scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1047410225 |
P356 | DOI | 10.1007/S10875-007-9121-Z |
P698 | PubMed publication ID | 17690954 |
P2093 | author name string | David L Nelson | |
Fabio Candotti | |||
Donn M Stewart | |||
P2860 | cites work | Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease | Q28143064 |
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia | Q28202460 | ||
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion | Q28303984 | ||
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation | Q30630015 | ||
Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations. | Q33329794 | ||
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation | Q33361928 | ||
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene | Q33488546 | ||
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings | Q34984944 | ||
Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome | Q35848382 | ||
Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. | Q37111771 | ||
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect | Q40304312 | ||
Self-induced correction of the genetic defect in tyrosinemia type I | Q40341120 | ||
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome | Q40714972 | ||
T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. | Q45866838 | ||
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. | Q47606166 | ||
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. | Q54028385 | ||
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism | Q57436562 | ||
Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells | Q63859659 | ||
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency | Q71167703 | ||
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance | Q73629570 | ||
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 | Q75272845 | ||
Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers | Q77361936 | ||
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1 | Q79631492 | ||
P433 | issue | 6 | |
P921 | main subject | Wiskott-Aldrich syndrome | Q953638 |
P304 | page(s) | 634-639 | |
P577 | publication date | 2007-08-10 | |
P1433 | published in | Journal of Clinical Immunology | Q6294961 |
P1476 | title | 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 | |
P478 | volume | 27 |
Q36101320 | Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma |
Q45873782 | Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. |
Q33383530 | Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models |
Q33378512 | Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome |
Q35946132 | Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. |
Q33389727 | Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment |
Q34400271 | Induced pluripotent stem cells in dermatology: potentials, advances, and limitations |
Q38191164 | Laboratory diagnosis of primary immunodeficiencies |
Q28741264 | Revertant mosaicism in skin: natural gene therapy |
Q83158779 | Revertant somatic mosaicism in the Wiskott-Aldrich syndrome |
Q38364694 | Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome |
Q92667865 | Somatic genetic rescue in Mendelian haematopoietic diseases |
Q36969817 | WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function |
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