PROTOCOLO DE ESTUDIO DEL RETRASO MENTAL
Columnista Experta de SIIC Irene Madrigal Bajo
en colaboración con
Rodríguez-Revenga Bodi Laia, Doctor en Biología, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, España; Milà Recasens Montserrat, Doctor en Biología, Hospital Clínic de Barcelona, Barcelona, España
Fecha de aprobación: 4 de noviembre, 2008
Primera edición en siicsalud:
19 de mayo, 2009
Sección Artículos originales,
subsección
Expertos de Iberoamérica,
página
/des/expertocompleto.php/99492
Especialidad principal:
Genética Humana
Pediatría
Especialidades relacionadas:
Bioquímica,Diagnóstico por Laboratorio,Medicina Familiar,Neurología,Salud Mental,
Rodríguez-Revenga L, Madrigal I, Alegret M, Santos M, Milà M. Evidence of depressive symptoms in fragile-X syndrome premutated females., Psychiatr Genet. 18(18):153-155, 2008
Rodríguez-Revenga L, Santos MM, Sánchez A, Pujol M, Gómez-Anson B, Badenas C, Jiménez D, Madrigal I, Milà M. Screening for FXTAS in 95 Spanish patients negative for Huntington disease., Genet Test. 12(12):135-138, 2008
Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion., Am J Med Genet A. 146A(146A):1335-1340, 2008
Madrigal I, Rodríguez-Revenga L, Badenas C, Sanchez A, Milà M. Deletion of the OPHN1 gene detected by aCGH., J Intellect Disabil Res. 52(52):190-4, 2008
Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodríguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada MI, Pérez-Jurado LA, Estivill X, Milà M. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation., BMC Genomics. 8(8):443, 2007
Madrigal I, Rodríguez-Revenga L, Badenas C, Sánchez A, Martínez F, Fernández I, Fernández-Buriel M, Milà M. MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation., Genet Med. 9(9):117-122, 2007
Rodríguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy., Am J Med Genet A. 143(143):916-920, 2007
Arranz JA, Madrigal I, Riudor E, Armengol L, Milá M. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome., J Inherit Metab Dis. 30(30):813, 2007
Morales C, Soler A, Bruguera J, Madrigal I, Alsius M, Obon M, Margarit E, Sánchez A. Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion., Cytogenet Genome Res. 116(116):319-323, 2007
Morales C, Madrigal I, Esque T, De la Fuente JE, Rodríguez JM, Margarit E, Soler A, Sánchez A. Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region., Am J Med Genet A. 143(143):179-183, 2007
To-Figueras J, Badenas C, Mascaró JM, Madrigal I, Merino A, Bastida P, Lecha M, Herrero C. Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria., Blood Cells Mol Dis. 2007 May-Jun;38(3): 38(38):242-246, 2007
Pujana MA, Ruiz A, Badenas C, Puig-Butille JA, Nadal M, Stark M, Gómez L, Valls J, Sole X, Hernández P, Cerrato C, Madrigal I y col. Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor., Genes Chromosomes Cancer. 46(46):155-162, 2007
Madrigal I, Carrió A, Gómez C, Rozman M, Esteve J, Nomdedeu B, Campo E, Costa D. Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements., Cancer Genet Cytogenet. 170(170):115-120, 2006
Costa D, Carrió A, Madrigal I, Arias A, Valera A, Colomer D, Aguilar JL, Teixido M, Camos M, Cervantes F, Campo E. Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia., Cancer Genet Cytogenet. 166(166):89-93, 2006
Rodríguez-Revenga Bodi L, Madrigal-Bajo I, Milà-Racasens M. Genetic mental retardation., Rev Neurol. 43(43):181-186, 2006
Milá-Racasens M, Rodríguez-Revenga Bodi L, Madrigal-Bajo I. Diagnosis of genetic mental retardation. Protocol of study., Rev Neurol. 42(42):103-107, 2006
Sánchez-Díaz A, Morales-Peydro C, Madrigal-Bajo I. Autosomal dominant mental retardation., Rev Neurol. 42(42):33-37, 2006
Santos C, Rodríguez-Revenga L, Madrigal I, Badenas C, Pineda M, Milà M. A novel mutation in JARID1C gene associated with mental retardation., Eur J Hum Genet. 14(14):583-6, 2006
Irene Madrigal Bajo
Dirección profesional:
Villarroel 170 - 08036, Barcelona, España
