Tizzano EF - Search Results

1

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: tizzano ef. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000

2

Should gamete donors be tested for spinal muscular atrophy?

Tizzano EF, Cuscó I, Barceló MJ, Parra J, Baiget M. Tizzano EF, et al. Fertil Steril. 2002 Feb;77(2):409-11. doi: 10.1016/s0015-0282(01)02994-6. Fertil Steril. 2002. PMID: 11821106 Free article.

3

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.

Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF. Gamez J, et al. Among authors: tizzano ef. Neurology. 2002 Nov 12;59(9):1456-60. doi: 10.1212/01.wnl.0000032496.64510.4e. Neurology. 2002. PMID: 12427907

4

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

Cuscó I, Barceló MJ, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2002 Dec;20(6):452-9. doi: 10.1002/humu.10144. Hum Mutat. 2002. PMID: 12442269

5

Prenatal diagnosis for risk of spinal muscular atrophy.

Cuscó I, Barceló MJ, Soler C, Parra J, Baiget M, Tizzano E. Cuscó I, et al. BJOG. 2002 Nov;109(11):1244-9. BJOG. 2002. PMID: 12452462

6

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2003 Aug;22(2):136-43. doi: 10.1002/humu.10245. Hum Mutat. 2003. PMID: 12872254

7

Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

Cuscó I, Barceló MJ, del Río E, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Neurology. 2004 Jul 13;63(1):146-9. doi: 10.1212/01.wnl.0000132634.48815.13. Neurology. 2004. PMID: 15249625

8

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

Soler-Botija C, Cuscó I, Caselles L, López E, Baiget M, Tizzano EF. Soler-Botija C, et al. Among authors: tizzano ef. J Neuropathol Exp Neurol. 2005 Mar;64(3):215-23. doi: 10.1093/jnen/64.3.215. J Neuropathol Exp Neurol. 2005. PMID: 15804053

9

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. Plaja A, et al. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Cytogenet Genome Res. 2015. PMID: 26382598

10

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Valenzuela I, Fernández-Alvarez P, Munell F, Sanchez-Montanez A, Giralt G, Vendrell T, Tizzano EF. Valenzuela I, et al. Among authors: tizzano ef. Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24. Eur J Med Genet. 2017. PMID: 28344185 Review.

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