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Items: 1 to 20 of 74

1.

Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.

Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, Song WX, Zhao XD.

Pediatr Blood Cancer. 2015 Sep;62(9):1601-8. doi: 10.1002/pbc.25559.

PMID:
25931402
2.

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.

Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M.

JAMA. 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253.

3.

The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study.

Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD.

Eur J Pediatr. 2015 Oct;174(10):1311-8. doi: 10.1007/s00431-015-2527-3.

PMID:
25877044
4.

In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.

Xie JW, Zhang ZY, Wu JF, Liu DW, Liu W, Zhao Y, Jiang LP, Tang XM, Wang M, Zhao XD.

Hum Immunol. 2015 Jun;76(6):406-13. doi: 10.1016/j.humimm.2015.04.001.

PMID:
25862925
5.

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. doi: 10.1159/000370059.

PMID:
25633059
6.

Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.

Buchbinder D, Nugent DJ, Fillipovich AH.

Appl Clin Genet. 2014 Apr 3;7:55-66. doi: 10.2147/TACG.S58444. Review.

7.

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.

Hauck F, Klein C.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):596-606. doi: 10.1097/ACI.0000000000000014. Review.

PMID:
24145314
8.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants..

J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052.

9.

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y.

J Clin Immunol. 2013 Oct;33(7):1150-5. doi: 10.1007/s10875-013-9927-9.

PMID:
23943155
10.

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, Dionisio F, Calabria A, Giannelli S, Castiello MC, Bosticardo M, Evangelio C, Assanelli A, Casiraghi M, Di Nunzio S, Callegaro L, Benati C, Rizzardi P, Pellin D, Di Serio C, Schmidt M, Von Kalle C, Gardner J, Mehta N, Neduva V, Dow DJ, Galy A, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, Galimberti S, Valsecchi MG, Biffi A, Montini E, Villa A, Ciceri F, Roncarolo MG, Naldini L.

Science. 2013 Aug 23;341(6148):1233151. doi: 10.1126/science.1233151.

11.

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.

Daza-Cajigal V, Martínez-Pomar N, Garcia-Alonso A, Heine-Suñer D, Torres S, Vega AK, Molina IJ, Matamoros N.

Blood Cells Mol Dis. 2013 Aug;51(2):125-9. doi: 10.1016/j.bcmd.2013.04.004.

PMID:
23689198
12.

Wiskott-Aldrich syndrome: a comprehensive review.

Massaad MJ, Ramesh N, Geha RS.

Ann N Y Acad Sci. 2013 May;1285:26-43. doi: 10.1111/nyas.12049. Review.

PMID:
23527602
13.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS.; COMMITTEE ON GENETICS, AND.; AMERICAN COLLEGE OF MEDICAL GENETICS AND.; GENOMICS SOCIAL.; ETHICAL.; LEGAL ISSUES COMMITTEE..

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680.

14.

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A.

Blood. 2013 Feb 28;121(9):1510-6. doi: 10.1182/blood-2012-08-448118.

15.

Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.

Catucci M, Castiello MC, Pala F, Bosticardo M, Villa A.

Front Immunol. 2012 Jul 18;3:209. doi: 10.3389/fimmu.2012.00209.

16.

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR, Kim MO, Li D, Bleesing JJ, Harris R, Mehta P, Jodele S, Jordan MB, Marsh RA, Davies SM, Filipovich AH.

Bone Marrow Transplant. 2012 Nov;47(11):1428-35. doi: 10.1038/bmt.2012.31.

PMID:
22426750
17.

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S.

J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896.

18.

Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?

Buchbinder D, Nadeau K, Nugent D.

J Clin Immunol. 2011 Oct;31(5):773-7. doi: 10.1007/s10875-011-9561-3.

PMID:
21710275
19.

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study.

Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD.

Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376.

20.

Malignancies after hematopoietic cell transplantation for primary immune deficiencies: a report from the Center for International Blood and Marrow Transplant Research.

Kamani NR, Kumar S, Hassebroek A, Eapen M, LeRademacher J, Casper J, Cowan M, Sánchez de Toledo J, Ferster A, Szabolcs P, Wingard JR, Horwitz E, Filipovich AH.

Biol Blood Marrow Transplant. 2011 Dec;17(12):1783-9. doi: 10.1016/j.bbmt.2011.05.008.

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