Published in Fertil Steril on August 24, 2010
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One (2011) 1.75
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol (2014) 1.09
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy. BMC Nephrol (2012) 1.02
Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. BMC Genomics (2014) 0.99
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol (2013) 0.98
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis (2013) 0.98
Are copy number variants associated with adolescent idiopathic scoliosis? Clin Orthop Relat Res (2014) 0.97
Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol (2013) 0.90
A rare association of schizophrenia and Mayer-Rokitansky-Küster-Hauser syndrome. Indian J Psychiatry (2015) 0.86
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. Orphanet J Rare Dis (2011) 0.82
Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy. J Genet Syndr Gene Ther (2013) 0.82
Gene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways. PLoS One (2014) 0.82
Molecular genetics of Müllerian duct formation, regression and differentiation. Sex Dev (2014) 0.81
Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome. Eur J Hum Genet (2011) 0.78
Evaluation of SHOX copy number variations in patients with Müllerian aplasia. Orphanet J Rare Dis (2011) 0.77
A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies. Fertil Steril (2014) 0.75
The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. Biomed Res Int (2016) 0.75
Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina. Oncotarget (2017) 0.75
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis. Case Rep Genet (2013) 0.75
Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han. PLoS One (2015) 0.75
A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis. J Clin Diagn Res (2016) 0.75
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. JAMA (2009) 5.05
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. Nat Genet (2010) 4.96
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Hysterectomy-a comparison of approaches. Dtsch Arztebl Int (2010) 2.77
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res (2011) 2.09
Socioeconomic status and depression during and after pregnancy in the Franconian Maternal Health Evaluation Studies (FRAMES). Arch Gynecol Obstet (2013) 2.06
Effect of anastrozole on bone mineral density: 5-year results from the anastrozole, tamoxifen, alone or in combination trial 18233230. J Clin Oncol (2008) 1.99
Safety and efficacy of tibolone in breast-cancer patients with vasomotor symptoms: a double-blind, randomised, non-inferiority trial. Lancet Oncol (2009) 1.90
Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet (2011) 1.84
Ki67, chemotherapy response, and prognosis in breast cancer patients receiving neoadjuvant treatment. BMC Cancer (2011) 1.83
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78
Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab (2013) 1.76
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One (2011) 1.75
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun (2013) 1.73
Circulating micro-RNAs as potential blood-based markers for early stage breast cancer detection. PLoS One (2012) 1.67
Hereditary breast and ovarian cancer: review and future perspectives. J Mol Med (Berl) (2005) 1.67
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res (2011) 1.65
ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas. Gynecol Oncol (2013) 1.61
Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod (2005) 1.59
Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet (2009) 1.58
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. Hum Mol Genet (2011) 1.56
Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet (2013) 1.56
Evaluation of high-sensitivity C-reactive protein in comparison with C-reactive protein as biochemical serum markers in women with endometriosis. Fertil Steril (2009) 1.51
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. Breast Cancer Res (2010) 1.51
Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients. Breast Cancer Res Treat (2007) 1.49
On a dark-field signal generated by micrometer-sized calcifications in phase-contrast mammography. Phys Med Biol (2013) 1.47
The extracorporeal perfusion of the swine uterus as an experimental model: The effect of tocolytic drugs. Eur J Obstet Gynecol Reprod Biol (2005) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet (2013) 1.39
Association of maternal and/or fetal factor V Leiden and G20210A prothrombin mutation with HELLP syndrome and intrauterine growth restriction. Clin Sci (Lond) (2003) 1.39
Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun (2013) 1.36
Live birth after ovarian tissue autotransplantation following overnight transportation before cryopreservation. Fertil Steril (2011) 1.33
Accelerated partial breast irradiation: 5-year results of the German-Austrian multicenter phase II trial using interstitial multicatheter brachytherapy alone after breast-conserving surgery. Int J Radiat Oncol Biol Phys (2010) 1.29
Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev (2009) 1.29
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol (2012) 1.29
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis (2013) 1.28
11q13 is a susceptibility locus for hormone receptor positive breast cancer. Hum Mutat (2012) 1.26
Vascular endothelial growth factor gene polymorphisms are associated with prognosis in ovarian cancer. Clin Cancer Res (2007) 1.26
Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Cancer Epidemiol Biomarkers Prev (2012) 1.26
Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev (2011) 1.23
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet (2009) 1.23
The role of genetic breast cancer susceptibility variants as prognostic factors. Hum Mol Genet (2012) 1.23
Proliferation and cell-cell fusion of endometrial carcinoma are induced by the human endogenous retroviral Syncytin-1 and regulated by TGF-beta. J Mol Med (Berl) (2006) 1.22
Angiogenic growth factors in maternal and fetal serum in pregnancies complicated by intrauterine growth restriction. Clin Sci (Lond) (2007) 1.22
The ubiquitin-like molecule interferon-stimulated gene 15 (ISG15) is a potential prognostic marker in human breast cancer. Breast Cancer Res (2008) 1.21
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat (2008) 1.18
Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. Int J Cancer (2011) 1.17
Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. J Natl Cancer Inst (2010) 1.17
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Genomic DNA breakpoints in AML1/RUNX1 and ETO cluster with topoisomerase II DNA cleavage and DNase I hypersensitive sites in t(8;21) leukemia. Proc Natl Acad Sci U S A (2002) 1.16
Estrogen and progesterone receptors: from molecular structures to clinical targets. Cell Mol Life Sci (2009) 1.16
Ki-67 as a prognostic molecular marker in routine clinical use in breast cancer patients. Breast (2009) 1.15
Diabetes and prognosis in a breast cancer cohort. J Cancer Res Clin Oncol (2010) 1.14
Influence of mammographic density on the diagnostic accuracy of tumor size assessment and association with breast cancer tumor characteristics. Eur J Radiol (2006) 1.14
Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC). PLoS One (2012) 1.13
The VCUAM (Vagina Cervix Uterus Adnex-associated Malformation) classification: a new classification for genital malformations. Fertil Steril (2005) 1.13
Impaired cytotrophoblast cell-cell fusion is associated with reduced Syncytin and increased apoptosis in patients with placental dysfunction. Mol Reprod Dev (2008) 1.12
Invasive Breast Cancer: Recognition of Molecular Subtypes. Breast Care (Basel) (2011) 1.09
Characterizing mammographic images by using generic texture features. Breast Cancer Res (2012) 1.07
Lymphedema in breast cancer survivors: assessment and information provision in a specialized breast unit. Patient Educ Couns (2007) 1.06
Mammographic density as a risk factor for breast cancer in a German case-control study. Eur J Cancer Prev (2011) 1.05
The Hohl instrument for optimizing total laparoscopic hysterectomy procedures. J Minim Invasive Gynecol (2005) 1.03
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol (2008) 1.03
An interleukin-6 gene promoter polymorphism influences the biological phenotype of ovarian cancer. Cancer Res (2003) 1.02
Genome-wide association study identifies a possible susceptibility locus for endometrial cancer. Cancer Epidemiol Biomarkers Prev (2012) 1.02
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. Oncol Rep (2007) 1.01
Characterization of genomic breakpoints in MLL and CBP in leukemia patients with t(11;16). Genes Chromosomes Cancer (2004) 1.00
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet (2007) 1.00
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. Hum Mol Genet (2013) 1.00
Update on ovarian hyperstimulation syndrome: Part 1--Incidence and pathogenesis. Int J Fertil Womens Med (2007) 0.99
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res (2014) 0.99
Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet (2013) 0.99