Rodriguez-Revenga L - Search Results

1

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

2

Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology.

Rodriguez-Revenga L, Alvarez-Mora MI. Rodriguez-Revenga L, et al. Genes (Basel). 2022 Nov 2;13(11):2008. doi: 10.3390/genes13112008. Genes (Basel). 2022. PMID: 36360245 Free PMC article.

3

Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.

Elias-Mas A, Wang JY, Rodríguez-Revenga L, Kim K, Tassone F, Hessl D, Rivera SM, Hagerman R. Elias-Mas A, et al. Among authors: rodriguez revenga l. J Neurol Sci. 2024 Jun 15;461:123056. doi: 10.1016/j.jns.2024.123056. Epub 2024 May 17. J Neurol Sci. 2024. PMID: 38772058

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

5

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

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

8

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

9

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. Clin Genet. 2006 Aug;70(2):140-4. doi: 10.1111/j.1399-0004.2006.00647.x. Clin Genet. 2006. PMID: 16879196

10

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.

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

90 results

Search Page

Filters