Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

268 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Among authors: bernal s. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF. Bernal S, et al. J Med Genet. 2010 Sep;47(9):640-2. doi: 10.1136/jmg.2010.079004. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577007
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Bernal S, et al. Neuromuscul Disord. 2011 Jun;21(6):413-9. doi: 10.1016/j.nmd.2011.03.009. Epub 2011 May 4. Neuromuscul Disord. 2011. PMID: 21546251
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
Alías L, Bernal S, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Among authors: bernal s. Genet Test Mol Biomarkers. 2011 Sep;15(9):587-94. doi: 10.1089/gtmb.2010.0253. Epub 2011 May 6. Genet Test Mol Biomarkers. 2011. PMID: 21548796
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.
Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S, Tizzano EF. Parra J, et al. Among authors: bernal s. J Matern Fetal Neonatal Med. 2012 Aug;25(8):1246-9. doi: 10.3109/14767058.2011.636101. Epub 2011 Nov 30. J Matern Fetal Neonatal Med. 2012. PMID: 22082206
268 results