Milá M - Search Results

1

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M. Tejada MI, et al. Among authors: mila m. Clin Genet. 2006 Aug;70(2):140-4. doi: 10.1111/j.1399-0004.2006.00647.x. Clin Genet. 2006. PMID: 16879196

2

Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features.

Rodriguez-Revenga L, Badenas C, Sánchez A, Mallolas J, Carrió A, Pedrinaci S, Barrionuevo JL, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Clin Genet. 2004 Jan;65(1):17-23. doi: 10.1111/j..2004.00167.x. Clin Genet. 2004. PMID: 15032970

3

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

4

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M. Alvarez-Mora MI, et al. Among authors: mila m. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051

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

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

7

Elastin mutation screening in a group of patients affected by vascular abnormalities.

Rodriguez-Revenga L, Badenas C, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. doi: 10.1007/s00246-005-0885-8. Pediatr Cardiol. 2005. PMID: 15990952

8

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Martinez F, Fernandez I, Fernández-Burriel M, Milà M. Madrigal I, et al. Among authors: mila m. Genet Med. 2007 Feb;9(2):117-22. doi: 10.1097/gim.0b013e318031206e. Genet Med. 2007. PMID: 17304053 Free article.

9

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Am J Med Genet A. 2007 May 1;143A(9):916-20. doi: 10.1002/ajmg.a.31521. Am J Med Genet A. 2007. PMID: 17431911

10

Fragile X syndrome: An overview and update of the FMR1 gene.

Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Mila M, et al. Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.

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