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Fragile X syndrome: An overview and update of the FMR1 gene.
Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Mila M, et al. Among authors: madrigal i. Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.
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: madrigal i. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059
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: madrigal i. Eur J Hum Genet. 2006 May;14(5):583-6. doi: 10.1038/sj.ejhg.5201608. Eur J Hum Genet. 2006. PMID: 16538222
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
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: madrigal i. 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
Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation.
Morales C, Soler A, Margarit E, Madrigal I, Sánchez A. Morales C, et al. Among authors: madrigal i. Am J Med Genet A. 2007 Oct 15;143A(20):2423-9. doi: 10.1002/ajmg.a.31777. Am J Med Genet A. 2007. PMID: 17853459
Deletion of the OPHN1 gene detected by aCGH.
Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Milà M. Madrigal I, et al. J Intellect Disabil Res. 2008 Mar;52(Pt 3):190-4. doi: 10.1111/j.1365-2788.2007.00997.x. J Intellect Disabil Res. 2008. PMID: 18261018
Screening for FXTAS in 95 Spanish patients negative for Huntington disease.
Rodriguez-Revenga L, Santos MM, Sánchez A, Pujol M, Gómez-Anson B, Badenas C, Jiménez D, Madrigal I, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Genet Test. 2008 Mar;12(1):135-8. doi: 10.1089/gte.2007.0074. Genet Test. 2008. PMID: 18373410
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: madrigal i. Psychiatr Genet. 2008 Aug;18(4):153-5. doi: 10.1097/YPG.0b013e3282f97e0b. Psychiatr Genet. 2008. PMID: 18628675
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: madrigal i. 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.
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