Milà M - Search Results

1

Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles.

Castellví-Bel S, Fernández-Burriel M, Rifé M, Jiménez D, Mallolas J, Sánchez A, Ramos F, Milà M. Castellví-Bel S, et al. Among authors: mila m. Hum Genet. 2000 Aug;107(2):195-6. doi: 10.1007/s004390000349. Hum Genet. 2000. PMID: 11030419

2

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. Among authors: mila m. Prenat Diagn. 1995 Sep;15(9):801-7. doi: 10.1002/pd.1970150903. Prenat Diagn. 1995. PMID: 8559749

3

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.

4

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

5

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

6

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. Among authors: mila m. Am J Med Genet. 1999 May 28;84(3):262-5. Am J Med Genet. 1999. PMID: 10331603

7

Rare variants in the promoter of the fragile X syndrome gene (FMR1).

Milà M, Castellví-Bel S, Sánchez A, Barceló A, Badenas C, Mallolas J, Estivill X. Milà M, et al. Mol Cell Probes. 2000 Apr;14(2):115-9. doi: 10.1006/mcpr.2000.0293. Mol Cell Probes. 2000. PMID: 10799273

8

Genes responsible for nonspecific mental retardation.

Castellví-Bel S, Milà M. Castellví-Bel S, et al. Among authors: mila m. Mol Genet Metab. 2001 Feb;72(2):104-8. doi: 10.1006/mgme.2000.3128. Mol Genet Metab. 2001. PMID: 11161835 Review.

9

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

Badenas C, Castellví-Bel S, Volpini V, Jiménez D, Sánchez A, Estivill X, Milà M. Badenas C, et al. Among authors: mila m. Am J Med Genet. 2001 Feb 1;98(4):343-7. doi: 10.1002/1096-8628(20010201)98:4<343::aid-ajmg1107>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11170079

10

Implications of the FMR1 gene in menopause: study of 147 Spanish women.

Mallolas J, Duran M, Sánchez A, Jiménez D, Castellví-Bel S, Rifé M, Milà M. Mallolas J, et al. Among authors: mila m. Menopause. 2001 Summer;8(2):106-10. doi: 10.1097/00042192-200103000-00005. Menopause. 2001. PMID: 11256870

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