相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A genome-wide association study of early menopause and the combined impact of identified variants
John R. B. Perry et al.
HUMAN MOLECULAR GENETICS (2013)
Genotypephenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women
Linlin Cui et al.
HUMAN REPRODUCTION (2013)
Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population
J. Sundqvist et al.
HUMAN REPRODUCTION (2013)
Evidence for Chromosome 2p16.3 Polycystic Ovary Syndrome Susceptibility Locus in Affected Women of European Ancestry
Priscilla Mutharasan et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
Luca Pagliardini et al.
JOURNAL OF MEDICAL GENETICS (2013)
Genome-Wide Association Study Link Novel Loci to Endometriosis
Hans M. Albertsen et al.
PLOS ONE (2013)
Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis
P. Wojciechowski et al.
DIABETOLOGIA (2012)
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)
Yingying Qin et al.
HUMAN MOLECULAR GENETICS (2012)
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Womens Health Initiative SHARe Study
Christina T. L. Chen et al.
HUMAN MOLECULAR GENETICS (2012)
Family-based analysis of susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
Han Zhao et al.
HUMAN REPRODUCTION (2012)
Cytogenetic analysis of 531 Chinese women with premature ovarian failure
Xue Jiao et al.
HUMAN REPRODUCTION (2012)
Variants in DENND1A Are Associated with Polycystic Ovary Syndrome in Women of European Ancestry
Corrine K. Welt et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Persistence Pays Off for PCOS Gene Prospectors
Jerome F. Strauss et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition
Joo-Yeon Hwang et al.
JOURNAL OF HUMAN GENETICS (2012)
Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts
Mark O. Goodarzi et al.
JOURNAL OF MEDICAL GENETICS (2012)
Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome
Tao Li et al.
JOURNAL OF MEDICAL GENETICS (2012)
Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women
Cheng-wei Zhang et al.
MOLECULAR BIOLOGY REPORTS (2012)
Negative association between androgen receptor gene CAG repeat polymorphism and polycystic ovary syndrome? A systematic review and meta-analysis
Rui Wang et al.
MOLECULAR HUMAN REPRODUCTION (2012)
Genome-wide association meta-analysis identifies new endometriosis risk loci
Dale R. Nyholt et al.
NATURE GENETICS (2012)
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Lisette Stolk et al.
NATURE GENETICS (2012)
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Yongyong Shi et al.
NATURE GENETICS (2012)
Meta-analysis identifies common variants associated with body mass index in east Asians
Wanqing Wen et al.
NATURE GENETICS (2012)
LAMC1 gene is associated with premature ovarian failure
Jung-A Pyun et al.
MATURITAS (2012)
Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche
Hai Rong et al.
SCIENCE CHINA-LIFE SCIENCES (2012)
Insights into Assessing the Genetics of Endometriosis
Nilufer Rahmioglu et al.
CURRENT OBSTETRICS AND GYNECOLOGY REPORTS (2012)
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure
Megan M. McGuire et al.
FERTILITY AND STERILITY (2011)
Novel NOBOX Loss-of-Function Mutations Account for 6.2% of Cases in a Large Primary Ovarian Insufficiency Cohort
Justine Bouilly et al.
HUMAN MUTATION (2011)
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Jodie N. Painter et al.
NATURE GENETICS (2011)
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
Zi-Jiang Chen et al.
NATURE GENETICS (2011)
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia
Yongyong Shi et al.
NATURE GENETICS (2011)
Abnormal expression of uncoupling protein-2 correlates with CYP11A1 expression in polycystic ovary syndrome
Yun Liu et al.
REPRODUCTION FERTILITY AND DEVELOPMENT (2011)
Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases
Vincent Plagnol et al.
PLOS GENETICS (2011)
Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood
Elisabeth Widen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
The Connecdenn Family, Rab35 Guanine Nucleotide Exchange Factors Interfacing with the Clathrin Machinery
Andrea L. Marat et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Assessment of Cardiovascular Risk and Prevention of Cardiovascular Disease in Women with the Polycystic Ovary Syndrome: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome (AE-PCOS) Society
Robert A. Wild et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population
Sosuke Adachi et al.
JOURNAL OF HUMAN GENETICS (2010)
Genes involved in human premature ovarian failure
Luca Persani et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2010)
Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome
Jing Du et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Cathy E. Elks et al.
NATURE GENETICS (2010)
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese
Satoko Uno et al.
NATURE GENETICS (2010)
Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies
Hao Zhu et al.
NATURE GENETICS (2010)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
Benjamin F. Voight et al.
NATURE GENETICS (2010)
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure
Besma Lakhal et al.
CLINICAL ENDOCRINOLOGY (2009)
CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome
Madhavi Pusalkar et al.
FERTILITY AND STERILITY (2009)
Mutation analysis of NOBOX homeodomain in chinese women with premature ovarian failure
Yingying Qin et al.
FERTILITY AND STERILITY (2009)
Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1
J. D. Cooper et al.
GENES AND IMMUNITY (2009)
The role of genes in the polycystic ovary syndrome: Predisposition and mechanisms
Eythimios Deligeoroglou et al.
GYNECOLOGICAL ENDOCRINOLOGY (2009)
Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene
Erik A. H. Knauff et al.
HUMAN REPRODUCTION (2009)
Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome
O. Valkenburg et al.
HUMAN REPRODUCTION (2009)
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure
Azzedine Aboura et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2
P. Laissue et al.
JOURNAL OF MEDICAL GENETICS (2009)
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche
John R. B. Perry et al.
NATURE GENETICS (2009)
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause
Chunyan He et al.
NATURE GENETICS (2009)
Genetic variation in LIN28B is associated with the timing of puberty
Ken K. Ong et al.
NATURE GENETICS (2009)
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Jeffrey C. Barrett et al.
NATURE GENETICS (2009)
Genetic overlap between polycystic ovary syndrome and bipolar disorder: The endophenotype hypothesis
Bowen Jiang et al.
MEDICAL HYPOTHESES (2009)
Mutations in NR5A1 Associated with Ovarian Insufficiency
Diana Lourenco et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Primary Ovarian Insufficiency
Lawrence M. Nelson
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Reactome knowledgebase of human biological pathways and processes
Lisa Matthews et al.
NUCLEIC ACIDS RESEARCH (2009)
No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population
Yuping Xu et al.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY (2009)
Introduction to the Special Issue: Genome-Wide Association Studies
Gang Zheng et al.
STATISTICAL SCIENCE (2009)
Genome-Wide Association Analyses Identify SPOCK as a Key Novel Gene Underlying Age at Menarche
Yao-Zhong Liu et al.
PLOS GENETICS (2009)
Systematic Reviews of Genetic Association Studies
Gurdeep S. Sagoo et al.
PLOS MEDICINE (2009)
Transcription factor FIGLA is mutated in patients with Premature Ovarian Failure
Han Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Primary ovarian insufficiency: a more accurate term for premature ovarian failure
Corrine K. Welt
CLINICAL ENDOCRINOLOGY (2008)
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study
Hakon Hakonarson et al.
DIABETES (2008)
Functional genetic polymorphisms and female reproductive disorders: Part I: polycystic ovary syndrome and ovarian response
M. Simoni et al.
HUMAN REPRODUCTION UPDATE (2008)
Genome-wide association analysis identifies 20 loci that influence adult height
Michael N. Weedon et al.
NATURE GENETICS (2008)
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Eleftheria Zeggini et al.
NATURE GENETICS (2008)
Examination of US puberty-timing data from 1940 to 1994 for secular trends: Panel findings
Susan Y. Euling et al.
PEDIATRICS (2008)
Public health implications of altered puberty timing
Mari S. Golub et al.
PEDIATRICS (2008)
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
John A. Todd et al.
NATURE GENETICS (2007)
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Paul R. Burton et al.
NATURE (2007)
Amelioration of insulin resistance in women with PCOS via reduced insulin receptor substrate-1 Ser312 phosphorylation following laparoscopic ovarian electrocautery
Kok-Min Seow et al.
HUMAN REPRODUCTION (2007)
A genome-wide association study identifies novel risk loci for type 2 diabetes
Robert Sladek et al.
NATURE (2007)
Growth differentiating factor-9 mutations may be associated with premature ovarian failure
Ertug Kovanci et al.
FERTILITY AND STERILITY (2007)
Identification and characterization of lin-28 homolog B (LIN28B) in human hepatocellular carcinoma
Yingqiu Guo et al.
GENE (2006)
Economic burden of endometriosis
Xin Gao et al.
FERTILITY AND STERILITY (2006)
Evidence for a 3p25 breakpoint hot spot region in thyroid tumors of follicular origin
N. Drieschner et al.
THYROID (2006)
Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome
Mark O. Goodarzi et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure
Paul Laissue et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2006)
A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS
L Jin et al.
MOLECULAR HUMAN REPRODUCTION (2006)
Genetic epidemiology 3 - Genetic association studies
HJ Cordell et al.
LANCET (2005)
The importance of IRS-1 Gly972Arg polymorphism in evaluating the response to metformin treatment in polycystic ovary syndrome
D Ertunc et al.
HUMAN REPRODUCTION (2005)
Complement factor H polymorphism in age-related macular degeneration
RJ Klein et al.
SCIENCE (2005)
GSTM1, GSTT1 and CYP1A1 detoxification gene polymorphisms and their relationship with advanced stages of endometriosis in South Indian women
KA Babu et al.
PHARMACOGENETICS AND GENOMICS (2005)
Polymorphisms of the genes encoding the GSTM1, GSTT1 and GSTP1 in Korean women: no association with endometriosis
SE Hur et al.
MOLECULAR HUMAN REPRODUCTION (2005)
Reactome: a knowledgebase of biological pathways
G Joshi-Tope et al.
NUCLEIC ACIDS RESEARCH (2005)
Premature ovarian failure and fragile X premutation: a study on 45 women
C Bussani et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY (2004)
No association of endometriosis with glutathione S-transferase M1 and T1 null mutations in a Japanese population
M Monizane et al.
JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION (2004)
Glutathione S-transferase M1*null genotype but not myeloperoxidase promoter G-463A polymorphism is associated with higher susceptibility to endometriosis
YY Hsieh et al.
MOLECULAR HUMAN REPRODUCTION (2004)
Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure
B Bodega et al.
MOLECULAR HUMAN REPRODUCTION (2004)
A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea:: Case report
K Gersak et al.
HUMAN REPRODUCTION (2004)
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene
E Di Pasquale et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS)
BCJM Fauser et al.
HUMAN REPRODUCTION (2004)
Origins and consequences of the elongation of the human menstrual cycle during the menopausal transition: The FREEDOM study
F Miro et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome
S Siegel et al.
FERTILITY AND STERILITY (2002)
Genetic and functional analyses of polymorphisms in the human FSH receptor gene
S Sudo et al.
MOLECULAR HUMAN REPRODUCTION (2002)
Identification of novel mutations in FOXL2 associated with premature ovarian failure
SE Harris et al.
MOLECULAR HUMAN REPRODUCTION (2002)
Menstrual patterns leading to the final menstrual period
JR Taffe et al.
MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY (2002)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
E De Baere et al.
HUMAN MOLECULAR GENETICS (2001)
Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome
Y Tong et al.
HORMONE AND METABOLIC RESEARCH (2001)
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi et al.
NATURE GENETICS (2001)
GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer
SW Baxter et al.
CARCINOGENESIS (2001)
Searching for genetic determinants in the new millennium
NJ Risch
NATURE (2000)
Association between idiopathic premature ovarian failure and fragile X premutation
A Marozzi et al.
HUMAN REPRODUCTION (2000)