Baiget M - Search Results

1

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: baiget m. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.

2

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P. Juan-Mateu J, et al. Among authors: baiget m. PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25. PLoS One. 2013. PMID: 23536893 Free PMC article.

3

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, Ortez C, Baiget M, Gallano P. Juan-Mateu J, et al. Among authors: baiget m. PLoS One. 2015 Aug 18;10(8):e0135189. doi: 10.1371/journal.pone.0135189. eCollection 2015. PLoS One. 2015. PMID: 26284620 Free PMC article.

4

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, Ferrer I, Olivé M. Alias L, et al. Among authors: baiget m. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006. Neuromuscul Disord. 2004. PMID: 15099591

5

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. Vilchez JJ, et al. Among authors: baiget m. Arch Neurol. 2005 Aug;62(8):1256-9. doi: 10.1001/archneur.62.8.1256. Arch Neurol. 2005. PMID: 16087766

6

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.

7

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E. Garcia-Garcia G, et al. Among authors: baiget m. Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65. Orphanet J Rare Dis. 2011. PMID: 22004887 Free PMC article.

8

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C. Corton M, et al. Among authors: baiget m. Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20. Orphanet J Rare Dis. 2013. PMID: 23379534 Free PMC article.

9

Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.

Tizzano EF, Barceló MJ, Baena M, Cornet M, Venceslá A, Mateo J, Fontcuberta J, Baiget M. Tizzano EF, et al. Among authors: baiget m. Thromb Haemost. 2005 Sep;94(3):661-4. doi: 10.1160/TH05-03-0144. Thromb Haemost. 2005. PMID: 16268486

10

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M, Tizzano EF. Barceló MJ, et al. Among authors: baiget m. Genet Med. 2006 Apr;8(4):259-62. doi: 10.1097/01.gim.0000214319.99550.10. Genet Med. 2006. PMID: 16617248 Free article.

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