Tizzano E - Search Results

1

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: tizzano e. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.

2

DMD carrier detection in a female with mosaic Turner's syndrome.

Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T, Gallano P. Baiget M, et al. Among authors: tizzano e. J Med Genet. 1991 Mar;28(3):209-10. doi: 10.1136/jmg.28.3.209. J Med Genet. 1991. PMID: 2051460 Free PMC article. No abstract available.

3

Severe mental retardation in a young boy with an in-frame deletion in the dystrophin gene.

Colomer J, Gallano P, Nicholson LV, Tizzano E, Baiget M. Colomer J, et al. Among authors: tizzano e. Eur J Pediatr. 1994 Jul;153(7):492-4. doi: 10.1007/BF01957003. Eur J Pediatr. 1994. PMID: 7957365

4

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.

5

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. Hum Mutat. 2002 Dec;20(6):452-9. doi: 10.1002/humu.10144. Hum Mutat. 2002. PMID: 12442269

6

Prenatal diagnosis for risk of spinal muscular atrophy.

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

7

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

8

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

9

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

10

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. J Neurol. 2006 Jan;253(1):21-5. doi: 10.1007/s00415-005-0912-y. Epub 2005 Jun 28. J Neurol. 2006. PMID: 15981080

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

163 results

Search Page