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Results: 1 to 20 of 183

1.

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Thompson LJ, Lalloz MR, Layton DM.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):218-26.

PMID:
10575547
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
7579347
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

de Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A.

J Pediatr. 1996 Jul;129(1):56-62.

PMID:
8757563
[PubMed - indexed for MEDLINE]
11.

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

Lemahieu V, Gastier JM, Francke U.

Hum Mutat. 1999;14(1):54-66.

PMID:
10447259
[PubMed - indexed for MEDLINE]
12.

[Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].

Jiang LP, Xu YH, Yang XQ, Liu EM, Wang LJ, Lau YL, Chan KW.

Zhonghua Er Ke Za Zhi. 2003 Aug;41(8):590-3. Chinese.

PMID:
14744380
[PubMed - indexed for MEDLINE]
13.

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al.

Nat Genet. 1995 Apr;9(4):414-7.

PMID:
7795648
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
9326235
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
17.

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ, Yoo EH, Ki CS, Yoo GH, Koo HH, Kim JW, Kim SH.

Int J Hematol. 2006 Jun;83(5):426-8.

PMID:
16787874
[PubMed - indexed for MEDLINE]
18.

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

Kwan SP, Hagemann TL, Radtke BE, Blaese RM, Rosen FS.

Proc Natl Acad Sci U S A. 1995 May 9;92(10):4706-10.

PMID:
7753869
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.

Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK.

J Korean Med Sci. 2007 Dec;22(6):998-1001.

PMID:
18162713
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]

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