Magnus Nordenskjöld

Magnus Nordenskjöld's AcademicInfluence.com Rankings

Magnus Nordenskjöld

Physics

#6422

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#8367

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Physics

Magnus Nordenskjöld's Degrees

PhD Physics Stockholm University
Masters Physics Uppsala University
Bachelors Physics Lund University

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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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