Buscar por Materia Mutación
Mostrando resultados 1 a 23 de 23
| Fecha de publicación | Título | Autor(es) |
| 2016 | An uncommon inheritance pattern in Niemann-Pick disease type C: Identification of probable paternal germline mosaicism in a Mexican family | Cervera Gaviria M., |
| 2008 | Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: Report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay | Alcántara Ortigoza, Miguel Ángel |
| 2008 | El análisis del gen CTNS en pacientes con cistinosis nefropática en México: informe de cuatro nuevas mutaciones y la identificación de un falso positivo de 57 kb de deleción genotipo LDM-2 / exón 4 multiplex PCR ensayo. | MIGUEL ANGEL ALCANTARA ORTIGOZA; LETICIA BELMONT MARTINEZ; MARCELA BEATRIZ VELA AMIEVA; ARIADNA ESTELA GONZALEZ DEL ANGEL |
| 2008 | Análisis molecular del gen PAX6 en pacientes mexicanos con aniridia congénita: informe de cuatro nuevas mutaciones. | Villarroel CE |
| 2012 | Análisis molecular del gen PAX8 en una muestra de pacientes mexicanos con hipotiroidismo congénito primario: identificación de la mutación p.Arg31His recurrente | Alcántara Ortigoza, Miguel Ángel |
| 2008 | Baja heterogeneidad alélica en una muestra de pacientes mexicanos con galactosemia clásica. | Velázquez Aragón, J.A. |
| 2013 | Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome | Vargas Hernadez A |
| 2015 | Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry | Borges de Oliveira-Junior, Edgar |
| 2013 | Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome | Nakamura K |
| 2012 | Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity | Lopez Herrera, Gabriela |
| 2008 | El análisis del gen CTNS en pacientes con cistinosis nefropática en México: informe de cuatro nuevas mutaciones y la identificación de un falso positivo de 57 kb de deleción genotipo LDM-2 / exón 4 multiplex PCR ensayo. | Alcántara Ortigoza, Miguel Ángel |
| 2016 | Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan | Gómez Manzo, Saúl |
| 2013 | IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database | Van De Vosse Esther |
| 2012 | Increased pro-inflammatory cytokine production after lipopolysaccharide stimulation in patients with X-linked agammaglobulinemia | Gonzalez Serrano, Maria Edith |
| 2013 | Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation | Piña Aguilar, Raúl E |
| 2015 | Mutations of glucose-6-phosphate dehydrogenase durham, Santa-Maria and A+ variants are associated with loss functional and structural stability of the protein | Gómez Manzo, Saúl |
| 2014 | Neutropenia congénita grave con una nueva mutación ELANE en 2 pacientes mexicanos | Dorbeker Azcona, Raúl |
| 2002 | New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia | Machuca Tzili L |
| 2013 | Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation | Moncada Vélez Marcela |
| 2015 | Phenylalanine hydroxylase deficiency in Mexico: Genotype-phenotype correlations, BH<inf>4</inf> responsiveness and evidence of a founder effect | Vela Amieva, Marcela Beatríz |
| 2013 | Structural and functional perturbation of Giardia lamblia triosephosphate isomerase by modification of a non-catalytic, non-conserved region. | Hernández Alcántara, Gloria |
| 2014 | The stability of G6PD is affected by mutations with different clinical phenotypes | Gómez Manzo, Saúl |
| 2001 | XV-2c/km-19 Haplotype analysis of cystic fibrosis mutations in mexican patients | Orozco, Lorena |
