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Lista de obras de Alfons Meindl

11q13 is a susceptibility locus for hormone receptor positive breast cancer

artículo científico publicado en 2012

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

artículo científico publicado en 2012

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

artículo científico publicado en 2011

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

artículo científico publicado en 2012

A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity ⬇️

artículo científico publicado el 23 de junio de 2012

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene

scientific article published on 01 January 1995

A breast cancer risk haplotype in the caspase-8 gene

artículo científico publicado en 2009

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

artículo científico publicado en 1996

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

artículo científico publicado en 1995

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

scientific article published on 18 November 2009

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

artículo científico publicado en 2014

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

artículo científico publicado en 2007

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding

artículo científico publicado en 2011

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

artículo científico publicado en 2020

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

artículo científico publicado en 2000

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

artículo científico publicado en 2012

A novel mutation in the interleukin-2 receptor gamma gene as the cause of lymphopenia in a neonate vertically exposed to human immunodeficiency virus

artículo científico publicado en 2005

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

artículo científico publicado en 1994

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

artículo científico publicado en 2004

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

artículo científico publicado en 2006

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

artículo científico publicado en 2005

A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women

artículo científico publicado en 2008

A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk

artículo científico publicado en 2010

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

artículo científico publicado en 2007

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

artículo científico publicado en 2016

Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry.

artículo científico publicado en 2007

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

artículo científico publicado en 1998

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders

artículo científico publicado en 2002

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

artículo científico publicado en 2016

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

artículo científico publicado en 2012

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

artículo científico publicado en 1993

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

artículo científico publicado en 1995

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

artículo científico publicado en 2019

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

artículo científico publicado en 2012

Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis

artículo científico publicado en 2008

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of death receptor 4 haplotype 626C-683C with an increased breast cancer risk.

artículo científico publicado en 2005

Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers

artículo científico publicado en 2011

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

artículo científico publicado en 2016

Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer

artículo científico publicado en 2005

Association of prolactin and its receptor gene regions with familial breast cancer.

artículo científico publicado en 2006

Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk

artículo científico publicado en 2006

Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant

artículo científico publicado en 2005

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer

artículo científico publicado en 2006

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Aurora kinases A and B and familial breast cancer risk

artículo científico publicado en 2006

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families

scientific article published on 19 October 2011

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

artículo científico publicado en 2007

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

artículo científico publicado en 2018

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

artículo científico publicado en 1997

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

artículo científico publicado en 2012

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Breast cancer susceptibility: current knowledge and implications for genetic counselling

artículo científico publicado en 2008

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

artículo científico publicado en 2013

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

artículo científico publicado en 2015

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

artículo científico publicado en 2015

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

article

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2011

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Comparison of gene expression data from human and mouse breast cancers: identification of a conserved breast tumor gene set.

artículo científico publicado en 2007

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity

scientific article published on 01 February 2001

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

artículo científico publicado en 2002

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

artículo científico publicado en 2015

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

artículo científico publicado en 2011

Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 26 October 2009

Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk

artículo científico publicado en 2007

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

artículo científico publicado en 2019

Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD

artículo científico publicado en 2003

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

scientific article published on 21 April 2020

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

artículo científico publicado en 2016

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

artículo científico publicado en 2009

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

article

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects

artículo científico publicado en 2003

Downregulation of serine protease HTRA1 is associated with poor survival in breast cancer

artículo científico publicado en 2013

Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial

artículo científico publicado en 2016

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)

artículo científico publicado en 1999

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consorti

artículo científico publicado en 2013

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases

artículo científico publicado en 2010

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

artículo científico publicado en 2009

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

artículo científico publicado en 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2010

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

artículo científico publicado en 1992

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas

artículo científico publicado en 1999

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

FRAXE testing.

artículo científico publicado en 1996

Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype

artículo científico publicado en 2002

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

artículo científico publicado en 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

artículo científico publicado en 2016

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

artículo científico publicado en 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

artículo científico publicado en 2020

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

artículo científico publicado en 2014

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

artículo científico publicado en 2016

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

artículo científico publicado en 2015

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

artículo científico publicado en 2013

Five endometrial cancer risk loci identified through genome-wide association analysis

artículo científico publicado en 2016

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

artículo científico publicado en 1999

Full-Length L1CAM and Not Its Δ2Δ27 Splice Variant Promotes Metastasis through Induction of Gelatinase Expression ⬇️

artículo científico publicado el 25 de abril de 2011

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

artículo científico publicado en 2018

Gene-panel sequencing and the prediction of breast-cancer risk

artículo científico publicado en 2015

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

artículo científico publicado en 1992

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

artículo científico publicado en 2016

Genetic background of different cancer cell lines influences the gene set involved in chromosome 8 mediated breast tumor suppression

artículo científico publicado en 2006

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

artículo científico publicado en 2018

Genetic predisposition to ductal carcinoma in situ of the breast

artículo científico publicado en 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk

artículo científico publicado en 2010

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

artículo científico publicado en 2014

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

artículo científico publicado en 2014

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

artículo científico publicado en 2015

Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk

artículo científico publicado en 2007

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

artículo científico publicado en 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Genome-wide association study of germline variants and breast cancer-specific mortality

artículo científico publicado en 2019

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

scientific article published on 29 April 2019

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

artículo científico publicado en 2010

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

artículo científico publicado en 2011

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

artículo científico publicado en 2009

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

artículo científico publicado en 2006

Haplotype analysis in German families with recurrent BRCA1 and BRCA2 mutations

artículo científico publicado en 2001

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

artículo científico publicado en 2019

Hereditary breast and ovarian cancer: new genes, new treatments, new concepts

artículo científico publicado en 2011

High expression of crystallin αB represents an independent molecular marker for unfavourable ovarian cancer patient outcome and impairs TRAIL- and cisplatin-induced apoptosis in human ovarian cancer cells.

artículo científico publicado en 2012

High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer

artículo científico publicado en 2019

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

artículo científico publicado en 1998

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

artículo científico publicado en 2010

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study

artículo científico publicado en 2016

Identification of Novel Susceptibility Genes for Breast Cancer - Genome-Wide Association Studies or Evaluation of Candidate Genes?

artículo científico publicado en 2009

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

artículo científico publicado en 2013

Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity

artículo científico publicado en 2010

Identification of brain- and bone-specific breast cancer metastasis genes

artículo científico publicado en 2008

Identification of clinically relevant gene sets and pathways using functional models of breast tumor suppression.

artículo científico publicado en 2005

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of nine new susceptibility loci for endometrial cancer

artículo científico publicado en 2018

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Immunohistochemical demonstration of the zinc metalloprotease insulin-degrading enzyme in normal and malignant human breast: correlation with tissue insulin levels.

artículo científico publicado en 2007

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer

artículo científico publicado en 2006

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) – Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative C

scientific article published on 26 November 2018

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors o

article published in 2018

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 region

artículo científico publicado en 1994

Isolation of a candidate gene for Norrie disease by positional cloning

artículo científico publicado en 1992

Isolation of a candidate gene for Norrie disease by positional cloning

scientific article published on 01 September 1992

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

artículo científico publicado en 2009

Large Intergenerational Variation in Age of Onset in Two Young Patients With Huntington's Disease Presenting as Dyskinesia ⬇️

artículo científico publicado el 1 de noviembre de 1997

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

artículo científico publicado en 2013

Limited relevance of the CHEK2 gene in hereditary breast cancer

artículo científico publicado en 2004

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval

artículo científico publicado en 1996

Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

artículo científico publicado en 2010

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases

artículo científico publicado en 2008

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene

artículo científico publicado en 1999

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

artículo científico publicado en 2015

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

artículo científico publicado en 1995

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

artículo científico publicado en 2010

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

artículo científico publicado en 1993

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course ⬇️

artículo científico publicado el 1 de febrero de 1998

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

artículo científico publicado en 2000

Mutations in the CACNA1F and NYX genes in British CSNBX families

artículo científico publicado en 2003

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

artículo científico publicado en 1994

Mutations in the candidate gene for Norrie disease

artículo científico publicado en 1992

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

artículo científico publicado en 2009

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

artículo científico publicado en 2008

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

artículo científico publicado en 1992

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

artículo científico publicado en 2004

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

artículo científico publicado en 2009

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

artículo científico publicado en 2020

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

artículo científico publicado en 2017

Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers

artículo científico publicado en 2014

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2011

Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases

scientific article published on 01 September 2004

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

artículo científico publicado en 2002

Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1

artículo científico publicado en 2000

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk

artículo científico publicado en 2009

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

artículo científico publicado en 2015

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer

scientific article published on 01 June 2007

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

artículo científico publicado en 2017

Prediction of breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

article

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer

artículo científico publicado en 2016

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

artículo científico publicado en 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

artículo científico publicado en 2007

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

scientific article published on 20 December 2013

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

artículo científico publicado en 2008

Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection

artículo científico publicado en 2000

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

artículo científico publicado en 2014

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4

artículo científico publicado en 2003

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

artículo científico publicado en 1996

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

artículo científico publicado en 2009

SCA2 trinucleotide expansion in German SCA patients

article published in 1997

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 03 January 2008

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease

artículo científico publicado en 2006

Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers

artículo científico publicado en 2013

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

artículo científico publicado en 2008

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

artículo científico publicado en 2005

Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer

artículo científico publicado en 2005

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study

artículo científico publicado en 2007

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers

artículo científico publicado en 2019

The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer

artículo científico publicado en 2016

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

artículo científico publicado en 2000

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer

artículo científico

The genotype of the original Wiskott phenotype

artículo científico publicado en 2006

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

artículo científico publicado en 2007

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

artículo científico publicado en 2012

The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer

artículo científico publicado en 2006

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

artículo científico publicado en 2002

Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways

artículo científico publicado en 2015

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study

artículo científico publicado en 2006

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2 ⬇️

artículo científico publicado el 1 de septiembre de 1998

Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus

artículo científico publicado en 2005

Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer

artículo científico publicado en 2014

Variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer

artículo científico publicado en 2006

Vitamin D receptor, Retinoid X receptor and peroxisome proliferator-activated receptor γ are overexpressed in BRCA1 mutated breast cancer and predict prognosis

artículo científico publicado en 2017

WASPbase: a database of WAS- and XLT-causing mutations

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

artículo científico publicado en 1996

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

artículo científico publicado en 2007

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1

artículo científico publicado en 2001

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

artículo científico publicado en 2003

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

artículo científico publicado en 2010

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