X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. (Q24539046)

5 July 2017

title

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. (English)

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5 July 2017

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5

Fain PR

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5 July 2017

Bennett CL

1

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5 July 2017

Yoshioka R

2

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5 July 2017

Kiyosawa H

3

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5 July 2017

Barker DF

4

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5 July 2017

Shigeoka AO

6

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5 July 2017

Chance PF

7

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5 July 2017

language of work or name

English

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publication date

1 February 2000

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American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

volume

66

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5 July 2017

issue

2

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5 July 2017

page(s)

461-468

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

5 July 2017

cites work

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

24 March 2017

1 reference

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The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene

7 April 2017

1 reference

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The Wiskott-Aldrich syndrome.

27 September 2017

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Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation

27 September 2017

1 reference

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Mutation of WASP in Wiskott-Aldrich syndrome and it's effect on megakaryopoiesis

27 September 2017

1 reference

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Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype

27 September 2017

1 reference

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Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

27 September 2017

1 reference

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Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288099

The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome

27 September 2017

1 reference

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A multiinstitutional survey of the Wiskott-Aldrich syndrome.

27 September 2017

1 reference

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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

27 September 2017

1 reference

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The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene

27 September 2017

1 reference

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The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

27 September 2017

1 reference

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The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome

27 September 2017

1 reference

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A novel X-linked combined immunodeficiency disease

27 September 2017

1 reference

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An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

27 September 2017

1 reference

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Successful treatment of autoimmune enteropathy with cyclosporine

29 November 2018

1 reference

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Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

29 November 2018

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12 December 2020

Familial occurrence of renal and intestinal disease associated with tissue autoantibodies

1 reference

12 December 2020

Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance

1 reference

12 December 2020

Autoimmune enteropathy and nephropathy with circulating anti-epithelial cell antibodies

1 reference

12 December 2020

Identifiers

DOI

10.1086/302761

1 reference

release_vldcsrrekberdkdklgexm5n32u

5 July 2017

Fatcat ID

0 references

PMC publication ID

1288099

1 reference

5 July 2017

1 reference