Rodríguez-Revenga L - Search Results

1

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: rodriguez revenga l. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.

2

The fine-scale and complex architecture of human copy-number variation.

Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. Perry GH, et al. Am J Hum Genet. 2008 Mar;82(3):685-95. doi: 10.1016/j.ajhg.2007.12.010. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18304495 Free PMC article.

3

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.

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

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.

6

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

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

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

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.

10

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

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