Ovarian differentiation and gonadal failure (Q33869535)

29 July 2017

1 reference

title

Ovarian differentiation and gonadal failure (English)

1 reference

29 July 2017

Simpson JL

1

1 reference

29 July 2017

Rajkovic A

series ordinal

2

1 reference

29 July 2017

publication date

1 December 1999

1 reference

American Journal of Medical Genetics Part A

29 July 2017

published in

1 reference

29 July 2017

volume

89

1 reference

29 July 2017

issue

4

1 reference

29 July 2017

page(s)

186-200

1 reference

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Atm-deficient mice: a paradigm of ataxia telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Ovarian dysgenesis in individuals with chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Growth differentiation factor-9 is required during early ovarian folliculogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Pseudohermaphroditism with testes and a 46, XX karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Meiotic pachytene arrest in MLH1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Mammalian MutS homologue 5 is required for chromosome pairing in meiosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Analysis of the origin of Turner's syndrome using polymorphic DNA probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Embryonic expression of a haematopoietic growth factor encoded by the SI locus and the ligand for c-kit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Cockayne syndrome: Review of 140 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

The Perrault syndrome: clinical report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Prolongation of ovarian lifespan into advanced chronological age by Bax-deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

46,XX gonadal dysgenesis with epibulbar dermoid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Ablation of bcl-2 gene expression decreases the numbers of oocytes and primordial follicles established in the post-natal female mouse gonad

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

The sequence organization of Yp/proximal Xq homologous regions of the human sex chromosomes is highly conserved.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

A New Cause of Female Pseudohermaphroditism: Placental Aromatase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Female infertility in mice lacking connexin 37

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Dax1 antagonizes Sry action in mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

A new chromosomal instability disorder: the Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Role of Ahch in gonadal development and gametogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Gonadal dysfunction in patients with ataxia telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C186%3A%3AAID-AJMG3%3E3.0.CO%3B2-5

10.1002/(SICI)1096-8628(19991229)89:4<186::AID-AJMG3>3.0.CO;2-5

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference