(Q61978466)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280899%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280899%20AND%20SRC:MED&resulttype=core&format=json

premature ovarian failure

31 December 2019

main subject

1 reference

2

1 reference

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31 December 2019

Silvia Bione

5

1 reference

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31 December 2019

Orsetta Zuffardi

8

1 reference

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31 December 2019

author name string

Francesca Rossetti

1

1 reference

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31 December 2019

Tiziano Pramparo

3

1 reference

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31 December 2019

Cinzia Sala

4

1 reference

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31 December 2019

Franca Bernardi

6

1 reference

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31 December 2019

Mara Goegan

7

1 reference

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31 December 2019

Daniela Toniolo

9

1 reference

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31 December 2019

publication date

1 October 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280899%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

12

1 reference

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31 December 2019

issue

10

1 reference

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31 December 2019

page(s)

829-834

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201186

31 December 2019

exact match

0 references

cites work

Turner syndrome and haploinsufficiency

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7 January 2021

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

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7 January 2021

Escape from X inactivation in human and mouse

1 reference

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7 January 2021

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

A first-generation X-inactivation profile of the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

The phenotypic effects of small, distal Xq deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

An analysis of Xq deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

X chromosome genes and premature ovarian failure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Genetic basis of premature ovarian failure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201186

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15280899%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference