Castellví-Bel S - Search Results

1

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

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

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P. Gasparini P, et al. Eur J Hum Genet. 1997 Mar-Apr;5(2):83-8. Eur J Hum Genet. 1997. PMID: 9195157

9

[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.

10

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

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