Milà M - Search Results

1

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.

Milà M, Kruyer H, Glover G, Sánchez A, Carbonell P, Castellví-Bell S, Volpini V, Rossell J, Gabarrón J, López I, et al. Milà M, et al. Hum Genet. 1994 Oct;94(4):395-400. doi: 10.1007/BF00201600. Hum Genet. 1994. PMID: 7927336

2

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

Kruyer H, Milà M, Glover G, Carbonell P, Ballesta F, Estivill X. Kruyer H, et al. Among authors: mila m. Am J Hum Genet. 1994 Mar;54(3):437-42. Am J Hum Genet. 1994. PMID: 8116613 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. Among authors: mila m. 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

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

7

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

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. Among authors: mila m. Med Clin (Barc). 1997 May 10;108(18):687-90. Med Clin (Barc). 1997. PMID: 9324583 Spanish.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

191 results

Search Page

Filters