Genetics of primary ovarian insufficiency

GAPO syndrome: a new syndromic cause of premature ovarian insufficiency

(2016) C. L. Benetti-Pinto et al.   CLIMACTERIC

NOBOXis a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

(2016) N. Bouali et al.   CLINICAL GENETICS

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2

(2016) M. Elzaiat et al.   CLINICAL GENETICS

Impaired protein stability and nuclear localization ofNOBOXvariants associated with premature ovarian insufficiency

(2016) Ilaria Ferrari et al.   HUMAN MOLECULAR GENETICS

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

(2016) O. Tšuiko et al.   HUMAN REPRODUCTION

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

(2016) Matthew S. Bramble et al.   HUMAN REPRODUCTION

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

(2016) Mio Hamatani et al.   JOURNAL OF HUMAN GENETICS

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology

(2016) Sylvie Jaillard et al.   Journal of Ovarian Research

FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells

(2016) Hanyong Jin et al.   PLoS One

miR-23a and miR-27a Promote Human Granulosa Cell Apoptosis by Targeting SMAD51

(2015) Mingyue Nie et al.   BIOLOGY OF REPRODUCTION

MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure

(2015) Yujie Dang et al.   FERTILITY AND STERILITY

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

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

(2015) Bergithe E. Oftedal et al.   IMMUNITY

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

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

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure

(2015) S. Katari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

(2015) Ariella Weinberg-Shukron et al.   JOURNAL OF CLINICAL INVESTIGATION

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

(2015) Yardena Tenenbaum-Rakover et al.   JOURNAL OF MEDICAL GENETICS

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure

(2015) Yael Goldberg et al.   Cancer Genetics

CSB-PGBD3 Mutations Cause Premature Ovarian Failure

(2015) Yingying Qin et al.   PLoS Genetics

GDF9 is Transiently Expressed in Oocytes before Follicle Formation in the Human Fetal Ovary and is Regulated by a Novel NOBOX Transcript

(2015) Rosemary A. L. Bayne et al.   PLoS One

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

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

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

(2014) Ernest B. Hook et al.   HUMAN GENETICS

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

The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency

(2014) M. Voorhuis et al.   HUMAN REPRODUCTION

The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders

(2014) Luca Persani et al.   HUMAN REPRODUCTION UPDATE

Bloom syndrome

(2014) Harleen Arora et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Genetics of primary ovarian insufficiency: a review

(2014) Cristina Fortuño et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

Genetic defects of ovarian TGF-β-like factors and premature ovarian failure

(2014) L. Persani et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

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

NOBOX is a key FOXL2 partner involved in ovarian folliculogenesis

(2014) Justine Bouilly et al.   Journal of Molecular Cell Biology

The transcription factor FOXL2 mobilizes estrogen signaling to maintain the identity of ovarian granulosa cells

(2014) Adrien Georges et al.   eLife

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

Five years' experience using oocyte vitrification to preserve fertility for medical and nonmedical indications

(2013) Juan A. Garcia-Velasco et al.   FERTILITY AND STERILITY

Ovarian stimulation in cancer patients

(2013) Hakan Cakmak et al.   FERTILITY AND STERILITY

A genome-wide association study of early menopause and the combined impact of identified variants

(2013) John R. B. Perry et al.   HUMAN MOLECULAR GENETICS

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

(2013) C. Castronovo et al.   HUMAN REPRODUCTION

Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency

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

Positive Selection in Bone Morphogenetic Protein 15 Targets a Natural Mutation Associated with Primary Ovarian Insufficiency in Human

(2013) Sylvain Auclair et al.   PLoS One

The Autoimmune Regulator Prevents Premature Reproductive Senescence in Female Mice1

(2012) Susmita Jasti et al.   BIOLOGY OF REPRODUCTION

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

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

Differentially expressed plasma microRNAs in premature ovarian failure patients and the potential regulatory function of mir-23a in granulosa cell apoptosis

(2012) Xiaokui Yang et al.   REPRODUCTION

An update on primary ovarian insufficiency

(2012) Min Jin et al.   Science China-Life Sciences

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

(2011) David Zangen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

(2011) Anne-Laure Todeschini 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

Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function

(2011) C. B. Karimov et al.   HUMAN REPRODUCTION

Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1

(2011) J. Schuettler et al.   HUMAN REPRODUCTION

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

Premature Ovarian Failure in Patients with Autoimmune Addison's Disease: Clinical, Genetic, and Immunological Evaluation

(2011) G. Reato et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology

(2011) Sandrine Caburet et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The Timing of the Age at Which Natural Menopause Occurs

(2011) Ellen B. Gold   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Pregnancy in Bloom's Syndrome

(2010) Marie T. Mulcahy et al.   CLINICAL GENETICS

Roles of Werner syndrome protein in protection of genome integrity

(2010) Marie L. Rossi et al.   DNA REPAIR

Mutation analysis ofFOXL2gene in Chinese patients with premature ovarian failure

(2010) Feng Ni et al.   GYNECOLOGICAL ENDOCRINOLOGY

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

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

(2010) C. E. Bennett et al.   HUMAN REPRODUCTION

Successful outcome of pregnancy complicated by Werner's syndrome

(2010) Andrzej Torbé et al.   Journal of Maternal-Fetal & Neonatal Medicine

Genes involved in human premature ovarian failure

(2010) Luca Persani et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

FOXL2 Interacts with Steroidogenic Factor-1 (SF-1) and Represses SF-1-InducedCYP17Transcription in Granulosa Cells

(2010) Mira Park et al.   MOLECULAR ENDOCRINOLOGY

Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis

(2010) S. Ledig et al.   Sexual Development

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

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

(2009) Aurélie Dipietromaria et al.   HUMAN MOLECULAR GENETICS

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

(2009) Raffaella Rossetti et al.   HUMAN MUTATION

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

(2009) T. Corre et al.   HUMAN REPRODUCTION

Inhibin and premature ovarian failure

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

Gonadal function in male and female patients with classic galactosemia

(2009) M.E. Rubio-Gozalbo et al.   HUMAN REPRODUCTION UPDATE

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

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

(2009) P Laissue et al.   JOURNAL OF MEDICAL GENETICS

Mutations inNR5A1Associated with Ovarian Insufficiency

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

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

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

Lim Homeobox Gene, Lhx8, Is Essential for Mouse Oocyte Differentiation and Survival1

(2008) Youngsok Choi et al.   BIOLOGY OF REPRODUCTION

The ovarioleukodystrophy

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

Oocyte-Specific Overexpression of Mouse Bone Morphogenetic Protein-15 Leads to Accelerated Folliculogenesis and an Early Onset of Acyclicity in Transgenic Mice

(2008) Heather E. McMahon et al.   ENDOCRINOLOGY

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

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

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

(2008) Yingying Qin et al.   FERTILITY AND STERILITY

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity

(2008) Jessica Ezzell Hunter et al.   GENETIC EPIDEMIOLOGY

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

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients

(2008) Jeyabalan Nallathambi et al.   HUMAN MUTATION

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION

Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study

(2008) J. Rohr et al.   HUMAN REPRODUCTION

FoxL2 and Smad3 Coordinately Regulate Follistatin Gene Transcription

(2008) Amy L. Blount et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Fertility and Impact of Pregnancies on the Mother and Child in Classic Galactosemia

(2008) Cynthia S. Gubbels et al.   OBSTETRICAL & GYNECOLOGICAL SURVEY

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

(2007) Susanne Ledig et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Analysis of LHX8 mutation in premature ovarian failure

(2007) Yingying Qin et al.   FERTILITY AND STERILITY