(Q80778553)

English

The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7,

scientific article published on 10 August 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690954%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006 (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690954%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Wiskott-Aldrich syndrome

1 reference

based on heuristic

inferred from title

author name string

Donn M Stewart

1

1 reference

Europe PubMed Central

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3 January 2020

Fabio Candotti

2

1 reference

Europe PubMed Central

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3 January 2020

David L Nelson

3

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Europe PubMed Central

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3 January 2020

publication date

10 August 2007

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Europe PubMed Central

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3 January 2020

Journal of Clinical Immunology

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Europe PubMed Central

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3 January 2020

27

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3 January 2020

6

1 reference

Europe PubMed Central

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3 January 2020

634-639

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17690954%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17690954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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