Milà M - Search Results

1

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

2

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Eur J Hum Genet. 2009 Oct;17(10):1359-62. doi: 10.1038/ejhg.2009.51. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367323 Free PMC article.

3

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M. Madrigal I, et al. Among authors: mila m. Eur J Hum Genet. 2016 Aug;24(8):1117-23. doi: 10.1038/ejhg.2015.267. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733290 Free PMC article.

4

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

5

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.

6

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Arch Dermatol. 2004 Sep;140(9):1135-9. doi: 10.1001/archderm.140.9.1135. Arch Dermatol. 2004. PMID: 15381555 Review.

7

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

8

Evidence of depressive symptoms in fragile-X syndrome premutated females.

Rodriguez-Revenga L, Madrigal I, Alegret M, Santos M, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Psychiatr Genet. 2008 Aug;18(4):153-5. doi: 10.1097/YPG.0b013e3282f97e0b. Psychiatr Genet. 2008. PMID: 18628675

9

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, Mila M, Pijkels E, Fernandez I, Kohlhase J, Spaich C, Rauch A, Fryns JP, Marynen P, Froyen G. Vandewalle J, et al. Among authors: mila m. Am J Hum Genet. 2009 Dec;85(6):809-22. doi: 10.1016/j.ajhg.2009.10.019. Am J Hum Genet. 2009. PMID: 20004760 Free PMC article.

10

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A. García-Villoria J, et al. Among authors: mila m. Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28. Eur J Hum Genet. 2010. PMID: 20664630 Free PMC article.

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