Novel variants in women with premature ovarian function decline identified via whole-exome sequencing

FANCL gene mutations in premature ovarian insufficiency

(2020) Yajuan Yang et al.   HUMAN MUTATION

Mutational analysis of FAM175A gene in patients with premature ovarian insufficiency

(2019) Xiaofei Xu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis

(2019) S. Golezar et al.   CLIMACTERIC

Rare variants in FANCA induce premature ovarian insufficiency

(2019) Xi Yang et al.   HUMAN GENETICS

BMPR1A and BMPR1B missense mutations cause primary ovarian insufficiency

(2019) Lucie Renault et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

(2019) Minying Zhao et al.   Journal of Ovarian Research

Loss of TOP3B leads to increased R-loop formation and genome instability

(2019) Tao Zhang et al.   Open Biology

Main steps in DNA double-strand break repair: an introduction to homologous recombination and related processes

(2018) Lepakshi Ranjha et al.   CHROMOSOMA

Antimüllerian hormone as a risk factor for miscarriage in naturally conceived pregnancies

(2018) Brianna M. Lyttle Schumacher et al.   FERTILITY AND STERILITY

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

(2018) Paul Laissue   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Essential Role of BRCA2 in Ovarian Development and Function

(2018) Ariella Weinberg-Shukron et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Genetics of Premature Ovarian Insufficiency

(2018) Xue Jiao et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency

(2017) Hongli Liu et al.   FERTILITY AND STERILITY

A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency

(2017) Carolina Carlosama et al.   HUMAN MOLECULAR GENETICS

Mutations in MSH5 in primary ovarian insufficiency

(2017) Ting Guo et al.   HUMAN MOLECULAR GENETICS

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

(2017) Liliana Catherine Patiño et al.   HUMAN REPRODUCTION

Ovarian Aging in Women With BRCA Germline Mutations

(2017) Wayne Lin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations

(2017) Limor Man et al.   Frontiers in Molecular Neuroscience

Genetics of primary ovarian insufficiency

(2016) R. Rossetti et al.   CLINICAL GENETICS

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

Minichromosome maintenance complex component 8 mutations cause primary ovarian insufficiency

(2016) Xiaoyun Dou et al.   FERTILITY AND STERILITY

A homozygousNOBOXtruncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency

(2016) Lin Li et al.   HUMAN REPRODUCTION

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   HUMAN REPRODUCTION

MCM8 and MCM9 Nucleotide Variants in Women with Primary Ovarian Insufficiency

(2016) Swapna Desai et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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 Fanconi anaemia pathway: new players and new functions

(2016) Raphael Ceccaldi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

FMR1 CGG Repeats

(2016) Lisa M. Pastore et al.   Reproductive Sciences

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

Testing and interpreting measures of ovarian reserve: a committee opinion

(2015)   FERTILITY AND STERILITY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency

(2015) B. Alvaro Mercadal et al.   HUMAN REPRODUCTION

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

Diminished ovarian reserve, premature ovarian failure, poor ovarian responder—a plea for universal definitions

(2015) J. Cohen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis–ptosis–epicanthus inversus syndrome

(2015) Nikolaos Settas et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

(2015) Paul Laissue   MOLECULAR AND CELLULAR ENDOCRINOLOGY

CSB-PGBD3 Mutations Cause Premature Ovarian Failure

(2015) Yingying Qin et al.   PLoS Genetics

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

(2014) Yingying Qin et al.   FERTILITY AND STERILITY

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

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

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

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

Committee Opinion No. 605

(2014)   OBSTETRICS AND GYNECOLOGY

Identification of a mutation in GDF9 as a novel cause of diminished ovarian reserve in young women

(2013) T.-T. Wang et al.   HUMAN REPRODUCTION

Impaired Fertility and FSH Synthesis in Gonadotrope-SpecificFoxl2Knockout Mice

(2013) Stella Tran et al.   MOLECULAR ENDOCRINOLOGY

The Autoimmune Regulator Prevents Premature Reproductive Senescence in Female Mice1

(2012) Susmita Jasti et al.   BIOLOGY OF REPRODUCTION

NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency

(2012) Pascal Philibert et al.   FERTILITY AND STERILITY

Ovarian reserve status in young women is associated with altered gene expression in membrana granulosa cells

(2012) C. C. Skiadas et al.   MOLECULAR HUMAN REPRODUCTION

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Impaired Gremlin 1 (GREM1) expression in cumulus cells in young women with diminished ovarian reserve (DOR)

(2011) Sangita Jindal et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Differential Granulosa Cell Gene Expression in Young Women with Diminished Ovarian Reserve

(2011) Keri Greenseid et al.   Reproductive Sciences

WNT4 is required for normal ovarian follicle development and female fertility

(2010) Alexandre Boyer et al.   FASEB JOURNAL

Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

(2010) Diana Monica Warman et al.   Hormone Research in Paediatrics

Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing

(2010) Norbert Gleicher et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Primary Ovarian Insufficiency

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

Mechanism of Replication-Coupled DNA Interstrand Crosslink Repair

(2008) Markus Räschle et al.   CELL

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

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY