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Results: 1 to 20 of 249

1.

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

Wada T, Konno A, Schurman SH, Garabedian EK, Anderson SM, Kirby M, Nelson DL, Candotti F.

J Clin Invest. 2003 May;111(9):1389-97.

PMID:
12727931
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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

Wada T, Schurman SH, Otsu M, Garabedian EK, Ochs HD, Nelson DL, Candotti F.

Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8697-702. Epub 2001 Jul 10.

PMID:
11447283
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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

Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, Kawai S, Minegishi M, Ramesh N, Geha RS, Sasahara Y, Tsuchiya S.

Hum Mutat. 2006 Apr;27(4):370-5.

PMID:
16511828
[PubMed - indexed for MEDLINE]
4.

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

Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E.

Blood. 2005 Oct 15;106(8):2815-7. Epub 2005 Jun 28.

PMID:
15985539
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C.

Clin Genet. 2008 Jul;74(1):68-74. doi: 10.1111/j.1399-0004.2008.01019.x. Epub 2008 May 13.

PMID:
18479478
[PubMed - indexed for MEDLINE]
6.

Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.

Trifari S, Scaramuzza S, Catucci M, Ponzoni M, Mollica L, Chiesa R, Cattaneo F, Lafouresse F, Calvez R, Vermi W, Medicina D, Castiello MC, Marangoni F, Bosticardo M, Doglioni C, Caniglia M, Aiuti A, Villa A, Roncarolo MG, Dupré L.

J Allergy Clin Immunol. 2010 Feb;125(2):439-448.e8. doi: 10.1016/j.jaci.2009.11.034.

PMID:
20159256
[PubMed - indexed for MEDLINE]
7.

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

Wada T, Schurman SH, Jagadeesh GJ, Garabedian EK, Nelson DL, Candotti F.

Blood. 2004 Sep 1;104(5):1270-2. Epub 2004 May 13.

PMID:
15142877
[PubMed - indexed for MEDLINE]
Free Article
8.

[Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].

Jiang LP, Xu YH, Yang XQ, Liu EM, Wang LJ, Lau YL, Chan KW.

Zhonghua Er Ke Za Zhi. 2003 Aug;41(8):590-3. Chinese.

PMID:
14744380
[PubMed - indexed for MEDLINE]
9.

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.

Davis BR, Candotti F.

Immunol Res. 2009;44(1-3):127-31. doi: 10.1007/s12026-008-8091-4.

PMID:
19129986
[PubMed - indexed for MEDLINE]
10.

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI, Rosen FS, Remold-O'Donnell E.

J Immunol. 2005 Jul 15;175(2):1329-36.

PMID:
16002738
[PubMed - indexed for MEDLINE]
Free Article
11.

Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.

Kim MK, Kim ES, Kim DS, Choi IH, Moon T, Yoon CN, Shin JS.

Biochim Biophys Acta. 2004 Oct 14;1690(2):134-40.

PMID:
15469902
[PubMed - indexed for MEDLINE]
Free Article
12.

Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages.

Konno A, Wada T, Schurman SH, Garabedian EK, Kirby M, Anderson SM, Candotti F.

Blood. 2004 Jan 15;103(2):676-8. Epub 2003 Sep 22.

PMID:
14504083
[PubMed - indexed for MEDLINE]
Free Article
13.

Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants.

Davis BR, Yan Q, Bui JH, Felix K, Moratto D, Muul LM, Prokopishyn NL, Blaese RM, Candotti F.

Clin Immunol. 2010 Apr;135(1):72-83. doi: 10.1016/j.clim.2009.12.011. Epub 2010 Feb 2.

PMID:
20123155
[PubMed - indexed for MEDLINE]
14.

Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Davis BR, Dicola MJ, Prokopishyn NL, Rosenberg JB, Moratto D, Muul LM, Candotti F, Michael Blaese R.

Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.

PMID:
18332229
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.

Boztug K, Baumann U, Ballmaier M, Webster D, Sandrock I, Jacobs R, Lion T, Preuner S, Germeshausen M, Hansen G, Welte K, Klein C.

Haematologica. 2007 Mar;92(3):e43-5.

PMID:
17405757
[PubMed - indexed for MEDLINE]
Free Article
16.

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U.

Hum Mol Genet. 1995 Jul;4(7):1127-35.

PMID:
8528199
[PubMed - indexed for MEDLINE]
17.

Studies of the expression of the Wiskott-Aldrich syndrome protein.

Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL.

J Clin Invest. 1996 Jun 1;97(11):2627-34.

PMID:
8647957
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.

Zhang ZY, Xiao HQ, Jiang LP, Zhou Y, Zhao Q, Yu J, Liu W, Yang XQ, Zhao XD.

Pediatr Allergy Immunol. 2010 May;21(3):522-32. doi: 10.1111/j.1399-3038.2010.00996.x.

PMID:
20546529
[PubMed - indexed for MEDLINE]
19.

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

Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD.

Blood. 2004 Dec 15;104(13):4010-9. Epub 2004 Jul 29.

PMID:
15284122
[PubMed - indexed for MEDLINE]
Free Article
20.

Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah AM, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA.

Hum Mol Genet. 1995 Jul;4(7):1119-26.

PMID:
8528198
[PubMed - indexed for MEDLINE]

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