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Items: 1 to 20 of 281

1.

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
2.

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
3.

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Bourne HC, Weston S, Prasad M, Edkins E, Benson EM.

Pathology. 2004 Jun;36(3):262-4.

PMID:
15203732
4.

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

Greer WL, Shehabeldin A, Schulman J, Junker A, Siminovitch KA.

Hum Genet. 1996 Dec;98(6):685-90.

PMID:
8931701
5.

Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Itoh S, Nonoyama S, Morio T, Imai K, Okawa H, Ochs HD, Shimadzu M, Yata J.

Int J Hematol. 2000 Jan;71(1):79-83.

PMID:
10729999
6.

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

Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A.

Hum Genet. 1996 Jul;98(1):68-76.

PMID:
8682510
8.

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

Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD.

Blood. 1997 Oct 1;90(7):2680-9.

9.

Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.

MacCarthy-Morrogh L, Gaspar HB, Wang YC, Katz F, Thompson L, Layton M, Jones AM, Kinnon C.

Clin Immunol Immunopathol. 1998 Jul;88(1):22-7.

PMID:
9683546
10.

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.

Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ.

Hum Mutat. 2000 Apr;15(4):386-7.

PMID:
10737997
11.

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W, Gilmour KC, Heath S, Ashton E, Cranston T, Thomas A, Finn A, Davies EG, Thrasher AJ, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Jun;113(4):861-5.

PMID:
11442475
12.

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD.

Blood. 2002 Mar 15;99(6):2268-9.

13.

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
14.

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

Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD.

Blood. 1995 Nov 15;86(10):3797-804.

15.

Clinical course of patients with WASP gene mutations.

Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S.

Blood. 2004 Jan 15;103(2):456-64. Epub 2003 Sep 11.

16.

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.

17.

Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.

Schwartz M, Békássy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F.

Thromb Haemost. 1996 Apr;75(4):546-50.

PMID:
8743175
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
19.

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.

Chan KW, Lee TL, Chung BH, Yang X, Lau YL.

Hum Mutat. 2002 Aug;20(2):151-2.

PMID:
12124997
20.

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

Fillat C, Español T, Oset M, Ferrando M, Estivill X, Volpini V.

Am J Med Genet. 2001 Apr 22;100(2):116-21.

PMID:
11298372

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