Fillat C - Search Results

1

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD. Albert MH, et al. Among authors: fillat c. Blood. 2010 Apr 22;115(16):3231-8. doi: 10.1182/blood-2009-09-239087. Epub 2010 Feb 19. Blood. 2010. PMID: 20173115 Free article.

2

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

Fillat C, Español T, Oset M, Ferrando M, Estivill X, Volpini V. Fillat C, et al. Am J Med Genet. 2001 Apr 22;100(2):116-21. doi: 10.1002/ajmg.1228. Am J Med Genet. 2001. PMID: 11298372

3

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.

Fillat C, Español T, Oset M, Cavieres M, dal Borgo P, Estivill X, Volpini V. Fillat C, et al. Hum Mutat. 2000 May;15(5):487. doi: 10.1002/(SICI)1098-1004(200005)15:5<487::AID-HUMU28>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10790228 No abstract available.

4

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.

Andreu N, Pujol-Moix N, Martinez-Lostao L, Oset M, Muñiz-Diaz E, Estivill X, Volpini V, Fillat C. Andreu N, et al. Among authors: fillat c. Blood Cells Mol Dis. 2003 Nov-Dec;31(3):332-7. doi: 10.1016/s1079-9796(03)00168-2. Blood Cells Mol Dis. 2003. PMID: 14636648

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. Andreu N, et al. Among authors: fillat c. Int J Mol Med. 2007 May;19(5):777-82. Int J Mol Med. 2007. PMID: 17390083

6

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D. Canzonetta C, et al. Among authors: fillat c. Am J Hum Genet. 2008 Sep;83(3):388-400. doi: 10.1016/j.ajhg.2008.08.012. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771760 Free PMC article.

7

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.

Andreu N, Carreras C, Prieto F, Estivill X, Volpini V, Fillat C. Andreu N, et al. Among authors: fillat c. J Hum Genet. 2003;48(11):590-3. doi: 10.1007/s10038-003-0083-6. Epub 2003 Oct 18. J Hum Genet. 2003. PMID: 14566484

8

A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.

Andreu N, García-Rodríguez M, Volpini V, Frecha C, Molina IJ, Fontan G, Fillat C. Andreu N, et al. Among authors: fillat c. J Hum Genet. 2006;51(2):92-97. doi: 10.1007/s10038-005-0328-7. Epub 2005 Dec 22. J Hum Genet. 2006. PMID: 16372137

9

Novel membrane cell projection defects in Wiskott-Aldrich syndrome B cells.

Andreu N, Aran JM, Fillat C. Andreu N, et al. Among authors: fillat c. Int J Mol Med. 2007 Oct;20(4):445-50. Int J Mol Med. 2007. PMID: 17786274

10

Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.

Ortiz-Abalia J, Sahún I, Altafaj X, Andreu N, Estivill X, Dierssen M, Fillat C. Ortiz-Abalia J, et al. Among authors: fillat c. Am J Hum Genet. 2008 Oct;83(4):479-88. doi: 10.1016/j.ajhg.2008.09.010. Am J Hum Genet. 2008. PMID: 18940310 Free PMC article.

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