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Results: 1 to 20 of 79

Similar articles for PubMed (Select 14228682)

1.

[THE ALDRICH SYNDROME; A CLINICAL AND GENETIC STUDY OF SEVERAL DUTCH FAMILIES].

VAN DEN BOSCH J, DRUKKER J.

Maandschr Kindergeneeskd. 1964 Jul;32:359-73. Dutch. No abstract available.

PMID:
14228682
2.

[WISKOTT-ALDRICH SYNDROME. REPORT OF A CASE].

SANCHEZVILLARES E, MARTINESTEBAN M, DECARLOSCAMPOS AM.

Rev Esp Pediatr. 1963 Sep-Oct;19:603-22. Spanish. No abstract available.

PMID:
14094751
3.

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
4.

[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
5.

[ALDRICH SYNDROME. A REPORT ON 2 CASES].

AMIET A.

Ann Paediatr. 1963;201:315-35. German. No abstract available.

PMID:
14111531
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.

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
8.

Wiskott-Aldrich syndrome.

Notarangelo LD, Miao CH, Ochs HD.

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

PMID:
18043243
10.

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
11.

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
12.

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.

13.

Lentiviral vectors for the treatment of Wiskott-Aldrich syndrome.

Nienhuis AW.

Gene Ther. 2005 Apr;12(7):555-6. No abstract available.

PMID:
18360950
14.

THE TRIAD OF THROMBOCYTOPENIA, ECZEMA AND INFECTION (WISKOTT-ADLRICH'S SYNDROME).

LANZKOWSKY P, LEVY S.

S Afr Med J. 1965 Apr 10;39:280-2. No abstract available.

PMID:
14286613
15.

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
16.

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.

Ochs HD.

Immunol Res. 2009;44(1-3):84-8. doi: 10.1007/s12026-008-8084-3. Review.

PMID:
19082760
17.

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.

18.

[Molecular pathogenesis of Wiskott-Aldrich syndrome].

Sasahara Y, Tsuchiya S.

Nihon Rinsho Meneki Gakkai Kaishi. 2005 Jun;28(3):140-7. Review. Japanese.

19.

An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome.

Conley ME, Saragoussi D, Notarangelo L, Etzioni A, Casanova JL; PAGID; ESID.

Clin Immunol. 2003 Dec;109(3):272-7.

PMID:
14697741
20.

Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.

Proust A, Guillet B, Pellier I, Rachieru P, Hoarau C, Claeyssens S, Léonard C, Charrier S, Vainchenker W, Tchernia G, Delaunay J.

Eur J Haematol. 2005 Jul;75(1):54-9.

PMID:
15946311
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