Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

(2018) Monica M. França et al.   European Journal of Medical Genetics

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

(2018) Paul Laissue   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency

(2018) Wei Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

(2018) Ilpo Huhtaniemi et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

(2018) Idoia Martinez de LaPiscina et al.   Frontiers in Endocrinology

Insulin-like peptide 3 (INSL3) is a major regulator of female reproductive physiology

(2018) Richard Ivell et al.   HUMAN REPRODUCTION UPDATE

Molecular Genetics of Premature Ovarian Insufficiency

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

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

(2018) I Bestetti et al.   HUMAN REPRODUCTION

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

(2017) Monica M. França et al.   Sexual Development

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

(2017) Liliana Catherine Patiño et al.   Systems Biology in Reproductive Medicine

In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells

(2017) Dajung Jung et al.   Nature Communications

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

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

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

ESHRE Guideline: management of women with premature ovarian insufficiency

(2016)   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

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

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

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

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

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

The screening of HELQ gene in Chinese patients with premature ovarian failure

(2015) Wenting Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

CSB-PGBD3 Mutations Cause Premature Ovarian Failure

(2015) Yingying Qin et al.   PLoS Genetics

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

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

Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo

(2014) Stéphane D. Vincent et al.   HUMAN MOLECULAR GENETICS

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

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

Mutant Cohesin in Premature Ovarian Failure

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

Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency

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

HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis

(2013) Carrie A. Adelman et al.   NATURE

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

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

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure

(2010) Veronica Bertini et al.   FERTILITY AND STERILITY

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