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Items: 1 to 20 of 149

1.

The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease.

Vermi W, Blanzuoli L, Kraus MD, Grigolato P, Donato F, Loffredo G, Marino CE, Alberti D, Notarangelo LD, Facchetti F.

Am J Surg Pathol. 1999 Feb;23(2):182-91.

PMID:
9989845
2.

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
3.

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.

Lee WI, Yang CY, Jaing TH, Huang JL, Chien YH, Chang KW.

Int Arch Allergy Immunol. 2008;145(1):15-23. Epub 2007 Aug 16.

PMID:
17703096
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.

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.

PMID:
12631236
6.

Structure and function of the Wiskott-Aldrich syndrome protein.

Ochs HD, Notarangelo LD.

Curr Opin Hematol. 2005 Jul;12(4):284-91. Review.

PMID:
15928485
7.

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.

8.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

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

PMID:
18043243
9.

A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.

Doğu F, Ariga T, Ikincioğullari A, Bozdoğan G, Aytekin C, Metin A, Babacan E.

Turk J Pediatr. 2006 Jan-Mar;48(1):66-8.

PMID:
16562789
10.

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.

11.

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
12.

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

El-Hakeh J, Rosenzweig S, Oleastro M, Basack N, Berozdnik L, Molina F, Rivas EM, Zelazko M, Danielian S.

Hum Mutat. 2002 Feb;19(2):186-7.

PMID:
11793485
13.

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
14.

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

Imai K, Nonoyama S, Ochs HD.

Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):427-36. Review.

PMID:
14612666
15.

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.

16.

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
17.

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA.

J Pediatr. 1994 Dec;125(6 Pt 1):876-85.

PMID:
7996359
18.

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
19.

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome.

Ariga T, Kondoh T, Yamaguchi K, Yamada M, Sasaki S, Nelson DL, Ikeda H, Kobayashi K, Moriuchi H, Sakiyama Y.

J Immunol. 2001 Apr 15;166(8):5245-9.

20.

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

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