZYME: EVIDENCE FOR MULTIPLE LOCI (1987) (1)
Acquisition of a Novel T Cell Surface Protein During Intrathymic T Cell Maturation Encoded for by the Short Arm of Chromosome 11 (1984) (1)
Precise mapping of genes for phosphoglucomutase-1 and uridine monophosphate kinase on the short arm of human chromosome 1. (1978) (1)
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene. (1993) (1)
Increased dosage of DSCR1 and DYRK1A on chromosome 21 destabilizes NFAT regulation and accounts for Down syndrome phenotypes (2006) (1)
Instructions for the preparation of gene mapping reports (1995) (1)
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics (2016) (1)
The Human Gene for /3 Glucuronidase is on Chromosome 7 (2006) (1)
Mapping of the human tissue-type plasminogen-activator gene on chromosome (8p21-]q11.2) (1986) (1)
Cytogenetics and somatic cell genetics: the impact of chromosome banding. (1977) (1)
Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation. (1974) (1)
Ideograms of high-resolution trypsin-Giemsa banded human chromosomes. (1978) (1)
Regional localization of 56 new human chromosome 18-specific yeast artificial chromosomes. (1994) (1)
Recurring Origins ofAllopolyploid Species inAsplenium (1985) (1)
Discovery of the Rett syndrome gene and its function. (2000) (1)
Subject Index, Vol. 68, 1995 (1995) (0)
References to the committee reports (1975) (0)
Chromosomal variation in man. A catalog of chromosomal variants and anomalies (1976) (0)
Subject Index Vol. 22, 1978 (1978) (0)
Direct‐to‐consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience (2020) (0)
Cytogenetic approaches to mouse models of human genetic diseases. (1980) (0)
Rapid characterization of somatic cell hybrids using fluorescent in situ hybridization (1991) (0)
Abstract 265: Reduced Aortic Wall Motion and Cyclic Strain in a Williams-Beuren Syndrome Mouse Model Due to Changes in Vessel Structure (2007) (0)
MARFAN SYNDROME (2020) (0)
769 ASSIGNMENT OF THE HUMAN GENE FOR LIVER TYPE PHOSPHO-FRUCTOKINASE ISOZYME TO CHROMOSOME 21 USING SOMATIC CELL HYBRIDS (1981) (0)
Book Review:Cytogenetics, Environment and Malformation Syndromes. Daniel Bergsma, R. Neil Schimke (1977) (0)
Effects of Subretinol ond Systemic Osmolality on the Rote of Subretinol Fluid Resorption (1984) (0)
28. Rett syndrome and beyond: recurrent spontaneous and familial mutations at CpG hotspots in the methyl-CpG binding protein-2 gene (2000) (0)
Human Genetic Mutant Cell Repository Reports Index (1980) (0)
COMPARATIVE lution ? (0)
Contents, Vol. 38, 1984 (1984) (0)
Linkage Relationships of X-linked Enzymes (2006) (0)
A healthy dose of genetics (2006) (0)
Missense mutations in the growth hormone receptor dimerization region in Laron syndrome (1994) (0)
Subject Index Vol. 32, 1982 (1982) (0)
Evidence for localization of the gene for hexosaminidase B to the cen leads to q13 region of human chromosome 5 using mouse x human hybrid cells. (1978) (0)
Subject Index Vol. 56, 1991 (1991) (0)
Correlation of Symptom Assessment with Genotyping Analysis of Saliva Samples in a Large Cohort of Myeloproliferative Neoplasm Patients (2012) (0)
Comparison ofNonerythroid (x-Spectrin GenesReveals Strict Homology amongDiverse Species (1988) (0)
The gene for the species antigen on human chromosome 11 is on the short arm. (1976) (0)
Familial idiopathic gonadotropin deficiency not linked to gene for gonadotropin-releasing hormone (GnRH) in Brazilian kindred (1994) (0)
ASBMR 30th Annual Meeting 1001–1300 (2011) (0)
Catalog of mapped human gene markers. (1980) (0)
Fetal research and applications : a conference summary (1994) (0)
Identification of five novel FBN1 mutations by non-radioactive single-strand conformation analysis (1994) (0)
Mammalian Cells Mammalian Cell Genetics Martin L. Hooper (1987) (0)
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine ,f-synthase and the fB subunit of propionyl-CoA carboxylase (mitochondrial precursor/proplonlc acidemia/homocystinuria/chromosome 3/chromosome 21) (2016) (0)
Genetic heterogeneity in Laron syndrome. Discussion (1993) (0)
GROWTH HORMONE INSENSITIVITY SYNDROME (1993) (0)
Properties of hybrids of mouse melanoma and normal cells. Abstr. (1979) (0)
Contents, Vol. 28, 1980 (1980) (0)
The Chromosome, Structure and Aberrations (1989) (0)
Our Readers and Contributors. (0)
Molecular characterization of Drosophila and human checkpoint kinase 1 gene (1998) (0)
Contents Vol. 68, 1999 (1999) (0)
REMARKS ON CONSTITUTIONAL 5Q DELETIONS. AUTHORS' REPLY (1993) (0)
New Editors, Features and Procedures (1989) (0)
Intrachromosomal gene mapping in man: the gene for tryptophyl-tRNA synthetase maps in region q21 leads to qter of chromosome 14. (1977) (0)
Subject Index Vol. 25, 1979 (1979) (0)
Assignment of the nucleoside phosphorylase (NP) gene locus to region 14pter leads to 14q21. (1976) (0)
Subject Index Vol. 28, 1980 (1980) (0)
DETECTION OF ECUADOREAN LARON SYNDROME GENE CARRIERS BY MOLECULAR GENETIC ANALYSIS OF GUTHRIE CARD BLOOD SAMPLES (1993) (0)
RANDOM X-INACTIVATION IN A FEMALE WITH AN INTERSTITIAL SHORT ARM DELETION OF THE X CHROMOSOME (1977) (0)
Chromatin Structure and Function. Molecular and Cellular Biophysical Methods. Chromatin Structure and Function. Levels of Organization and Cell Structure (1980) (0)
Chromosomal assignment of three human melanocyte-specific genes. (1996) (0)
Autosomal of Mice Recessive Neuromuscular Disorder Transgenic (1994) (0)
Identification and uniparental expression of a novel gene from the Prader-Willi region of chromosome 15 (1994) (0)
Chapter 34. Marfan Syndrome (2010) (0)
EXCLUSION OF THE GHRH GENE AS A CANDIDATE FOR MOST CASES OF FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY (1993) (0)
Hemizygosity at the IGF1R locus correlates with growth delay in the ring chromosome 15 syndrome (1994) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Detection of beterozygous carriers of the Lescb-Nyban syndrome by electropboresis of bait root lysates (1973) (0)
Book Review:The Eye in Chromosome Duplications and Deficiencies. Marcelle Jay (1978) (0)
Regional assignment of genes for phosphoglucomutase2 and peptidase S to 4pter leads to 4q21 in man. (1978) (0)
Peter John Langford Cook, BA, MB Cantab., PhD Lond. (1982) (0)
CORRIGENDUM: Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics (2017) (0)
Title Page / Table of Contents / Abstracts (1991) (0)
Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11. (1976) (0)
Sequence divergence and chromosomal rearrangements during the evolution of human pseudoautosomal genes and their mouse homologs (1994) (0)
Induced Chromosome 5G2 Deletions Cause Hypersociability and Other Features of Williams-Beuren Syndrome in Mice (2009) (0)
Contents, Vol. 56, 1991 (2004) (0)
Subject Index Vol. 42, 1986 (1986) (0)
Subject Index Vol. 38, 1984 (1984) (0)
ASHG AWARDS AND ADDRESSES 2012 William Allan Award: Adventures in Cytogenetics 1 (2013) (0)
Subject Index Vol. 86, 1999 (1999) (0)
Identification of mouse chromosomes which cannot suppress malignancy in interspecific hybrid cells. Abstr. (1978) (0)
Contiguous amino-acid substitutions in the extracellular domain of the growth hormone receptor, identified in patients with laron syndrome, differently affect receptor binding affinity and membrane expression (1998) (0)
Contents, Vol. 32, 1982 (1982) (0)
Subject Index, Vol. 70, 1995 (1995) (0)

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