149 related articles for article (PubMed ID: 8682510)
21. A novel protocol to identify mutations in patients with wiskott-Aldrich syndrome.
Jones LN; Lutskiy MI; Cooley J; Kenney DM; Rosen FS; Remold-O'Donnell E
Blood Cells Mol Dis; 2002; 28(3):392-8. PubMed ID: 12367583
[TBL] [Abstract][Full Text] [Related]
22. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome.
Sasahara Y; Kawai S; Kumaki S; Ohashi Y; Minegishi M; Tsuchiya S
Eur J Pediatr; 2000; 159(1-2):23-30. PubMed ID: 10653325
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 9683546
[TBL] [Abstract][Full Text] [Related]
24. 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. PubMed ID: 8743175
[TBL] [Abstract][Full Text] [Related]
25. Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6.
Takimoto T; Takada H; Ishimura M; Kirino M; Hata K; Ohara O; Morio T; Hara T
Neonatology; 2015; 107(3):185-90. PubMed ID: 25633059
[TBL] [Abstract][Full Text] [Related]
26. Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
Kwan SP; Hagemann TL; Blaese RM; Knutsen A; Rosen FS
Hum Mol Genet; 1995 Oct; 4(10):1995-8. PubMed ID: 8595430
[No Abstract] [Full Text] [Related]
27. The genotype of the original Wiskott phenotype.
Binder V; Albert MH; Kabus M; Bertone M; Meindl A; Belohradsky BH
N Engl J Med; 2006 Oct; 355(17):1790-3. PubMed ID: 17065640
[TBL] [Abstract][Full Text] [Related]
28. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
Wengler GS; Notarangelo LD; Berardelli S; Pollonni G; Mella P; Fasth A; Ugazio AG; Parolini O
Blood; 1995 Nov; 86(10):3648-54. PubMed ID: 7579329
[TBL] [Abstract][Full Text] [Related]
29. Molecular biology of the Wiskott-Aldrich syndrome.
Rengan R; Ochs HD
Rev Immunogenet; 2000; 2(2):243-55. PubMed ID: 11258421
[TBL] [Abstract][Full Text] [Related]
30. A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome.
Yu H; Liu T; Meng W; Hou L
Int J Hematol; 2010 Sep; 92(2):271-5. PubMed ID: 20683686
[TBL] [Abstract][Full Text] [Related]
31. 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
Nat Genet; 1995 Apr; 9(4):414-7. PubMed ID: 7795648
[TBL] [Abstract][Full Text] [Related]
32. 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; 86(10):3797-804. PubMed ID: 7579347
[TBL] [Abstract][Full Text] [Related]
33. 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. PubMed ID: 18162713
[TBL] [Abstract][Full Text] [Related]
34. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V; Freiberger T; Shcherbina A; Pac M; Chernyshova L; Avcin T; Kondratenko I; Kostyuchenko L; Prokofjeva T; Pasic S; Bernatowska E; Kutukculer N; Rascon J; Iagaru N; Mazza C; Tóth B; Erdos M; van der Burg M; Maródi L;
Mol Immunol; 2011 Feb; 48(5):788-92. PubMed ID: 21185603
[TBL] [Abstract][Full Text] [Related]
35. Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.
Baharin MF; Kader Ibrahim SB; Yap SH; Abdul Manaf AM; Mat Ripen A; Dhaliwal JS
Malays J Pathol; 2015 Aug; 37(2):153-8. PubMed ID: 26277674
[TBL] [Abstract][Full Text] [Related]
36. 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; 39(1):102-6. PubMed ID: 17400488
[TBL] [Abstract][Full Text] [Related]
37. 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; 92(10):4706-10. PubMed ID: 7753869
[TBL] [Abstract][Full Text] [Related]
38. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
Stewart DM; Tian L; Nelson DL
J Immunol; 1999 Apr; 162(8):5019-24. PubMed ID: 10202051
[TBL] [Abstract][Full Text] [Related]
39. Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.
Jo EK; Futatani T; Kanegane H; Kubota T; Lee YH; Jung JA; Song CH; Park JK; Nonoyama S; Miyawaki T
Int J Hematol; 2003 Jul; 78(1):40-4. PubMed ID: 12894849
[TBL] [Abstract][Full Text] [Related]
40. Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
Safaei S; Fazlollahi MR; Houshmand M; Hamidieh AA; Bemanian MH; Alavi S; Mousavi F; Pourpak Z; Moin M
Iran J Allergy Asthma Immunol; 2012 Dec; 11(4):345-8. PubMed ID: 23264413
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
