Milà M - Search Results

1

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.

Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C. Santos M, et al. Among authors: mila m. Am J Med Genet A. 2010 Oct;152A(10):2661-3. doi: 10.1002/ajmg.a.33638. Am J Med Genet A. 2010. PMID: 20814948 No abstract available.

2

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.

Del Rey J, Santos M, González-Meneses A, Milà M, Fuster C. Del Rey J, et al. Among authors: mila m. Cytogenet Genome Res. 2016;148(2-3):156-64. doi: 10.1159/000445859. Epub 2016 May 25. Cytogenet Genome Res. 2016. PMID: 27216161

3

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.

4

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

5

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

6

Paternal transmission of a FMR1 full mutation allele.

Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M. Alvarez-Mora MI, et al. Among authors: mila m. Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815939

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

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.

Madrigal I, Fernández-Burriel M, Rodriguez-Revenga L, Cabrera JC, Martí M, Mur A, Milà M. Madrigal I, et al. Among authors: mila m. J Hum Genet. 2010 Dec;55(12):822-6. doi: 10.1038/jhg.2010.119. Epub 2010 Sep 23. J Hum Genet. 2010. PMID: 20861843

9

[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].

Madrigal I, Rodríguez-Revenga L, Costa L, Xunclà M, Sánchez A, Milà M. Madrigal I, et al. Among authors: mila m. Rev Neurol. 2010 Oct 16;51(8):465-70. Rev Neurol. 2010. PMID: 20925028 Free article. Spanish.

10

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.

Madrigal I, Martinez M, Rodriguez-Revenga L, Carrió A, Milà M. Madrigal I, et al. Among authors: mila m. Am J Med Genet A. 2012 May;158A(5):1071-6. doi: 10.1002/ajmg.a.35287. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488686

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