Genetics of primary ovarian insufficiency: new developments and opportunities

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

(2015) Dora Janeth Fonseca et al.   FERTILITY AND STERILITY

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency

(2015) Shidou Zhao et al.   FERTILITY AND STERILITY

NewNOBOXMutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency DecreaseKIT-LExpression

(2015) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure

(2015) Durgadatta Tosh et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytogenetic abnormalities in Tunisian women with premature ovarian failure

(2014) Wiem Ayed et al.   COMPTES RENDUS BIOLOGIES

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

(2014) Yingying Qin et al.   FERTILITY AND STERILITY

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform

(2014) A. Norling et al.   HUMAN REPRODUCTION

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype

(2014) L. C. Vilodre et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese

(2014) Ting Guo et al.   PLoS One

AMH and AMHR2 genetic variants in Chinese women with primary ovarian insufficiency and normal age at natural menopause

(2014) Chunrong Qin et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure

(2014) Jiu-Ling Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytogenetic analysis of 179 Iranian women with premature ovarian failure

(2013) Hamid Kalantari et al.   GYNECOLOGICAL ENDOCRINOLOGY

Association study of anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms with idiopathic primary ovarian insufficiency

(2013) S. H. Yoon et al.   HUMAN REPRODUCTION

Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency

(2013) Thushiga Kasippillai et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

(2013) Xue Jiao et al.   PLoS One

Mutational analysis of SKP2 and P27 in Chinese Han women with premature ovarian failure

(2013) Zhiyi Zhao et al.   REPRODUCTIVE BIOMEDICINE ONLINE

FSH receptor gene variants are rarely associated with premature ovarian failure

(2013) Kathryn J. Woad et al.   REPRODUCTIVE BIOMEDICINE ONLINE

A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency

(2013) X Wu et al.   Cell Death & Disease

Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis

(2013) Michel F. Guiraldelli et al.   PLoS Genetics

Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure

(2012) Besma Lakhal et al.   GENE

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

(2012) Alessandra Fierabracci et al.   GENE

Cytogenetic analysis of 531 Chinese women with premature ovarian failure

(2012) X. Jiao et al.   HUMAN REPRODUCTION

POLG mutations and age at menopause

(2012) A. J. Duncan et al.   HUMAN REPRODUCTION

LAMC1 gene is associated with premature ovarian failure

(2012) Jung-A Pyun et al.   MATURITAS

MCM8- and MCM9-Deficient Mice Reveal Gametogenesis Defects and Genome Instability Due to Impaired Homologous Recombination

(2012) Malik Lutzmann et al.   MOLECULAR CELL

Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

(2012) Yongyong Shi et al.   NATURE GENETICS

ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

(2012) Yingying Qin et al.   Orphanet Journal of Rare Diseases

Ovotoxic Effects of Galactose Involve Attenuation of Follicle-Stimulating Hormone Bioactivity and Up-Regulation of Granulosa Cell p53 Expression

(2012) Sayani Banerjee et al.   PLoS One

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

(2012) Sandrine Caburet et al.   PLoS One

Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging

(2012) Marco Bonomi et al.   PLoS One

CITED2 mutations potentially cause idiopathic premature ovarian failure

(2012) Dora Janeth Fonseca et al.   Translational Research

PTEN gene analysis in premature ovarian failure patients

(2011) Zhiyi Zhao et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

(2011) Diego Ojeda et al.   FERTILITY AND STERILITY

Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency

(2011) Bunpei Ishizuka et al.   FERTILITY AND STERILITY

Ovarian function in Duarte galactosemia

(2011) Jennifer R. Badik et al.   FERTILITY AND STERILITY

Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure

(2011) Megan M. McGuire et al.   FERTILITY AND STERILITY

Copy number variants on the X chromosome in women with primary ovarian insufficiency

(2011) Erik A.H. Knauff et al.   FERTILITY AND STERILITY

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

(2011) Femi Janse et al.   FERTILITY AND STERILITY

Haplotype and mutation analysis of theTGFBR3gene in Chinese women with idiopathic premature ovarian failure

(2011) Chun-rong Qin et al.   GYNECOLOGICAL ENDOCRINOLOGY

Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)

(2011) Yingying Qin et al.   HUMAN MOLECULAR GENETICS

Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study

(2011) Christina T. L. Chen et al.   HUMAN MOLECULAR GENETICS

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort

(2011) Justine Bouilly et al.   HUMAN MUTATION

Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown

(2011) Agnieszka Lechowska et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

(2011) Simona Baronchelli et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure

(2011) Beili Chen et al.   Reproductive Biology and Endocrinology

Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure

(2011) Chun-rong Qin et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Screening for mutations of the FOXO4 gene in premature ovarian failure patients

(2011) Dora Janeth Fonseca et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

(2010) Marian A. Spath et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

(2010) Zhi-Bin Tong et al.   FERTILITY AND STERILITY

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure

(2010) D. Tiotiu et al.   HUMAN REPRODUCTION

Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure

(2010) T. E. Dudding et al.   HUMAN REPRODUCTION

Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)

(2010) C. R. Quilter et al.   HUMAN REPRODUCTION

Genetic abnormalities in Turkish women with premature ovarian failure

(2010) Gulay Ceylaner et al.   INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

(2010) Akira Nishimura-Tadaki et al.   JOURNAL OF HUMAN GENETICS

Ovarian function in girls and women with GALT-deficiency galactosemia

(2010) Judith L. Fridovich-Keil et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion

(2010) Kenichi Inagaki et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Mitotic cell-cycle progression is regulated by CPEB1 and CPEB4-dependent translational control

(2010) Isabel Novoa et al.   NATURE CELL BIOLOGY

A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese

(2010) Satoko Uno et al.   NATURE GENETICS

Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

(2010) Zi-Jiang Chen et al.   NATURE GENETICS

A review of trisomy X (47,XXX)

(2010) Nicole R Tartaglia et al.   Orphanet Journal of Rare Diseases

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

(2010) Pascal Philibert et al.   Reproductive Biology and Endocrinology

Analysis of cyclin-dependent kinase inhibitor 1B mutation in Han Chinese women with premature ovarian failure

(2010) Binbin Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients

(2010) Jing Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis

(2010) S. Ledig et al.   Sexual Development

Mutational analysis of the PTEN gene in women with premature ovarian failure

(2009) Yoshihiko Shimizu et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure

(2009) Besma Lakhal et al.   CLINICAL ENDOCRINOLOGY

BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?

(2009) Besma Lakhal et al.   CLINICAL ENDOCRINOLOGY

Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure

(2009) Binbin Wang et al.   CLINICAL ENDOCRINOLOGY

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

(2009) Raffaella Rossetti et al.   HUMAN MUTATION

Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene

(2009) Erik A.H. Knauff et al.   HUMAN REPRODUCTION

Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure

(2009) S. Chatterjee et al.   HUMAN REPRODUCTION

Inhibin and premature ovarian failure

(2009) A.L. Chand et al.   HUMAN REPRODUCTION UPDATE

Gonadal defects in Cited2 -mutant mice indicate a role for SF1 in both testis and ovary differentiation

(2009) Alexander N. Combes et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Absence of 566C >T mutation in exon 7 of theFSHRgene in Indian women with premature ovarian failure

(2009) Golla Jaya Prakash et al.   INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS

Primary ovarian insufficiency: X chromosome defects and autoimmunity

(2009) Luca Persani et al.   JOURNAL OF AUTOIMMUNITY

Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure

(2009) Azzedine Aboura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival

(2009) Minna Jääskeläinen et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure

(2009) Binbin Wang et al.   MOLECULAR HUMAN REPRODUCTION

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

GPR3 may not be a potential candidate gene for premature ovarian failure

(2009) Sirui Zhou et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair

(2009) Ewelina Bolcun-Filas et al.   PLoS Genetics

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

(2008) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and Phenotypic Heterogeneity in Ovarian Failure

(2008) Joe Leigh Simpson   Annals of the New York Academy of Sciences

Germ Cell-Specific Transcriptional Regulator Sohlh2 Is Essential for Early Mouse Folliculogenesis and Oocyte-Specific Gene Expression1

(2008) Youngsok Choi et al.   BIOLOGY OF REPRODUCTION

The ovarioleukodystrophy

(2008) Stéphane Mathis et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Genetic investigation of four meiotic genes in women with premature ovarian failure

(2008) Béatrice Mandon-Pépin et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Oocyte-specific G-protein–coupled receptor 3 (GPR3): no perturbations found in 82 women with premature ovarian failure (first report)

(2008) Ertug Kovanci et al.   FERTILITY AND STERILITY

Expression of forkhead transcription factors in human granulosa cells

(2008) Margareta D. Pisarska et al.   FERTILITY AND STERILITY

Mutation analysis of NOBOX homeodomain in chinese women with premature ovarian failure

(2008) Yingying Qin et al.   FERTILITY AND STERILITY

Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns

(2008) Fumihiro Sugawa et al.   FERTILITY AND STERILITY

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

(2008) Mahmoud Reza Mansouri et al.   HUMAN MOLECULAR GENETICS

Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure

(2008) H. Kang et al.   HUMAN REPRODUCTION

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus

(2008) R.A. Oldenburg et al.   HUMAN REPRODUCTION

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome

(2008) F Rizzolio et al.   JOURNAL OF MEDICAL GENETICS

Oocyte-Specific Deletion of Pten Causes Premature Activation of the Primordial Follicle Pool

(2008) P. Reddy et al.   SCIENCE

Estrogen receptor α gene polymorphisms are associated with idiopathic premature ovarian failure

(2007) Karla L. Bretherick et al.   FERTILITY AND STERILITY

Progesterone receptor membrane component 1—Many tasks for a versatile protein

(2007) R LOSEL et al.   STEROIDS