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Lista de obras de Christopher G. Mathew

A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis

article

A Msel polymorphism in exon 48 of the dystrophin gene

artículo científico publicado el 25 de octubre de 1991

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5

artículo científico publicado en 2007

A common Fanconi anemia mutation in black populations of sub-Saharan Africa

artículo científico publicado en 2005

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

artículo científico publicado en 2004

A comparison of the high mobility group non-histone chromatin protein HMG 2 in chicken thymus and erythrocytes

artículo científico publicado en 1979

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

artículo científico publicado el 1 de mayo de 1991

A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population

artículo científico publicado en 2005

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

artículo científico publicado en 2013

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

artículo científico publicado en 2007

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

artículo científico publicado en 2010

A genome-wide family-based linkage study of coeliac disease

artículo científico publicado en 2000

A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort

artículo científico publicado en 1999

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

artículo científico publicado en 2005

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10

scientific article published in Nature

A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype

artículo científico publicado en 1993

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

artículo científico publicado el 1 de junio de 1993

A novel NcoI polymorphism creates a fifth haplotype in the 3' untranslated region of CKM

artículo científico publicado el 1 de agosto de 1992

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation

artículo científico publicado en 1999

A pedigree-based linkage study of coeliac disease: failure to replicate previous positive findings

scientific article published on 01 January 1998

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

artículo científico publicado en 2016

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci

artículo científico publicado en 1995

A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.

artículo científico publicado en 1995

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

article

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

artículo científico publicado en 1996

Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia.

artículo científico publicado en 2003

Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease

article

Analysis of the contribution of HLA genes to genetic predisposition in inflammatory bowel disease

artículo científico publicado en 1996

Analysis of the high mobility group proteins associated with salt-soluble nucleosomes

artículo científico publicado en 1979

Application of linked DNA markers to screening families with multiple endocrine neoplasia type 2A

scientific article published on 01 April 1990

Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations

artículo científico publicado en 2001

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of DLG5 R30Q variant with inflammatory bowel disease

artículo científico publicado en 2005

Association of a deletion of GSTT2B with an altered risk of oesophageal squamous cell carcinoma in a South African population: a case-control study

artículo científico publicado en 2011

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group

scientific article published on 01 December 2000

Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population.

artículo científico publicado en 2019

Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and Inflammatory Bowel Disease and their effects on disease behavior: A case-control and meta-analysis study

article

Bayesian refinement of association signals for 14 loci in 3 common diseases

artículo científico publicado en 2012

BclI RFLP for the human vimentin gene

artículo científico publicado en 1988

Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

artículo científico publicado en 2003

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

artículo científico publicado en 2006

Cancer incidence in relatives of British Fanconi Anaemia patients

artículo científico publicado en 2008

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR

artículo científico publicado en 1993

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

artículo científico publicado en 1998

Clinical, cytogenetic, and molecular analysis of three families with FRAXE

artículo científico publicado en 1997

Combined Evidence From Three Large British Association Studies Rejects TUCAN/CARD8 as an IBD Susceptibility Gene

article

Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

scientific journal article

Common variants at five new loci associated with early-onset inflammatory bowel disease

artículo científico publicado en 2009

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

artículo científico publicado en 2012

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

artículo científico publicado en 2013

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

artículo científico publicado en 2010

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

article

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A

artículo científico publicado en 2000

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

artículo científico publicado en 1998

Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome

artículo científico publicado en 1993

DNA diagnostics: goals and challenges

artículo científico publicado en 1999

Defective macrophage handling of Escherichia coli in Crohn's disease

artículo científico publicado en 2015

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

artículo científico

Detection of muramyl dipeptide-sensing pathway defects in patients with Crohnʼs disease

artículo científico publicado en 2006

Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy

artículo científico publicado en 1993

Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10

article

Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15.

artículo científico publicado en 2003

Diagnosis of multiple endocrine neoplasms type IIa using DNA analysis

artículo científico publicado el 1 de enero de 1990

Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy

artículo científico publicado en 1993

Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways

artículo científico publicado en 2004

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1

artículo científico publicado en 2003

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway

artículo científico publicado en 2001

Direct or indirect association in a complex disease: the role ofSLC22A4 andSLC22A5 functional variants in Crohn disease

article

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors

artículo científico publicado en 2003

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

artículo científico publicado en 2010

Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population

artículo científico publicado en 2012

Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's disease

artículo científico publicado en 2008

Dystrophin point mutation screening using a multiplexed protein truncation test.

artículo científico publicado en 1997

Early diagnosis of multiple endocrine neoplasia type IIa

EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)

article

Effect of communicating DNA based risk assessments for Crohn's disease on smoking cessation: randomised controlled trial

artículo científico publicado en 2012

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease.

scientific article published on 27 July 2007

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.

artículo científico publicado en 2006

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.

artículo científico publicado en 2001

Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis

artículo científico publicado en 1998

Exclusion of linkage of loci on chromosome 19 with multiple endocrine neoplasia, type 2

artículo científico publicado en 1987

Exome array analysis of adverse reactions to fluoropyrimidine-based therapy for gastrointestinal cancer.

artículo científico publicado en 2018

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis

article

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

artículo científico publicado en 2017

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia

artículo científico publicado en 1993

Fanconi anaemia genes and susceptibility to cancer

artículo científico publicado en 2006

Fanconi anaemia research: current status and prospects

artículo científico publicado en 1995

Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood

artículo científico publicado en 1996

Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease

artículo científico publicado en 2001

Fine-mapping inflammatory bowel disease loci to single-variant resolution

artículo científico publicado en 2017

Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression

artículo científico publicado en 2007

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts.

artículo científico publicado en 2007

Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.

scientific article published on July 2016

Genetic Variation at the Chromosome 16 Chemokine Gene Cluster: Development of a Strategy for Association Studies in Complex Disease

artículo científico publicado en 2003

Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

artículo científico publicado en 1987

Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16.

artículo científico publicado en 1998

Genetic and Inflammatory Biomarkers Classify Small Intestine Inflammation in Asymptomatic First-degree Relatives of Patients With Crohn's Disease

artículo científico publicado en 2019

Genetic association between EPHX1 and Crohn's disease: population stratification, genotyping error, or random chance?

artículo científico publicado en 2004

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

artículo científico publicado en 2008

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

artículo científico publicado el 1 de marzo de 1993

Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease.

artículo científico publicado en 2003

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic variation in DLG5 is associated with inflammatory bowel disease

artículo científico publicado en 2004

Genetic variation in myosin IXB is associated with ulcerative colitis

artículo científico publicado en 2006

Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.

artículo científico publicado en 2003

Genetics of inflammatory bowel disease: progress and prospects

artículo científico publicado en 2004

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4

scientific journal article

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

artículo científico publicado en 2008

Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).

artículo científico publicado en 2010

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

artículo científico publicado en 2012

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

article

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

artículo científico publicado en 2017

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

artículo científico publicado en 2007

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

artículo científico publicado en 2010

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

artículo científico publicado en 2016

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

artículo científico publicado en 2010

HLA and inflammatory bowel disease

scientific article published on 01 July 1996

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

artículo científico publicado en 2003

High frequency of large intragenic deletions in the Fanconi anemia group A gene

artículo científico publicado en 1999

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

artículo científico publicado en 2012

IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

artículo científico publicado en 2007

Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions

artículo científico publicado en 1999

Identification of germline missense mutations and rare allelic variants in theATM gene in early-onset breast cancer

article

Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer

artículo científico publicado en 1998

Identification of the Fanconi anemia complementation group I gene, FANCI.

artículo científico publicado en 2007

Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

artículo científico publicado en 2007

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

article

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

artículo científico publicado en 2010

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

artículo científico publicado en 2011

Interaction of FANCD2 and NBS1 in the DNA damage response

artículo científico publicado en 2002

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

artículo científico publicado en 2008

Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population

artículo científico publicado en 2006

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

article

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

artículo científico publicado en 2000

Johannesburg Cancer Study (JCS): contribution to knowledge and opportunities arising from 20 years of data collection in an African setting

artículo científico publicado en 2020

Lamina propria macrophage phenotypes in relation to Escherichia coli in Crohn's disease.

artículo científico publicado en 2015

Linkage analysis of British and Indian families with Von Recklinghausen neurofibromatosis

artículo científico publicado en 1987

Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I.

artículo científico publicado en 1989

Linkage of inflammatory bowel disease to human chromosome 6p

artículo científico publicado en 1999

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

artículo científico publicado el 1 de junio de 1995

Linked markers flanking the gene for multiple endocrine neoplasia type 2A.

artículo científico publicado en 1989

Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis

artículo científico publicado en 1992

Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions

scientific article published on 01 February 2001

Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history

artículo científico publicado en 2000

Mapping of a susceptibility locus for Crohn's disease on chromosome 16

artículo científico publicado en 1996

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

artículo científico publicado en 2010

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

artículo científico publicado en 2010

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Minisatellite DNA profiles: rapid sample identification in linkage analysis

artículo científico publicado en 1990

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

artículo científico publicado en 2001

Multiple endocrine neoplasia type 2A (MEN 2A) syndrome in a South African family. Biochemistry and molecular genetics

artículo científico publicado el 20 de julio de 1991

Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease

artículo científico publicado en 2005

Mutation analysis at the cystic fibrosis locus in the British population

scientific article published on 01 September 1990

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

artículo científico publicado en 1999

Mutation analysis of the Fanconi anemia gene FACC

artículo científico publicado en 1994

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

artículo científico publicado en 2010

Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

artículo científico publicado en 2006

Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis

artículo científico publicado en 2010

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

New links to the pathogenesis of Crohn disease provided by genome-wide association scans

artículo científico publicado en 2008

Nijmegen breakage syndrome diagnosed as Fanconi anaemia.

artículo científico publicado en 2005

No association of the NFKB1 promoter polymorphism with ulcerative colitis in a British case control cohort.

artículo científico publicado en 2005

Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study

artículo científico publicado en 2019

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

artículo científico publicado en 2008

Novel mutations and polymorphisms in the Fanconi anemia group C gene

artículo científico publicado en 1996

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

artículo científico publicado en 1990

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

artículo científico publicado en 2016

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes

artículo científico publicado en 2015

Population screening for cystic fibrosis

artículo científico publicado en 1992

Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa

artículo científico publicado en 2011

Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.

artículo científico publicado en 1996

Presymptomatic screening for multiple endocrine neoplasia type 2A with linked DNA markers. The MEN 2A International Collaborative Group

artículo científico publicado en 1991

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease.

artículo científico publicado en 2007

Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.

artículo científico publicado en 2004

Quantitative analysis of non-histone chromosomal proteins HMG 14 and HMG 17 by polyacrylamide gel electrophoresis

artículo científico publicado en 1980

Rapid molecular method for prenatal detection of Down's syndrome

artículo científico publicado en 1994

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease

Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping

artículo científico publicado en 1990

Reply

Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer

artículo científico publicado en 1999

SNP subset selection for genetic association studies.

artículo científico publicado en 2003

Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease

artículo científico publicado en 2009

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

artículo científico publicado en 2008

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

artículo científico publicado en 2007

Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors

article

Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31

article

Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6

article

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy

artículo científico publicado en 2001

Smokers with active Crohn's disease have a clinically relevant dysbiosis of the gastrointestinal microbiota.

artículo científico publicado en 2011

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

artículo científico publicado el 1 de mayo de 1997

South African human genes in health and disease--a molecular genetics approach

artículo científico publicado el 28 de abril de 1984

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

artículo científico publicado en 2000

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

article

Stratification by CARD15 variant genotype in a genome-wide search for inflammatory bowel disease susceptibility loci

artículo científico publicado en 2003

Studies on the association of the high mobility group non-histone chromatin proteins with isolated nucleosomes

artículo científico publicado en 1979

Styl RFLP recognised by a human IRBP cDNA localised to chromosome 10.

artículo científico publicado en 1988

Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease

artículo científico publicado en 2005

Systematic association mapping identifies NELL1 as a novel IBD disease gene

artículo científico publicado en 2007

Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2.

artículo científico publicado en 2006

The CEPH consortium primary linkage map of human chromosome 10

artículo científico publicado en 1990

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

article

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

artículo científico publicado en 2000

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

artículo científico publicado en 1999

The Integrity and Yield of Genomic DNA Isolated from Whole Blood Following Long-Term Storage at -30°C.

artículo científico publicado en 2018

The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer

artículo científico publicado en 1999

The Relationship Between Environmental Exposure and Genetic Architecture of the 2q33 Locus With Esophageal Cancer in South Africa

article

The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease

artículo científico publicado en 2002

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

artículo científico publicado en 2014

The genomic organization of the Fanconi anemia group A (FAA) gene

artículo científico publicado en 1997

The high mobility group proteins and transcribed nucleosomes

article

The interferon-gamma gene as a positional and functional candidate gene for inflammatory bowel disease

artículo científico publicado en 1998

The protein composition of rat satellite chromatin

article

Trial Protocol: Communicating DNA-based risk assessments for Crohn's disease: a randomised controlled trial assessing impact upon stopping smoking

artículo científico publicado en 2011

Two new polymorphic markers in the human pro alpha 2(1) collagen gene.

artículo científico publicado en 1985

Uptake of cystic fibrosis testing in primary care: supply push or demand pull?

artículo científico publicado en 1993

Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport

artículo científico publicado en 2003

[The genetics of medullary cancer of the thyroid]

scientific article published on 01 January 1988