Milà M - Search Results

1

Analysis of CGG variation through 642 meioses in Fragile X families.

Rifé M, Badenas C, Quintó L, Puigoriol E, Tazón B, Rodriguez-Revenga L, Jiménez L, Sánchez A, Milà M. Rifé M, et al. Among authors: mila m. Mol Hum Reprod. 2004 Oct;10(10):773-6. doi: 10.1093/molehr/gah102. Epub 2004 Aug 20. Mol Hum Reprod. 2004. PMID: 15322225

2

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

3

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

4

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

5

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

6

Pilot study for the neonatal screening of fragile X syndrome.

Rifé M, Mallolas J, Badenas C, Tazón B, Miguélez MR, Pàmpols T, Sànchez A, Milà M. Rifé M, et al. Among authors: mila m. Prenat Diagn. 2002 Jun;22(6):459-62. doi: 10.1002/pd.346. Prenat Diagn. 2002. PMID: 12116303

7

Incidence of fragile X in 5,000 consecutive newborn males.

Rifé M, Badenas C, Mallolas J, Jiménez L, Cervera R, Maya A, Glover G, Rivera F, Milà M. Rifé M, et al. Among authors: mila m. Genet Test. 2003 Winter;7(4):339-43. doi: 10.1089/109065703322783725. Genet Test. 2003. PMID: 15000813

8

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

Xunclà M, Badenas C, Domínguez M, Rodríguez-Revenga L, Madrigal I, Jiménez L, Soler A, Borrell A, Sánchez A, Milà M. Xunclà M, et al. Among authors: mila m. Reprod Biomed Online. 2010 Oct;21(4):560-5. doi: 10.1016/j.rbmo.2010.05.015. Epub 2010 Jun 16. Reprod Biomed Online. 2010. PMID: 20801083

9

46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.

Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059

10

A novel mutation in JARID1C gene associated with mental retardation.

Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Milà M. Santos C, et al. Among authors: mila m. Eur J Hum Genet. 2006 May;14(5):583-6. doi: 10.1038/sj.ejhg.5201608. Eur J Hum Genet. 2006. PMID: 16538222

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