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Items: 1 to 20 of 97

1.

Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia.

Notarangelo LD, Parolini O, Faustini R, Porteri V, Albertini A, Ugazio AG.

Blood. 1991 Mar 1;77(5):1125-6. No abstract available.

2.

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
3.

Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.

Notarangelo LD, Parolini O, Porta F, Locatelli F, Lanfranchi A, Marconi M, Nespoli L, Albertini A, Craig IW, Ugazio AG.

Hum Genet. 1991 Dec;88(2):237-41.

PMID:
1684569
4.

Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation.

Puck JM, Siminovitch KA, Poncz M, Greenberg CR, Rottem M, Conley ME.

Blood. 1990 Jun 15;75(12):2369-74.

5.

Carrier detection in the Wiskott Aldrich syndrome.

Fearon ER, Kohn DB, Winkelstein JA, Vogelstein B, Blaese RM.

Blood. 1988 Nov;72(5):1735-9.

6.

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
7.

Wiskott-Aldrich syndrome protein and platelets.

Oda A, Ochs HD.

Immunol Rev. 2000 Dec;178:111-7. Review.

PMID:
11213795
8.

X-linked Wiskott-Aldrich syndrome in a girl.

Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W, Holter W.

N Engl J Med. 1998 Jan 29;338(5):291-5. No abstract available.

9.

X-linked Wiskott-Aldrich syndrome in a girl.

Luzzatto L, Martini G.

N Engl J Med. 1998 Jun 18;338(25):1850-1. No abstract available.

PMID:
9634368
10.

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.

11.

X chromosome inactivation patterns in leucocyte populations of female carriers of Wiskott-Aldrich syndrome with an atypical presentation.

de Weers M, Mensink RG, Kraakman ME, Schuurman RK, Hendriks RW.

Immunodeficiency. 1993;4(1-4):267-9. No abstract available.

PMID:
8167716
12.

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
13.
14.

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
15.

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
16.

Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome.

Russell SJ, Nisen PD.

Br J Haematol. 1995 May;90(1):210-2.

PMID:
7786787
17.

Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit.

Mantuano E, Candotti F, Giliani S, Parolini O, Lusardi M, Zucchi M, Lanfranchi A, Porta F, Airò P, Albertini A, et al.

Immunodeficiency. 1993;4(1-4):271-6. No abstract available.

PMID:
8167717
18.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

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

PMID:
18043243
19.

X-linked Wiskott-Aldrich syndrome in a girl.

Cazzola M, Bergamaschi G.

N Engl J Med. 1998 Jun 18;338(25):1850; author reply 1851. No abstract available.

20.

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

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