Maria del Valle Torrado
- Change in prevalence of congenital defects in children with Prader-Willi syndromeM Torrado
Combate de los Pozos 1881 CP 1245, Buenos Aires, Argentina
Pediatrics 131:e544-9. 2013..In addition, these findings were correlated with the different etiologic subtypes...
- Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary studyMaria Torrado
Hospital de Pediatría Prof Dr Juan P Garrahan Genética, Buenos Aires, Argentina
Am J Med Genet A 143:460-8. 2007..020). In summary, the phenotype was significantly different between both groups in certain parameters related to the CNS. These results might be related to the differences in brain gene expression of the genetic subtypes...
- [Etiologic evaluation of genetically-caused mental retardation. Diagnostic algorithm and new molecular techniques]Maria del Valle Torrado
Servicio de Genetica, Hospital Nacional de Pediatria Prof Dr Juan P Garrahan
Arch Argent Pediatr 107:246-55. 2009..A well-defined etiology will lead to the proper management of children with mental retardation, and suitable family counseling...
- Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromesDaniel Borelina
Genetica y Biologia Molecular, Facultad de Farmacia y Bioquimica, UBA, Buenos Aires, Argentina
J Biochem Mol Biol 37:522-6. 2004..This study highlights the importance of using a combination of cytogenetic and molecular tests for a reliable diagnosis of PWS or AS, and for the identification of genetic alterations...