(Q45931023)

17 December 2017

title

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

1 reference

17 December 2017

author name string

Justine Bouilly

1

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17 December 2017

Anne Bachelot

2

1 reference

17 December 2017

Isabelle Broutin

3

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17 December 2017

Philippe Touraine

4

1 reference

17 December 2017

Nadine Binart

5

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17 December 2017

publication date

9 September 2011

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17 December 2017

published in

Human Mutation

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17 December 2017

volume

32

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17 December 2017

issue

10

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17 December 2017

page(s)

1108-1113

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17 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure.

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Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Primary ovarian insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

Growth differentiation factor-9 is required during early ovarian folliculogenesis

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

Hox genes in time and space during vertebrate body formation

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

Mutations in NR5A1 associated with ovarian insufficiency

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

Clinical practice. Primary ovarian insufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

NOBOX homeobox mutation causes premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

Discovery of germ cell-specific transcripts by expressed sequence tag database analysis

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21543

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Nobox is a homeobox-encoding gene preferentially expressed in primordial and growing oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Transcription factor FIGLA is mutated in patients with premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21543

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21543

1 reference

17 December 2017

1 reference

17 December 2017