Madrigal I - 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: madrigal i. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.

2

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: madrigal i. 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.

3

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

4

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M. Madrigal I, et al. BMC Genomics. 2007 Nov 29;8:443. doi: 10.1186/1471-2164-8-443. BMC Genomics. 2007. PMID: 18047645 Free PMC article.

5

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

6

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

Xunclà M, Badenas C, Domínguez M, Rodríguez-Revenga L, Madrigal I, Jiménez L, Soler A, Borrell A, Sánchez A, Milà M. Xunclà M, et al. Among authors: madrigal i. Reprod Biomed Online. 2010 Oct;21(4):560-5. doi: 10.1016/j.rbmo.2010.05.015. Epub 2010 Jun 16. Reprod Biomed Online. 2010. PMID: 20801083

7

Motor and mental dysfunction in mother-daughter transmitted FXTAS.

Rodriguez-Revenga L, Pagonabarraga J, Gómez-Anson B, López-Mourelo O, Madrigal I, Xunclà M, Kulisevsky J, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Neurology. 2010 Oct 12;75(15):1370-6. doi: 10.1212/WNL.0b013e3181f73660. Neurology. 2010. PMID: 20938029

8

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C. To-Figueras J, et al. Among authors: madrigal i. Br J Dermatol. 2011 Sep;165(3):499-505. doi: 10.1111/j.1365-2133.2011.10453.x. Epub 2011 Aug 18. Br J Dermatol. 2011. PMID: 21668429 Free PMC article.

9

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedländer MR, Martí E, Estivill X, Milà M. Alvarez-Mora MI, et al. Among authors: madrigal i. Genes Brain Behav. 2013 Aug;12(6):595-603. doi: 10.1111/gbb.12061. Epub 2013 Jul 24. Genes Brain Behav. 2013. PMID: 23790110 Free article.

10

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Milà M. Alvarez-Mora MI, et al. Among authors: madrigal i. Gene. 2015 Oct 15;571(1):52-7. doi: 10.1016/j.gene.2015.06.039. Epub 2015 Jun 18. Gene. 2015. PMID: 26095811

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