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pro vyhledávání: '"Clavijo Hurtado, Sergio"'
Autor:
Clavijo Hurtado, Sergio
Publikováno v:
Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010; 115 (22): 4331-6.
Benaiges RG. La citogenética en la valoración dismórfica. BSCP Can Ped 2004; 28: 195-199.
Hochstenbach R, et al. Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. European Journal of Medical Genetics 52 (2009) 161–169
Miller DT, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics 86, 749–764, May 14, 2010.
Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica 2010; 30:65-71
Zarante I, López MA, Caro A, García JC, Ospina JC. Impact and risk factors of craniofacial malformations in a Colombian population. International Journal of Pediatric Otorhinolaryngology 73 (2009) 1434–1437
Parra M, Schepeler M, Quiroz L. Cromosomopatías. Unidad Medicina Fetal, Hospital Universitario de Chile, 2000
Aviña JA, Wilson BT. Dysmorphic syndrome of multiple congenital abnormalities: Current classification updated. Revista Mexicana de Pediatría. Vol. 76, Núm 3. Mayo/Junio 2009. 132-135
Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117 (6).
Casanelles MdC, García F, Reyes D, García A. Enfoque diagnóstico del niño dismórfico. Protocolos diagnósticos y terapéuticos en Pediatría. Neonatología. España, 2008
Poot M, Hochstenbach R. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genetics IN Medicine, Volume 12, Number 8, August 2010
Friedman JM, et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009, 10:526
Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet 2008; 147B (7): 1101-8.
Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, et al. Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis. Clin Genet 2007; 71 (3): 254-9.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006; 38 (9): 1032-7.
Ness GO, Lybaek H, Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 2002; 113 (2): 125-36.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Benaiges RG. La citogenética en la valoración dismórfica. BSCP Can Ped 2004; 28: 195-199.
Hochstenbach R, et al. Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. European Journal of Medical Genetics 52 (2009) 161–169
Miller DT, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics 86, 749–764, May 14, 2010.
Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica 2010; 30:65-71
Zarante I, López MA, Caro A, García JC, Ospina JC. Impact and risk factors of craniofacial malformations in a Colombian population. International Journal of Pediatric Otorhinolaryngology 73 (2009) 1434–1437
Parra M, Schepeler M, Quiroz L. Cromosomopatías. Unidad Medicina Fetal, Hospital Universitario de Chile, 2000
Aviña JA, Wilson BT. Dysmorphic syndrome of multiple congenital abnormalities: Current classification updated. Revista Mexicana de Pediatría. Vol. 76, Núm 3. Mayo/Junio 2009. 132-135
Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117 (6).
Casanelles MdC, García F, Reyes D, García A. Enfoque diagnóstico del niño dismórfico. Protocolos diagnósticos y terapéuticos en Pediatría. Neonatología. España, 2008
Poot M, Hochstenbach R. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genetics IN Medicine, Volume 12, Number 8, August 2010
Friedman JM, et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009, 10:526
Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet 2008; 147B (7): 1101-8.
Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, et al. Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis. Clin Genet 2007; 71 (3): 254-9.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006; 38 (9): 1032-7.
Ness GO, Lybaek H, Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 2002; 113 (2): 125-36.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Introducción: la hibridación genómica comparativa en una técnica que permite la exploración de las anormalidades cromosómicas. Su utilidad en la aproximación de los pacientes con retraso global del desarrollo o fenotipo dismórfico, sin embarg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0d75e4ff29fec617c1f888896c40c6
http://repository.urosario.edu.co/handle/10336/4219
http://repository.urosario.edu.co/handle/10336/4219
