Martín Y - Search Results

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: martin y. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931

2

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.

Martín Y, Valero A, del Castillo E, Pascual SI, Hernández-Chico C. Martín Y, et al. Hum Genet. 2002 Mar;110(3):257-63. doi: 10.1007/s00439-002-0681-y. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935338

3

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: martin y. Hum Genet. 2001 Mar;108(3):222-9. doi: 10.1007/s004390000452. Hum Genet. 2001. PMID: 11354634

4

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.

Hernández-Imaz E, Campos B, Rodríguez-Álvarez FJ, Abad O, Melean G, Gardenyes J, Martín Y, Hernández-Chico C. Hernández-Imaz E, et al. Among authors: martin y. Clin Genet. 2013 May;83(5):462-6. doi: 10.1111/j.1399-0004.2012.01952.x. Epub 2012 Sep 10. Clin Genet. 2013. PMID: 22925204

5

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

6

The X-linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy.

Martín Y, Valero A, López-Terradas JM, Marsal C, Hernández-Chico C. Martín Y, et al. Clin Genet. 2000 Feb;57(2):154-6. doi: 10.1034/j.1399-0004.2000.570212.x. Clin Genet. 2000. PMID: 10735639 No abstract available.

7

RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.

Melean G, Velasco A, Hernández-Imaz E, Rodríguez-Álvarez FJ, Martín Y, Valero A, Hernández-Chico C. Melean G, et al. Among authors: martin y. Neurogenetics. 2012 Aug;13(3):267-74. doi: 10.1007/s10048-012-0335-8. Epub 2012 Jul 1. Neurogenetics. 2012. PMID: 22752724

8

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez F, Tellería D, Hernández-Chico C. Valero MC, et al. Among authors: martin y. J Mol Diagn. 2011 Mar;13(2):113-22. doi: 10.1016/j.jmoldx.2010.09.002. J Mol Diagn. 2011. PMID: 21354044 Free PMC article.

9

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

Hernández-Imaz E, Martín Y, de Conti L, Melean G, Valero A, Baralle M, Hernández-Chico C. Hernández-Imaz E, et al. Among authors: martin y. PLoS One. 2015 Oct 28;10(10):e0141735. doi: 10.1371/journal.pone.0141735. eCollection 2015. PLoS One. 2015. PMID: 26509978 Free PMC article.

10

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.

Melean G, Hernández AM, Valero MC, Hernández-Imaz E, Martín Y, Hernández-Chico C. Melean G, et al. Among authors: martin y. BMC Cancer. 2010 Aug 5;10:407. doi: 10.1186/1471-2407-10-407. BMC Cancer. 2010. PMID: 20687928 Free PMC article.

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