Magnus Nordenskjöld
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Physics
Magnus Nordenskjöld's Degrees
- PhD Physics Stockholm University
- Masters Physics Uppsala University
- Bachelors Physics Lund University
Why Is Magnus Nordenskjöld Influential?
(Suggest an Edit or Addition)Magnus Nordenskjöld'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
- Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. (1992) (1419)
- Human estrogen receptor β-gene structure, chromosomal localization, and expression pattern (1997) (1118)
- The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. (1996) (1094)
- Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma (1988) (990)
- Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. (1997) (855)
- Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomes (1992) (583)
- Clonal genomic alterations in glioma malignancy stages. (1988) (557)
- Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas (1994) (502)
- Birt-Hogg-Dubé syndrome: diagnosis and management. (2009) (459)
- Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer (1993) (450)
- Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases (2017) (392)
- Loss of constitutional heterozygosity in human cancer. (1991) (352)
- Genetic origin of mutations predisposing to retinoblastoma. (1985) (344)
- Mitotic recombination of chromosome 17 in astrocytomas. (1989) (303)
- Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. (2007) (299)
- Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. (1990) (294)
- Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment (2014) (251)
- Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. (2001) (249)
- Clinical and genetic studies of Birt-Hogg-Dubé syndrome (2002) (224)
- Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. (1991) (223)
- Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. (1988) (223)
- Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13. (1987) (216)
- Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH) (2005) (212)
- Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. (1987) (208)
- Increased frequency of sister chromatid exchanges in cigarette smokers. (2009) (198)
- Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2 (2001) (192)
- Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target. (2011) (184)
- A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis (2013) (179)
- Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. (1990) (179)
- CHROMOSOME ABERRATIONS AND SISTER-CHROMATID EXCHANGE IN WORKERS IN CHEMICAL LABORATORIES AND A ROTOPRINTING FACTORY AND IN CHILDREN OF WOMEN LABORATORY WORKERS (1977) (164)
- Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas. (2016) (160)
- Chromosome 9 deletion mapping reveals interferon alpha and interferon beta-1 gene deletions in human glial tumors. (1991) (154)
- Frequent amplification of the telomerase reverse transcriptase gene in human tumors. (2000) (153)
- Cloning and characterization of a novel human gene related to vascular endothelial growth factor. (1996) (150)
- Subtelomeric rearrangements detected in patients with idiopathic mental retardation. (2002) (146)
- Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. (1993) (144)
- Deletion mapping in human renal cell carcinoma. (1989) (141)
- Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s. (1994) (135)
- Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. (1995) (134)
- Induction of DNA damage by menadione (2-methyl-1,4-naphthoquinone) in primary cultures of rat hepatocytes. (1984) (129)
- Inactivation of BHD in sporadic renal tumors. (2003) (129)
- Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains (2017) (128)
- Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. (2013) (127)
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. (2016) (123)
- Deletions on chromosome 22 in sporadic meningioma (1994) (122)
- Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. (2010) (119)
- Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. (1995) (118)
- Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population. (2002) (117)
- A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT (2013) (113)
- Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors. (1993) (113)
- Prediction of familial predisposition to retinoblastoma. (1986) (111)
- Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization (1994) (108)
- Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice (2007) (106)
- Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. (2007) (105)
- Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. (2011) (102)
- Novel filaggrin mutation but no other loss‐of‐function variants found in Ethiopian patients with atopic dermatitis (2011) (101)
- A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. (1998) (101)
- Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene. (2003) (101)
- Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. (2009) (100)
- Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors. (1994) (97)
- Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. (2014) (96)
- Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies (2005) (94)
- FISH-mapping of a 100-kb terminal 22q13 deletion (2002) (92)
- Characterization of PRF1, STX11 and UNC13D genotype‐phenotype correlations in familial hemophagocytic lymphohistiocytosis (2008) (91)
- A high degree of aneuploidy in frozen-thawed human preimplantation embryos (1999) (91)
- Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression (1994) (91)
- Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes (2008) (88)
- Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer (1997) (86)
- Copy number variation characteristics in subpopulations of patients with autism spectrum disorders (2011) (85)
- Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression (2010) (85)
- Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations (2010) (85)
- Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP (2019) (85)
- Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). (1993) (83)
- Genetic toxicity of dopamine. (1983) (83)
- Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10 (1993) (82)
- Genomic alterations in human breast carcinomas (1990) (82)
- Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA. (1994) (82)
- Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases. (1993) (81)
- Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations (2008) (77)
- Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers (2000) (74)
- The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language (2012) (71)
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability (2019) (70)
- Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency. (2015) (69)
- Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations. (2002) (68)
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (67)
- High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma. (2005) (66)
- Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G‐banding (2002) (66)
- Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome (2004) (64)
- Gain-of-function mutation of microRNA-140 in human skeletal dysplasia (2019) (63)
- Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris (2011) (62)
- Different mutations in PDE4D associated with developmental disorders with mirror phenotypes (2013) (59)
- Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity (2001) (59)
- Loss of heterozygosity in familial breast carcinomas. (1993) (58)
- Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. (1994) (57)
- Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis (2007) (57)
- Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients (2021) (57)
- Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome (2009) (56)
- Detailed physical map of human chromosomal region 11q12-13 shows high meiotic recombination rate around the MEN1 locus. (1991) (56)
- Distinct deleted regions on chromosome segment 16q23–24 associated with metastases in prostate cancer (1999) (56)
- Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line (2005) (55)
- Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC‐clone‐based array (2008) (55)
- Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia (2007) (53)
- Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis. (2006) (52)
- Characterization by phenotype of families with atopic dermatitis. (2000) (52)
- Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation (2017) (52)
- Expression of the neuronal form of pp60c-src in neuroblastoma in relation to clinical stage and prognosis. (1990) (51)
- Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. (2006) (51)
- Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia (2012) (51)
- Hematopoietic stem cell transplantation in severe congenital neutropenia (2011) (49)
- Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment (2003) (49)
- Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. (2003) (47)
- Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. (1990) (46)
- Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. (2012) (45)
- Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements. (2001) (44)
- Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia (2006) (43)
- Linkage and association to candidate regions in Swedish atopic dermatitis families (2001) (43)
- The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells. (2010) (42)
- Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability (2011) (41)
- Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4‐1BB‐L implicated in cell survival (2006) (41)
- Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5. (1998) (41)
- Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols (2013) (38)
- Prostaglandin synthetase-catalyzed activation of phenacetin metabolites to genotoxic products. (1982) (38)
- Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity (2009) (38)
- Syntaxin‐11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG‐opsonized target cells (2008) (37)
- High‐resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting (2011) (37)
- The Molecular Genetics of Meningiomas (1990) (36)
- 1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization (1997) (36)
- Low plasma levels of the protein pro‐LL‐37 as an early indication of severe disease in patients with chronic neutropenia (2007) (35)
- Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance (2015) (35)
- Cell‐free tumour DNA testing for early detection of cancer – a potential future tool (2019) (35)
- Preimplantation genetic diagnosis of DiGeorge syndrome. (1998) (35)
- CTNND2—a candidate gene for reading problems and mild intellectual disability (2014) (34)
- Clonal Genomic Alterations in Glioma Malignancy Stages 1 (2006) (34)
- Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers (1993) (34)
- Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2 (2005) (34)
- Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis. (2004) (33)
- Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD) (2007) (33)
- Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis (2015) (33)
- Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene (1996) (32)
- Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3 (2013) (32)
- Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities (2001) (32)
- Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes. (2004) (31)
- Induction of cell damage by menadione and benzo(a)pyrene-3,6-quinone in cultures of adult rat hepatocytes and human fibroblasts. (1985) (31)
- The performance of CGH array for the detection of cryptic constitutional chromosome imbalances (2004) (30)
- Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles? (2007) (30)
- Studies of DNA-strand breaks induced in human fibroblasts by chemical mutagens/carcinogens (1979) (30)
- The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial (2011) (30)
- Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome (2005) (29)
- Application of single‐needle blastomere biopsy in human preimplantation genetic diagnosis (1998) (29)
- Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations (2015) (28)
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (2019) (28)
- Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women (2016) (28)
- Disruption of tubular Flcn expression as a mouse model for renal tumor induction. (2015) (28)
- Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients (2017) (28)
- Array‐CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G‐banding (2008) (27)
- Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission (2019) (27)
- Smoking and sister chromatid exchange. (1982) (27)
- Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis (2002) (27)
- A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size (2004) (27)
- The tight junction gene Claudin‐1 is associated with atopic dermatitis among Ethiopians (2016) (26)
- Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles (2005) (26)
- Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations. (2015) (26)
- A map of 22 loci on human chromosome 22. (1991) (26)
- Analysis of association and linkage for the interleukin‐4 and interleukin‐4 receptor balpha; regions in Swedish atopic dermatitis families (2002) (26)
- Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines. (2006) (26)
- Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. (1994) (25)
- Differences in the repair of DNA strand breaks induced by 9-hydroxy-benzo(a)pyrene and trans-7,8-dihydro-7,8-dihydroxy-benzo(a)pyrene in cultured human fibroblasts. (1978) (25)
- Multiple endocrine neoplasia type 1. (2000) (25)
- The effect of gossypol on the frequency of DNA-strand breaks in human leukocytes in vitro. (1986) (24)
- Characterization of the murine VEGF-related factor gene. (1996) (24)
- Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis. (2015) (24)
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (24)
- First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations (2010) (23)
- An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. (2009) (23)
- Multiple endocrine neoplasia. (1990) (23)
- Gossypol induces DNA strand breaks in human fibroblasts and sister chromatid exchanges in human lymphocytes in vitro. (1984) (23)
- Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene. (2003) (23)
- Phosphoinositide 3-kinase regulates a subset of interferon-alpha-stimulated genes. (2007) (22)
- Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype (2001) (22)
- Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases (2014) (22)
- An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2 (2013) (21)
- Characterization of EGFR and ErbB2 expression in atopic dermatitis patients (2012) (21)
- Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype (2015) (21)
- X‐linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments (2012) (21)
- Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. (1993) (21)
- Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution (1998) (21)
- Prenatal diagnosis: molecular genetics and cytogenetics. (2002) (21)
- Exclusion of FAU as the multiple endocrine neoplasia type 1 (MEN1) gene. (1993) (21)
- Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping (2001) (20)
- Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability (2018) (20)
- Genetics and the etiology of solid tumors. (1988) (20)
- Reactive products formed by peroxidase catalyzed oxidation of p-phenetidine. (1984) (20)
- Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida. (2007) (20)
- Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies. (2014) (19)
- HAX-1 expression in human B lymphoma (2011) (19)
- Hemizygosity for chromosome 2q14.2‐q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities (2006) (19)
- Strand-break formation in DNA modified by benzo[alpha]pyrene diolepoxide. Quantitative cleavage by Escherichia coli uvrABC endonuclease. (1983) (19)
- A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking (2017) (19)
- Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3). (1995) (18)
- Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb (2005) (18)
- Linkage analysis with markers on 17q in 29 Swedish breast cancer families. (1993) (18)
- Studies on the in vitro transfer of DNA binding benzo[a]pyrene metabolites from rat hepatocytes to human fibroblasts. (1981) (18)
- Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches (2008) (18)
- Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas (1997) (18)
- A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation (2018) (18)
- Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities (2009) (18)
- Assignment of the human FAU gene to a subregion of chromosome 11q13. (1993) (18)
- Analysis of microsatellite repeats in pediatric brain tumors. (1995) (18)
- Tumor suppressor genes (TSG). (1999) (17)
- One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre. (2012) (17)
- Genome‐wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population (2006) (17)
- The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis. (2001) (17)
- Complete characterization of a large marker chromosome by reverse and forward chromosome painting (1992) (17)
- Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth (2019) (16)
- Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy (2016) (16)
- A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families. (1999) (16)
- Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO‐ALL 2000 protocol (2011) (15)
- Prostaglandin synthase-catalyzed metabolic of some aromatic amines to genotoxic products (1984) (15)
- Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1. (1994) (15)
- Characterization of drug-resistant cell lines by comparative genomic hybridization. (1999) (14)
- Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. (2007) (14)
- Screening for copy number alterations in loci associated with autism spectrum disorders by two‐color multiplex ligation‐dependent probe amplification (2009) (14)
- Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population (2006) (14)
- Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers. (1994) (14)
- Finnish mutations in Swedish HNPCC families (1995) (14)
- Lack of association between filaggrin gene mutations and onset of psoriasis in childhood (2013) (14)
- Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. (2011) (14)
- Subtelomeric rearrangements detected by FISH in patients with idiopatic mental retardation (1999) (13)
- Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13. (1996) (13)
- Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia (2016) (13)
- Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis (2012) (12)
- Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas (1993) (11)
- Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb. (2005) (11)
- Exclusion of the phosphoinositide-specific phospholipase Cβ3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1 (1996) (11)
- Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus (1992) (11)
- High expression of the EGFR in fibroadenomas compared to breast carcinomas. (1994) (11)
- Characterization of add(I)(p36) in non‐hodgkin lymphomas by fluorescence in situ hybridization (1995) (11)
- Sublocalization of a locus at 3p21.3–23 predisposing to hereditary nonpolyposis colon cancer (1994) (11)
- Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease ( EDS-VIII ) Is a Distinct , Heterogeneous Disorder with One Predisposition Gene at Chromosome 12 p 13 (2007) (10)
- Morphology, DNA ploidy and allele losses on chromosome 11 in sporadic hyperparathyroidism and that associated with multiple neoplasia, type 1. (1992) (10)
- Early prenatal diagnosis of the ICF syndrome (2000) (10)
- A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes. (1997) (10)
- Candidate genes for multiple endocrine neoplasia type 1 (1995) (10)
- The biology of inherited cancer. (2000) (10)
- Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis (2017) (10)
- High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing (2018) (10)
- Chromatin Interactions in Differentiating Keratinocytes Reveal Novel Atopic Dermatitis and Psoriasis-Associated Genes. (2020) (10)
- The identification of bases in DNA involved in covalent binding of the reactive metabolite from 9-hydroxybenzo[a]pyrene. (1984) (9)
- Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden (2016) (9)
- Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients (2021) (9)
- Expression of the phosphoinositide‐specific phospholipase Cβ3 gene in the rat (1995) (9)
- SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED) (2015) (9)
- Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the “critical segment” towards the telomere (1991) (9)
- Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia (2015) (9)
- A normal male with an inherited deletion of one exon within the DMD gene (2004) (8)
- Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course (2014) (8)
- Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)‐positive B‐cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation (2012) (8)
- Effects of ultraviolet light and cyclophosphamide on replication and repair synthesis of DNA in isolated rat liver cells and human leukocytes co-incubated with microsomes. (2009) (8)
- Allele losses in malignant melanoma reflect random events. (1990) (8)
- Family Screening in Multiple Endocrine Type 1 (MEN 1) Neoplasia (1994) (8)
- Hereditary breast cancer in sweden: a predominance of maternally inherited cases (2005) (8)
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 (2018) (8)
- Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter (1990) (7)
- A constitutional mutation within the retinoblastoma gene detected by PFGE (1994) (7)
- Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis (2008) (7)
- Induction and repair of DNA strand breaks in cultured human fibroblasts exposed to various phenols and dihydrodiols of benzo[a]pyrene. (1982) (7)
- INDUCTION OF DNA‐STRAND BREAKS IN CULTURED HUMAN FIBROBLASTS BY REACTIVE METABOLITES (1983) (7)
- Kostmann disease and other forms of severe congenital neutropenia (2021) (6)
- Are BIC (miR-155) polymorphisms associated with eczema susceptibility? (2013) (6)
- Haploinsufficiency of UNC13D increases the risk of lymphoma (2019) (6)
- Germline mutations detected in the von Hippel‐Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing (1998) (6)
- Exclusion of the 13-kDa rapamycin binding protein gene (FKBP2) as a candidate gene for multiple endocrine neoplasia type 1 (1995) (6)
- Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization (2014) (6)
- Characterization of Stem-Like Cells in Mucoepidermoid Tracheal Paediatric Tumor (2014) (5)
- Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer. (2022) (5)
- Multiple endocrine neoplasia 1 (1995) (5)
- An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation (2021) (5)
- Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (5)
- Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 (2019) (5)
- Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu (2016) (4)
- Family screening in multiple endocrine neoplasia type 1 (MEN 1). (1994) (4)
- Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells (2020) (4)
- Sequence and Expression of the Mouse Homologue to Human Phospholipase C β3 Neighboring Gene (1996) (4)
- 4th Pediatric Allergy and Asthma Meeting (PAAM) (2016) (4)
- Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia (2020) (4)
- Molecular Cytogenetic Approach to the Diagnosis of Splenic Lymphoma: A Case Report of Blastoid Mantle Cell Lymphoma (2003) (4)
- Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH. (2000) (4)
- Practical guidelines for DNA-based testing in multiple endocrine neoplasia type 1. (1992) (4)
- A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population (2022) (3)
- Constitutional deletions predisposing to retinoblastoma (1990) (3)
- Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3) (2005) (3)
- Characterization of add(1)(p36) in non-Hodgkin lymphomas by fluorescence in situ hybridization. (1995) (3)
- Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus (1993) (3)
- Recessive cancer genes and chromosomal mechanisms in tumorigenesis. (1986) (3)
- Duplication of 2q41-qter as a sole aberration in a case of non-Hodgkin's lymphoma (1996) (3)
- Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22–p21 tumour-suppressor region by two-colour fluorescencein situ hybridization (1996) (3)
- Survivin expression in the bone marrow of patients with severe congenital neutropenia (2009) (3)
- [Congenital abnormalities require life-long follow up]. (2010) (3)
- Multiple inherited sequence variations in two disease‐causing genes in familial haemophagocytic lymphohistiocytosis (2009) (3)
- Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. (2002) (3)
- [Hereditary thyroid cancer can be cured by prophylactic surgery]. (2001) (3)
- Recessive mutations in the oncogenesis of certain solid tumors. (1990) (2)
- Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome (1994) (2)
- Hereditary cancer. (1999) (2)
- Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high‐dose G‐CSF therapy (2009) (2)
- Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis. (2019) (2)
- O-12. Single-cell comparative genomic hybridization analysis of human preimplantation embryos from patients with balanced structural chromosome aberrations undergoing PGD (2002) (2)
- Proteasome Inhibitor Bortezomib Disrupts Tumor Necrosis Factor-Related Apoptosis-Inducing ligand (TRAIL) Expression and Natural Killer (NK) Cell Killing of TRAIL Receptor-Positive Multiple Myeloma Cells (2010) (2)
- Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism (2016) (2)
- Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma. (1996) (2)
- Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease (2020) (2)
- Prostaglandin synthase-catalyzed metabolic activation of some aromatic amines to genotoxic products. (1984) (2)
- Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families (1991) (2)
- Studies of DNA-strand induced in human fibroblasts by chemical mutagens/carcinogens. (1979) (1)
- Identification, characterisation and clinical applications of cosmids from the telomeric and centromeric regions of the long arm of chromosome 22 (1994) (1)
- Inherited recurrent corneal erosions – a large family with an autosomal dominant inherited disorder (2004) (1)
- Ordered Phosphorylation Governs Oscillation of a Three-Protein Circadian Clock (2007) (1)
- Homozygosity at the dopamine D 3 receptor locus is not associated with schizophrenia (2004) (1)
- Advances in multiple endocrine neoplasia type 2 (1995) (1)
- Interphase fluorescent in situ hybridization deletion analysis of the 9 p 21 region and prognosis in childhood acute lymphoblastic leukaemia ( ALL ) : results from a prospective analysis of 519 Nordic patients (2011) (1)
- Advances in Brief Molecular Characterization of Human Telomerase Reverse Transcriptase-immortalized Human Fibroblasts by Gene Expression Profiling : Activation of the Epiregulin Gene 1 , 2 (2003) (1)
- From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics (2019) (1)
- Characterization of neuropeptide Y in pediatric neural crest tumors: relation to tumor malignancy and genetic findings. (1991) (1)
- A novel growth factor and a genetic sequence coding for these (1996) (0)
- Contents Vol. 91, 2010 (2010) (0)
- [QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice]. (2007) (0)
- [Multiple endocrine neoplasia type 2 A: identification of the gene simplifies screening]. (1994) (0)
- The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language (2012) (0)
- [The gene of spinal muscular atrophy localized. Possibilities for prenatal diagnosis]. (1993) (0)
- [Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis]. (1997) (0)
- Genetic studies in Swedish patients with spina bifida (2006) (0)
- Front Cover (2018) (0)
- Prostaglandin-synthase-catalysed metabolic activation of urinary tract carcinogens to DNA-damaging products (1984) (0)
- Subject Index Vol. 91, 2010 (2010) (0)
- Spina bifida: From chromosomal abnormality to candidate gene. (2006) (0)
- [Families with hereditary cancer--a target group for prevention]. (1990) (0)
- The effect of smoking on the frequency of sister-chromatid exchange in human lymphocytes (1983) (0)
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 (2018) (0)
- P1: Detailed molecular characterization of a Swedish cohort of Cornelia de Lange syndrome patients (2005) (0)
- Homozygous deletions of CDKN 2 (2012) (0)
- Studies of keratinocyte-specific regulatory interactions by three-dimensional mapping with a focus on atopic dermatitis (2018) (0)
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability (2019) (0)
- Sequence and expression of the mouse homologue to human phospholipase C beta3 neighboring gene. (1996) (0)
- Novel Focal Gene Deletions in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia Detected By Array Comparative Genomic Hybridization (2014) (0)
- Erratum: Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome (Proceedings of the National Academy of Sciences of the United States of America (2009) 13:2 (468-473)) (2009) (0)
- [Identification of cancer genes has made the testing of predisposition possible. Genetic counseling and mutation screening can result in new therapeutic methods]. (1999) (0)
- [The genome project in its final phase: It will soon be possible to explain many of the brain diseases]. (2000) (0)
- [New analytic methods provide answers regarding chromosome aberrations in 1-2 days]. (2002) (0)
- [Familial adenomatous polyposis. The gene of the disease was recently isolated--the pathogenesis of colonic cancer can be explained]. (1992) (0)
- Identification of twelve new RFLP-markers on chromosome 22q11-qter (1991) (0)
- [Reversed genetics--isolation of disease genes by a round about way]. (1988) (0)
- SYNTAXIN-11 ACTS AS A NEGATIVE REGULATOR OF MACROPHAGE-MEDIATED PHAGOCYTOSIS (2009) (0)
- [Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis]. (2010) (0)
- Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta. (2023) (0)
- Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma (2023) (0)
- Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis (2015) (0)
- Gene expression profiling of mantle cell lymphonas (2003) (0)
- Gain-of-function mutation of microRNA-140 in human skeletal dysplasia (2019) (0)
- [Paternity determination and the analysis of twins--genetic technics give new possibilities]. (1986) (0)
- [Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax]. (2011) (0)
- [Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia]. (2006) (0)
- Nya analysmetoder ger svar om kromosomavvikelser efter 1-2 dagar (2002) (0)
- [Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law]. (1996) (0)
- [Carrier diagnosis of retinoblastoma with molecular genetic methods]. (1984) (0)
- Inactivation of BHD in Sporadic Renal Tumors 1 (2003) (0)
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (2017) (0)
- Mapping of the gene for multiple endocrine neoplasia type I to chromosome 11q13. (1989) (0)
- Screening for gene dose imbalances of autism candidate genes in patients with autism spectrum disorders (ASD) using two-color MLPA (2007) (0)
- Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study (2022) (0)
- Prostaglandin synthase catalyzed activation of paracetamol and p-phenetidine (1983) (0)
- Predisposition forBreast CancerinCarriers ofConstitutional Translocation IIq;22q (1994) (0)
- Loss of heterozygosity on chromosome 22 in primary tumour material from meningioma (1987) (0)
- Recurrent corneal erosions – studies of an autosomal dominant inherited corneal dystrophy (2004) (0)
- Evidence for genetic aberrations of chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2 (2005) (0)
- Homozygous deletions of CDKN 2 A are present in all dic (2012) (0)
- Contents Vol. 36, 2014 (2014) (0)
- [Marfan syndrome. An old syndrome in a new light]. (1994) (0)
- Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer (2023) (0)
- Molecular Genetic Study of the Frequency of Monosomy 22q I I in DiGeorge Syndrome (2006) (0)
- Gemline Mutations Detected in the von HippeLLindau Disease Tumor Gene by Southern Blot and Direct A Sequencing (1998) (0)
- Cytotoxicity of menadione and benzo a pyrene 3 6 quinone in cultured human fibroblasts (1985) (0)
- The new growth factor and its encoding gene sequence (1997) (0)
- Gene Deletions in Human Glial Tumors β Interferon and α Chromosome 9 Deletion Mapping Reveals Interferon Updated (2006) (0)
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (0)
- Characterization of Chromosomal Changes in 17 Children with Acute Lymphoblastic Leukemia and Hyperdiploidy Using Spectral Karyotyping (SKY) (1999) (0)
- New growth factor and gene sequence encoding it. (1996) (0)
- Localization and ordering of the human 3PK gene and five other human chromosome 3 markers. Attempt to establish the borders of the nonrandomly eliminated putative chromosome 3 tumor suppressor regions in mouse-human microcell hybrid derived SCID tumors (1996) (0)
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What Schools Are Affiliated With Magnus Nordenskjöld?
Magnus Nordenskjöld is affiliated with the following schools:
