Rodriguez-Revenga L - Search Results

1

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

Alvarez-Mora MI, Podlesniy P, Gelpi E, Hukema R, Madrigal I, Pagonabarraga J, Trullas R, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Genes Brain Behav. 2019 Jun;18(5):e12565. doi: 10.1111/gbb.12565. Epub 2019 May 24. Genes Brain Behav. 2019. PMID: 30887649 Free article.

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. Clin Genet. 2004 Jan;65(1):17-23. doi: 10.1111/j..2004.00167.x. Clin Genet. 2004. PMID: 15032970

3

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. Mol Hum Reprod. 2004 Oct;10(10):773-6. doi: 10.1093/molehr/gah102. Epub 2004 Aug 20. Mol Hum Reprod. 2004. PMID: 15322225

4

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. Arch Dermatol. 2004 Sep;140(9):1135-9. doi: 10.1001/archderm.140.9.1135. Arch Dermatol. 2004. PMID: 15381555 Review.

5

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. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059

6

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. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. doi: 10.1007/s00246-005-0885-8. Pediatr Cardiol. 2005. PMID: 15990952

7

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. Eur J Hum Genet. 2006 May;14(5):583-6. doi: 10.1038/sj.ejhg.5201608. Eur J Hum Genet. 2006. PMID: 16538222

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. 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. 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

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. Rodriguez-Revenga L, et al. Genet Med. 2007 Sep;9(9):600-6. doi: 10.1097/gim.0b013e318149e1e3. Genet Med. 2007. PMID: 17873648 Free article. Review.

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

89 results

Search Page

Filters