about
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeCharacterization of extracellular circulating microRNAGenome-wide association studies identify four ER negative-specific breast cancer risk lociTP53-binding protein variants and breast cancer risk: a case-control studyMuscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesARLTS1 variants and melanoma riskAssociations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancerLarge-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repairCandidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer riskGenome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer TypesPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSCapture and Amplification by Tailing and Switching (CATS). An ultrasensitive ligation-independent method for generation of DNA libraries for deep sequencing from picogram amounts of DNA and RNALarge-scale genotyping identifies 41 new loci associated with breast cancer risk.Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European DescentExtracellular miRNA: A Collision of Two Paradigms.No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study.Allelotyping of pooled DNA with 250 K SNP microarrays.BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study.A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.Targeting Id1 and Id3 by a specific peptide aptamer induces E-box promoter activity, cell cycle arrest, and apoptosis in breast cancer cells.Nuclear receptor coregulator SNP discovery and impact on breast cancer riskTobacco-smoking-related differential DNA methylation: 27K discovery and replicationCopy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk.Pancreatic cancer susceptibility loci and their role in survival.Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease.Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancerSevere phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.Smoking, F2RL3 methylation, and prognosis in stable coronary heart disease.Circulating miRNAs as surrogate markers for circulating tumor cells and prognostic markers in metastatic breast cancer.Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2SNP genotyping on a genome-wide amplified DOP-PCR templateGenetic variation in mitotic regulatory pathway genes is associated with breast tumor gradeCommon non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association ConsortiumSerial enumeration of circulating tumor cells predicts treatment response and prognosis in metastatic breast cancer: a prospective study in 393 patients.MicroRNA related polymorphisms and breast cancer risk.
P50
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
@nl
Barbara Burwinkel
@sl
type
label
Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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Barbara Burwinkel
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prefLabel
Barbara Burwinkel
@ast
Barbara Burwinkel
@en
Barbara Burwinkel
@es
Barbara Burwinkel
@fr
Barbara Burwinkel
@nl
Barbara Burwinkel
@sl