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Citas
Santillán-Hernández Y, Almanza-Miranda E, Xin WW, Goss K, Vera-Loaiza A, Gorráez-de la Mora MT, Piña-Aguilar RE. Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. World J Gastroenterol. 2015;21(3):1001-8.
Piña-Aguilar RE, Zaragoza-Arévalo GR, Rau I, Gal A, Alcántara-Ortigoza MA, López-MartÃnez MS, Santillán-Hernández Y. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene showing a skewed X chromosome inactivation. Eur J Med Genet. 2013;56(3):159-62.
Chacon-Camacho OF, Villegas-Ruiz V, Buentello-Volante B, Piña-Aguilar RE, Peláez-González H, RamÃrez M, González-RodrÃguez J, Zenteno JC. Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. Am J Med Genet A. 2015;167A(2):282-6.
Chacón-Camacho OF, Sobreira N, You J, Piña-Aguilar RE, Villegas-Ruiz V, Zenteno JC. Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. Am J Med Genet A. 2016;170(7):1934-7.
Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015;373(11):1010-20.
Piña-Aguilar RE, Vera-Loaiza A, Chacón-Camacho OF, Zenteno JC, Nuñez-Orozco L, Santillán-Hernández Y. Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. Case Rep Neurol Med. 2014;2014:785890.
Redin et al. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies. Accepted at Nature Genetics
EXAC Project, exac.broadinstitute.org/
https://www.whitehouse.gov/precision-medicine
Center for Mendelian Genomics, http://mendelian.org/
Undiagnosed disease program, NIH, https://www.genome.gov/27550959/undiagnosed-diseases-network-udn/
Genomics England 100,000 genomes project, http://www.genomicsengland.co.uk/
Silva-Zolezzi I, Hidalgo-Miranda A, Estrada-Gil J, Fernandez-Lopez JC, Uribe-Figueroa L, Contreras A, Balam-Ortiz E, et al. Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proc Natl Acad Sci U S A. 2009;106(21):8611-6.
Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, et al. Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits. Science. 2014;344(6189):1280-5.
SIGMA Type 2 Diabetes Consortium, Williams AL, Jacobs SB, Moreno-MacÃas H, Huerta-Chagoya A, Churchhouse C, et al. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature. 2014;506(7486):97-101.
SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014;311(22):2305-14.
González-Sobrino BZ, Pintado-Cortina AP, Sebastián-Medina L, Morales-Mandujano F, Contreras AV, Aguilar YE, et al. Genetic Diversity and Differentiation in Urban and Indigenous Populations of Mexico: Patterns of Mitochondrial DNA and Y-Chromosome Lineages. Biodemography Soc Biol. 2016;62(1):53-72.