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Lista de obras de Arif B. Ekici

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

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

artículo científico publicado en 2014

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

artículo científico publicado en 2011

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

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 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome

artículo científico publicado en 2008

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

artículo científico publicado en 2017

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

scientific article published on 11 December 2018

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

artículo científico publicado en 2011

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

artículo científico publicado en 2015

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay

artículo científico publicado en 2008

A defect of CD16-positive monocytes can occur without disease

artículo científico publicado en 2012

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

artículo científico publicado en 2009

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

artículo científico publicado en 2010

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

artículo científico publicado en 2013

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 new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

artículo científico publicado en 2003

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

artículo científico publicado en 2014

ABCA transporter gene expression and poor outcome in epithelial ovarian cancer

artículo científico publicado en 2014

ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas

scientific article published on August 2013

Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease

artículo científico

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

artículo científico publicado en 2011

Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome

artículo científico publicado en 2013

Assay of transfection rate in insect cells on a single cell level

scientific article published on 01 January 1998

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

artículo científico publicado en 2010

Assessment of hepatocyte growth factor in ovarian cancer mortality

artículo científico publicado en 2011

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

artículo científico publicado en 2015

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

artículo científico publicado en 2010

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

Association of relative telomere length with cardiovascular disease in a large chronic kidney disease cohort: the GCKD study

artículo científico publicado en 2015

Associations between genetic risk variants for kidney diseases and kidney disease etiology.

artículo científico publicado en 2017

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2011

Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process

artículo científico publicado en 2022

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients

article by Marius Wunderle et al published 3 May 2018 in Breast Cancer Research and Treatment

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

artículo científico publicado en 2013

Blunted transcriptional response to skeletal muscle ischemia in rats with chronic kidney disease: potential role for impaired ischemia-induced angiogenesis

artículo científico publicado en 2017

Body mass index and breast cancer survival: a Mendelian randomization analysis

artículo científico publicado en 2017

Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis

artículo científico publicado en 2013

Breast Cancer Risk - Genes, Environment and Clinics

artículo científico publicado en 2011

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

artículo científico publicado en 2012

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

artículo científico publicado en 2009

CRISPR/Cas9-Mediated Knock-Out of KrasG12D Mutated Pancreatic Cancer Cell Lines

artículo científico publicado en 2019

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

artículo científico publicado en 2015

CYP2B6*6 is associated with increased breast cancer risk

artículo científico publicado en 2013

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

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.

artículo científico publicado en 2009

Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

artículo científico publicado en 2018

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

artículo científico publicado en 2015

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

artículo científico publicado en 2018

Clinical and morphological phenotype of HMSN 1A mosaicism

scientific article published on 01 January 1997

Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity

artículo científico publicado en 2017

Cohen syndrome diagnosis using whole genome arrays

artículo científico publicado en 2010

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

artículo científico publicado en 2020

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

artículo científico publicado en 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

artículo científico publicado en 2015

Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer

artículo científico publicado en 2011

Common breast cancer susceptibility loci are associated with triple-negative breast cancer

artículo científico publicado en 2011

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2014

Common variants at 19p13 are associated with susceptibility to ovarian cancer

artículo científico publicado en 2010

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

scientific journal article

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

artículo científico publicado en 2015

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

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

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

artículo científico publicado en 2014

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

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

artículo científico publicado en 2020

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

scientific journal article

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

artículo científico publicado en 2005

Disease burden and risk profile in referred patients with moderate chronic kidney disease: composition of the German Chronic Kidney Disease (GCKD) cohort

article

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

artículo científico publicado en 2011

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

artículo científico publicado en 2010

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

artículo científico publicado en 2022

Do telomeres have a higher plasticity than thought? Results from the German Chronic Kidney Disease (GCKD) study as a high-risk population.

artículo científico publicado en 2015

Endometriosis as a risk factor for ovarian or endometrial cancer - results of a hospital-based case-control study

artículo científico publicado en 2015

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

artículo científico publicado en 2013

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

artículo científico publicado en 2015

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

scholarly article published in Nature Genetics

Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium

artículo científico publicado en 2011

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

artículo científico publicado en 2014

Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia

artículo científico publicado en 2011

Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

artículo científico publicado en 2013

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

artículo científico publicado en 2014

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

scientific article published on 26 February 2019

Exome Pool-Seq in neurodevelopmental disorders.

artículo científico publicado en 2017

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

artículo científico publicado en 2011

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

artículo científico publicado en 2014

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum

artículo científico publicado en 2011

FcgammaRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

artículo científico publicado en 2009

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

artículo científico publicado en 2021

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

artículo científico publicado en 2013

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

artículo científico publicado en 2010

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

artículo científico publicado en 2013

Gene polymorphisms leading to calcified and stenotic aortic valves

artículo científico publicado en 2006

Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study

artículo científico publicado en 2017

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 analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

artículo científico publicado en 2021

Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster

artículo científico publicado en 2020

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 in situ and invasive lobular carcinoma of the breast

artículo científico publicado en 2014

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

artículo científico publicado en 2010

Genetic risk factors for ovarian cancer and their role for endometriosis risk.

artículo científico publicado en 2017

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies

artículo científico publicado en 2016

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

artículo científico publicado en 2017

Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans

scientific article published on 20 January 2020

Genetic variants in VEGF pathway genes in neoadjuvant breast cancer patients receiving bevacizumab: Results from the randomized phase III GeparQuinto study

artículo científico publicado en 2015

Genetic variants in the glucocorticoid pathway genes and birth weight

artículo científico publicado en 2020

Genetic variants in the tryptophan hydroxylase 2 gene (TPH2) and depression during and after pregnancy

artículo científico publicado en 2012

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

Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease

artículo científico publicado en 2018

Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms

artículo científico publicado en 2018

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

artículo científico publicado en 2016

Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

artículo científico publicado en 2015

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

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 identifies a common variant associated with risk of endometrial cancer

artículo científico publicado en 2011

Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23

scholarly article by Jeanette Erdmann et al published 18 November 2010 in European Heart Journal

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

artículo científico publicado en 2013

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

artículo científico publicado en 2010

Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype

Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer

artículo científico publicado en 2016

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

artículo científico publicado en 2021

HER2 and TOP2A amplification in a hospital-based cohort of breast cancer patients: associations with patient and tumor characteristics

artículo científico publicado en 2014

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

artículo científico publicado en 2014

HLA-G and HLA-F protein isoform expression in breast cancer patients receiving neoadjuvant treatment

scientific article published on 25 September 2020

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina

artículo científico publicado en 2013

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

artículo científico publicado en 2012

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

Heterologous expression of wildtype and mutant myocilin in High Five insect cells shows comparable effects to cultivated trabecular meshwork cells

artículo científico publicado en 2007

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

artículo científico publicado en 2017

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

artículo científico publicado en 2011

Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

artículo científico publicado en 2013

Identification of nine new susceptibility loci for endometrial cancer

artículo científico publicado en 2018

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

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

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

artículo científico publicado en 2009

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

article

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

artículo científico publicado en 2014

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

artículo científico publicado en 2015

Inhibiting Interleukin 36 Receptor Signaling Reduces Fibrosis in Mice With Chronic Intestinal Inflammation

artículo científico publicado en 2018

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

artículo científico publicado en 2018

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

artículo científico publicado en 2014

Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Loss of MTUS1/ATIP expression is associated with adverse outcome in advanced bladder carcinomas: data from a retrospective study

artículo científico publicado en 2014

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2011

Lymphocyte Immune Response and T Cell Differentiation in Fontan Patients with protein-losing enteropathy

artículo científico publicado en 2021

Macrophage Phosphoproteome Analysis Reveals MINCLE-dependent and -independent Mycobacterial Cord Factor Signaling

artículo científico publicado en 2019

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

artículo científico publicado en 2020

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 profiles classify papillary renal cell carcinoma subtypes

artículo científico publicado en 2013

MicroRNA profiles of prostate carcinoma detected by multiplatform microRNA screening

artículo científico publicado en 2011

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Molecular differentiation between osteophytic and articular cartilage--clues for a transient and permanent chondrocyte phenotype

artículo científico publicado en 2011

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

artículo científico publicado en 1996

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

artículo científico publicado en 2013

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

artículo científico publicado en 2010

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

artículo científico publicado en 2018

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

NDST1 missense mutations in autosomal recessive intellectual disability

artículo científico publicado en 2014

NEK1 mutations cause short-rib polydactyly syndrome type majewski

artículo científico publicado en 2011

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

artículo científico publicado en 2018

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases

artículo científico publicado en 2015

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

artículo científico publicado en 2016

PEDF Is Associated with the Termination of Chondrocyte Phenotype and Catabolism of Cartilage Tissue.

artículo científico publicado en 2017

Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis

artículo científico publicado en 2016

Patients with unstable angina pectoris show an increased frequency of the Fc gamma RIIa R131 allele

artículo científico publicado en 2012

Percent Mammographic Density and Dense Area as Risk Factors for Breast Cancer

artículo científico publicado en 2012

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

artículo científico publicado en 2002

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

artículo científico publicado en 2019

Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Polymorphisms in estrogen metabolism and estrogen pathway genes and the risk of miscarriage

artículo científico publicado en 2009

Polymorphisms in inflammation pathway genes and endometrial cancer risk

artículo científico publicado en 2012

Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients

artículo científico publicado en 2014

Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single Nucleotide Polymorphisms for Breast Cancer Risk and Several Variable Selection Methods

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review

artículo científico

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

artículo científico publicado en 2021

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

artículo científico publicado en 2018

RNA sequencing reveals induction of specific renal inflammatory pathways in a rat model of malignant hypertension

artículo científico publicado en 2021

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rare copy number variants are a common cause of short stature

artículo científico publicado en 2013

Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: Emergence of new molecular targets ⬇️

artículo científico publicado el 1 de octubre de 2012

Reduced syncytin-1 expression levels in placental syndromes correlates with epigenetic hypermethylation of the ERVW-1 promoter region

artículo científico publicado en 2013

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

Regional localization of rat myelin protein zero Mpz gene to chromosome 13q24-25 by means of FISH

scientific article published on 01 November 1995

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

artículo científico publicado en 2014

Rhinovirus inhibits IL-17A and the downstream immune responses in allergic asthma

artículo científico publicado en 2016

Rho-A prenylation and signaling link epithelial homeostasis to intestinal inflammation

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10

artículo científico publicado en 2013

Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

artículo científico publicado en 2018

Saliva samples as a source of DNA for high throughput genotyping: an acceptable and sufficient means in improvement of risk estimation throughout mammographic diagnostics.

artículo científico publicado en 2018

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

artículo científico publicado en 2005

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

artículo científico publicado en 2018

Single-cell RNA sequencing of adult mouse testes

scientific article published on 11 September 2018

Specific phenotype and function of CD56-expressing innate immune cell subsets in human thymus

artículo científico publicado en 2016

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

artículo científico publicado en 2015

TRIM28 haploinsufficiency predisposes to Wilms tumor

scientific article published on 14 February 2019

The 5-HTTLPR polymorphism modulates the influence on environmental stressors on peripartum depression symptoms

artículo científico publicado en 2011

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

scientific article published on 01 November 2019

The German Chronic Kidney Disease (GCKD) study: design and methods

artículo científico publicado en 2011

The Transient Chondrocyte Phenotype in Human Osteophytic Cartilage: A Role of Pigment Epithelium-Derived Factor?

artículo científico publicado en 2013

The UGT1A6_19_GG genotype is a breast cancer risk factor

artículo científico publicado en 2013

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant

article

The proinflammatory effect of C-reactive protein on human endothelial cells depends on the FcγRIIa genotype

artículo científico publicado en 2013

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

artículo científico publicado en 2011

The role of genetic breast cancer susceptibility variants as prognostic factors

artículo científico publicado en 2012

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

artículo científico publicado en 2002

Transcriptome sequencing reveals maelstrom as a novel target gene of the terminal system in the red flour beetle Tribolium castaneum

artículo científico publicado en 2017

Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy

artículo científico publicado en 2010

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

artículo científico publicado en 2018

Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer

artículo científico publicado en 2014

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma

artículo científico publicado en 2015

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

artículo científico publicado en 2018

α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy

artículo científico publicado en 2016

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