Castellvi-Bel S - Search Results

1

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Brea-Fernández AJ, Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C. Brea-Fernández AJ, et al. Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23837913

2

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

Castellví-Bel S, Matilla T, Banchs MI, Kruyer H, Corral J, Milà M, Estivill X. Castellví-Bel S, et al. J Med Genet. 1994 Aug;31(8):654-5. doi: 10.1136/jmg.31.8.654. J Med Genet. 1994. PMID: 7815428 Free PMC article.

3

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez MD, Estivill X. Castellví-Bel S, et al. Prenat Diagn. 1995 Sep;15(9):801-7. doi: 10.1002/pd.1970150903. Prenat Diagn. 1995. PMID: 8559749

4

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X. Milà M, et al. J Med Genet. 1996 Apr;33(4):338-40. doi: 10.1136/jmg.33.4.338. J Med Genet. 1996. PMID: 8730293 Free PMC article.

5

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

Milà M, Castellví-Bel S, Giné R, Vazquez C, Badenas C, Sánchez A, Estivill X. Milà M, et al. Hum Genet. 1996 Oct;98(4):419-21. doi: 10.1007/s004390050232. Hum Genet. 1996. PMID: 8792815

6

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.

Sánchez A, Castellví-Bel S, Milà M, Genis D, Calopa M, Jiménez D, Estivill X. Sánchez A, et al. J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):625-7. doi: 10.1136/jnnp.61.6.625. J Neurol Neurosurg Psychiatry. 1996. PMID: 8971113 Free PMC article.

7

Maternal transmission in sporadic Huntington's disease.

Sánchez A, Milà M, Castellví-Bel S, Rosich M, Jiménez D, Badenas C, Estivill X. Sánchez A, et al. J Neurol Neurosurg Psychiatry. 1997 May;62(5):535-7. doi: 10.1136/jnnp.62.5.535. J Neurol Neurosurg Psychiatry. 1997. PMID: 9153618 Free PMC article.

8

[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis].

Sánchez A, Milà M, Castellví-Bel S, Calopa M, Genís D, Jiménez D, Estivill X. Sánchez A, et al. Med Clin (Barc). 1997 May 10;108(18):687-90. Med Clin (Barc). 1997. PMID: 9324583 Spanish.

9

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.

Milà M, Sànchez A, Badenas C, Brun C, Jiménez D, Villa MP, Castellví-Bel S, Estivill X. Milà M, et al. Hum Genet. 1997 Oct;100(5-6):503-7. doi: 10.1007/s004390050542. Hum Genet. 1997. PMID: 9341861

10

Single-strand conformation polymorphism analysis in the FMR1 gene.

Castellví-Bel S, Sánchez A, Badenas C, Mallolas J, Barceló A, Jiménez D, Villa M, Estivill X, Milà M. Castellví-Bel S, et al. Am J Med Genet. 1999 May 28;84(3):262-5. Am J Med Genet. 1999. PMID: 10331603

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