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

A non-senseMCM9mutation in a familial case of primary ovarian insufficiency

(2016) F. Fauchereau et al.   CLINICAL GENETICS

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

Dysregulation of granulosal bone morphogenetic protein receptor 1B density is associated with reduced ovarian reserve and the age-related decline in human fertility

(2016) Sheena L.P. Regan et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

BMP signalling in human fetal ovary somatic cells is modulated in a gene-specific fashion by GREM1 and GREM2

(2016) Rosemary A. Bayne et al.   MOLECULAR HUMAN REPRODUCTION

Gremlin1 preferentially binds to bone morphogenetic protein-2 (BMP-2) and BMP-4 over BMP-7

(2015) Rachel H. Church et al.   BIOCHEMICAL JOURNAL

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

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

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

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

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

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Aberrant GDF9 Expression and Activation Are Associated With Common Human Ovarian Disorders

(2014) Courtney M. Simpson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

Roles of Gremlin 1 and Gremlin 2 in regulating ovarian primordial to primary follicle transition

(2014) Eric E Nilsson et al.   REPRODUCTION

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

Expression of TGF-beta superfamily growth factors, their receptors, the associated SMADs and antagonists in five isolated size-matched populations of pre-antral follicles from normal human ovaries

(2013) Stine Gry Kristensen et al.   MOLECULAR HUMAN REPRODUCTION

Growth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions

(2013) J. Peng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Members of the DAN Family Are BMP Antagonists That Form Highly Stable Noncovalent Dimers

(2012) Chandramohan Kattamuri et al.   JOURNAL OF MOLECULAR BIOLOGY

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

The TGFbeta Superfamily Signaling Pathway

(2012) Alexander Weiss et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Loss of Gremlin Delays Primordial Follicle Assembly but Does Not Affect Female Fertility in Mice1

(2011) Michelle Myers et al.   BIOLOGY OF REPRODUCTION

Notch signaling: simplicity in design, versatility in function

(2011) E. R. Andersson et al.   DEVELOPMENT

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

The ovarian reserve in mammals: A functional and evolutionary perspective

(2011) Philippe Monget et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Insights into Primary Ovarian Insufficiency through Genetically Engineered Mouse Models

(2011) Shannon Sullivan et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Primary ovarian insufficiency

(2010) Michel De Vos et al.   LANCET

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

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

The Mammalian Ovary from Genesis to Revelation

(2009) Mark A. Edson et al.   ENDOCRINE REVIEWS

Characterization of the Structural Features and Interactions of Sclerostin

(2009) Vaclav Veverka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetically modified mouse models for premature ovarian failure (POF)

(2009) Krishna Jagarlamudi et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Primary Ovarian Insufficiency

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

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

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

(2007) Paul Laissue et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY