Genetics of primary ovarian insufficiency: new developments and opportunities (Q26798895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26243799%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Zi-Jiang Chen

series ordinal

4

1 reference

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31 May 2020

1

Yingying Qin

1 reference

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31 May 2020

author name string

Joe Leigh Simpson

series ordinal

3

1 reference

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31 May 2020

language of work or name

English

0 references

publication date

2015

1 reference

Human Reproduction Update

4 August 2015

5 references

13 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

6 references

13 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26243799%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

21

1 reference

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31 May 2020

page(s)

787-808

1 reference

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31 May 2020

issue

6

1 reference

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Creative Commons Attribution-NonCommercial 4.0 International

31 May 2020

copyright license

6 references

13 March 2019

24 March 2019

20 June 2019

30 June 2019

14 September 2019

on focus list of Wikimedia project

29 May 2020

ScienceSource

0 references

cites work

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Mutations in NR5A1 associated with ovarian insufficiency

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Transcription factor FIGLA is mutated in patients with premature ovarian failure

7 April 2017

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NOBOX homeobox mutation causes premature ovarian failure

7 April 2017

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Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

7 April 2017

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Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

7 April 2017

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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

7 April 2017

1 reference

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Ovarian failure related to eukaryotic initiation factor 2B mutations

7 April 2017

1 reference

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FOXL2 mutation screening in a large panel of POF patients and XX males

7 April 2017

1 reference

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Identification of novel mutations in FOXL2 associated with premature ovarian failure

7 April 2017

1 reference

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

7 April 2017

1 reference

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MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice

7 April 2017

1 reference

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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

7 April 2017

1 reference

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A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

7 April 2017

1 reference

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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

7 April 2017

1 reference

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Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner

7 April 2017

1 reference

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MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mouse HFM1/Mer3 is required for crossover formation and complete synapsis of homologous chromosomes during meiosis

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Microarray analyses of newborn mouse ovaries lacking Nobox

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Growth differentiating factor-9 mutations may be associated with premature ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Sall4 modulates embryonic stem cell pluripotency and early embryonic development by the transcriptional regulation of Pou5f1

7 April 2017

1 reference

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Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Missense mutations in the BMP15 gene are associated with ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The Gs-linked receptor GPR3 maintains meiotic arrest in mammalian oocytes

7 April 2017

1 reference

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NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Germ cell-specific transcriptional regulator sohlh2 is essential for early mouse folliculogenesis and oocyte-specific gene expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Clast4, the murine homologue of human eIF4E-Transporter, is highly expressed in developing oocytes and post-translationally modified at meiotic maturation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Conserved role of nanos proteins in germ cell development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutant Cohesin in Premature Ovarian Failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Cytogenetic abnormalities in Tunisian women with premature ovarian failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

A NANOS3 mutation linked to protein degradation causes premature ovarian insufficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

An encyclopedia of mouse DNA elements (Mouse ENCODE).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Blood cell mitochondrial DNA content and premature ovarian aging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Ovarian function in Duarte galactosemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Cytogenetics of premature ovarian failure: an investigation on 269 affected women.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Ovarian function in girls and women with GALT-deficiency galactosemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Inhibin and premature ovarian failure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Primary Ovarian Insufficiency: X chromosome defects and autoimmunity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Progesterone receptor membrane component 1--many tasks for a versatile protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Progesterone receptor membrane component 1: an integrative review.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Fragile X syndrome: assessment and treatment implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The FMR1 premutation and reproduction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Premature ovarian failure in androgen receptor-deficient mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

47,XXX in an adolescent with premature ovarian failure and autoimmune disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene

28 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

28 September 2017

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Ovarian differentiation and gonadal failure

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Molecular genetics of Bloom's syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mental status of females with an FMR1 gene full mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The genetics of XX gonadal dysgenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

X inactivation in man: a woman with t(Xq--;12q+)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Progesterone regulation of human granulosa/luteal cell viability by an RU486-independent mechanism.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Leukodystrophy in patients with ovarian dysgenesis.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Incidence of premature ovarian failure.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Chromosome studies and fertility treatment in women with ovarian failure

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The cytogenetics of premature ovarian failure

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Premature ovarian failure in a 35-year-old woman with a Robertsonian translocation.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

31 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

The human FOXL2 mutation database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

POLG mutations and age at menopause.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging Process

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

CITED2 mutations potentially cause idiopathic premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Guidelines for the appropriate use of genetic tests in infertile couples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Investigation of the human stem cell factor KIT ligand gene, KITLG, in women with 46,XX spontaneous premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Cytogenetic analysis of 179 Iranian women with premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Infertility caused by retardation of follicular development in mice with oocyte-specific expression of Foxo3a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

The ovarioleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Low oocyte mitochondrial DNA content in ovarian insufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Progesterone membrane receptor component 1 expression in the immature rat ovary and its role in mediating progesterone's antiapoptotic action

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Expression of forkhead transcription factors in human granulosa cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Absence of 566C>T mutation in exon 7 of the FSHR gene in Indian women with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Long-range activation of Sox9 in Odd Sex (Ods) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

p27kip1 (cyclin-dependent kinase inhibitor 1B) controls ovarian development by suppressing follicle endowment and activation and promoting follicle atresia in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Oocyte-specific deletion of Pten causes premature activation of the primordial follicle pool.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Genetics of female infertility due to anomalies of the ovary and mullerian ducts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Mutations in HFM1 in recessive primary ovarian insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

FSH receptor gene variants are rarely associated with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Cytokine and coagulation characteristics of retrieved blood after arthroplasty

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

Genome-wide copy number scan in Chinese patients with premature ovarian failure

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

[Follicular stimulating hormone receptor gene C566T mutation in premature ovarian failure].

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

ACOG committee opinion. No. 338: Screening for fragile X syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

The need for interaction between assisted reproduction technology and genetics

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594617

Ovarian failure in galactosaemia

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Inhibin: a candidate gene for premature ovarian failure

1 reference

12 December 2020

Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome

1 reference

12 December 2020

LAMC1 gene is associated with premature ovarian failure

1 reference

12 December 2020

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice

1 reference

12 December 2020

Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

1 reference

12 December 2020

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

1 reference

12 December 2020

X-chromosome abnormalities in women with premature ovarian failure

1 reference

12 December 2020

Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure

1 reference

12 December 2020

No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure

1 reference

12 December 2020

Cytogenetic analysis of 531 Chinese women with premature ovarian failure

1 reference

12 December 2020

Germline study of AR gene of Indian women with ovarian failure

1 reference

12 December 2020

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

1 reference

12 December 2020

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression

1 reference

12 December 2020

The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry

1 reference

12 December 2020

Premature ovarian failure associated with a Robertsonian translocation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of the müllerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure

1 reference

12 December 2020

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

1 reference

12 December 2020

Mutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome

1 reference

12 December 2020

Copy number variants in premature ovarian failure and ovarian dysgenesis

1 reference

12 December 2020

Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease?

1 reference

12 December 2020

INHA promoter polymorphisms are associated with premature ovarian failure

1 reference

12 December 2020

Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure

1 reference

12 December 2020

Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure

1 reference

12 December 2020

Clinical features of young women with hypergonadotropic amenorrhea

1 reference

12 December 2020

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

1 reference

12 December 2020

Mortality rates among carriers of ataxia-telangiectasia mutant alleles

1 reference

12 December 2020

Genetic abnormalities in Turkish women with premature ovarian failure

1 reference

12 December 2020

PTEN gene analysis in premature ovarian failure patients

1 reference

12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

12 December 2020

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence

1 reference

12 December 2020

Retreat of the triplet repeat?

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDMV036

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1093/HUMUPD/DMV036

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26243799%20AND%20SRC:MED&resulttype=core&format=json

release_rnl462u5vzgebofe2ycubj3acm

31 May 2020

Fatcat ID

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26243799%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26243799%20AND%20SRC:MED&resulttype=core&format=json