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Items: 1 to 20 of 149

1.

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.

2.

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.

3.

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.

4.

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.

PMID:
18479478
5.

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
6.

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.

7.

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
8.

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.

9.

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.

10.

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
11.

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.

PMID:
20123155
12.

Wiskott-Aldrich syndrome in a female.

Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O'Donnell E.

Blood. 2002 Oct 15;100(8):2763-8.

13.

Wiskott-Aldrich syndrome in a family with Fanconi anemia.

Rohrer J, Ribeiro RC, Auerbach AD, Mirro B, Conley ME.

J Pediatr. 1996 Jul;129(1):50-5.

PMID:
8757562
14.

In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.

Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD.

Hum Immunol. 2015 Jun;76(6):406-13. doi: 10.1016/j.humimm.2015.04.001.

PMID:
25862925
15.

Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome.

Sasahara Y, Kawai S, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S.

Eur J Pediatr. 2000 Jan-Feb;159(1-2):23-30.

PMID:
10653325
16.

Wiskott-Aldrich syndrome in two sisters.

Kondoh T, Matsumoto T, Tsuji Y.

Am J Med Genet. 1997 Apr 18;74(2):218-9. No abstract available.

PMID:
9129730
17.
18.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

Curr Opin Hematol. 2008 Jan;15(1):30-6. Review.

PMID:
18043243
19.

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.

Andreu N, Pujol-Moix N, Martinez-Lostao L, Oset M, Muñiz-Diaz E, Estivill X, Volpini V, Fillat C.

Blood Cells Mol Dis. 2003 Nov-Dec;31(3):332-7.

PMID:
14636648
20.

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N, Matamoros N, Escudero A, Fillat C.

Int J Mol Med. 2007 May;19(5):777-82.

PMID:
17390083
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