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Items: 1 to 20 of 145

1.
2.

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
3.

Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.

Donnér M, Schwartz M, Carlsson KU, Holmberg L.

Blood. 1988 Dec;72(6):1849-53.

4.

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
5.

X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.

De Saint-Basile G, Schlegel N, Caniglia M, Le Deist F, Kaplan C, Lecompte T, Piller F, Fischer A, Griscelli C.

Ann Hematol. 1991 Aug;63(2):107-10.

PMID:
1912030
6.

X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes.

Stormorken H, Hellum B, Egeland T, Abrahamsen TG, Hovig T.

Thromb Haemost. 1991 Mar 4;65(3):300-5.

PMID:
2048054
7.

Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome.

Canales ML, Mauer AM.

N Engl J Med. 1967 Oct 26;277(17):899-901. No abstract available.

PMID:
4168739
8.

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
9.

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
10.

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
11.

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.

12.

Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype.

Linder S, Wintergerst U, Bender-Götze C, Schwarz K, Pannicke U, Aepfelbacher M.

Immunol Cell Biol. 2003 Apr;81(2):130-6.

13.

IgA nephropathy associated with X-linked thrombocytopenia.

Matsukura H, Kanegane H, Miya K, Ohtsubo K, Higuchi A, Tanizawa T, Miyawaki T.

Am J Kidney Dis. 2004 Mar;43(3):e7-12.

PMID:
14981635
14.

A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.

Patel PD, Samanich JM, Mitchell WB, Manwani D.

Pediatr Blood Cancer. 2011 Jul 1;56(7):1127-9. doi: 10.1002/pbc.22920. Epub 2011 Feb 10.

PMID:
21488158
15.

Wiskott-Aldrich syndrome: report of an autosomal dominant variant.

Rocca B, Bellacosa A, De Cristofaro R, Neri G, Della Ventura M, Maggiano N, Rumi C, Landolfi R.

Blood. 1996 Jun 1;87(11):4538-43.

16.

The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation.

Haddad E, Cramer E, Rivière C, Rameau P, Louache F, Guichard J, Nelson DL, Fischer A, Vainchenker W, Debili N.

Blood. 1999 Jul 15;94(2):509-18.

17.
18.
19.

Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient.

Monteferrante G, Giani M, van den Heuvel M.

Lupus. 2009 Mar;18(3):273-7. doi: 10.1177/0961203308095000.

PMID:
19213869
20.

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

Proust A, Guillet B, Picard C, de Saint Basile G, Pondarré C, Tamary H, Dreyfus M, Tchernia G, Fischer A, Delaunay J.

Blood Cells Mol Dis. 2007 Jul-Aug;39(1):102-6. Epub 2007 Apr 2.

PMID:
17400488

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