Search Results - "Alcántara‐Ortigoza, M.A."

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome by Alcántara-Ortigoza, M.A., García-de Teresa, B., González-del Angel, A., Berumen, J., Guardado-Estrada, M., Fernández-Hernández, L., Navarrete-Martínez, J.I., Maza-Morales, M., Rius-Domínguez, R.

“…Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational…”
Get full text

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect by Vela-Amieva, M., Abreu-González, M., González-del Angel, A., Ibarra-González, I., Fernández-Lainez, C., Barrientos-Ríos, R., Monroy-Santoyo, S., Guillén-López, S., Alcántara-Ortigoza, M.A.

“…The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
Get full text

Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient by Morán‐Villaseñor, E., Saez‐de‐Ocariz, M., Torrelo, A., Arostegui, J.I., Yamazaki‐Nakashimada, M.A., Alcántara‐Ortigoza, M.A., González‐del‐Angel, A., Velázquez‐Aragón, J.A., López‐Herrera, G., Berrón‐Ruiz, L., García‐Romero, M.T.

“…Background Autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation (APLAID) is an exceedingly rare monogenic…”
Get full text

Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2 by Yamazaki‐Nakashimada, M.A., Roldán‐Marín, R., Toussaint‐Caire, S., Olaya‐Vargas, A., Ramírez‐Uribe, N., Rivas‐Larrauri, F., Durán‐McKinster, C., Alcántara‐Ortigoza, M.A., González‐del Angel, A., Orozco‐Covarrubias, L., Scheffler‐Mendoza, S., Saez‐de‐Ocariz, M.

Get full text

Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans by Velázquez-Aragón, J.A., Alcántara-Ortigoza, M.A., Estandia-Ortega, B., Reyna-Fabián, M.E., Méndez-Adame, C.D., González-del Angel, A.

“…Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth defect that has a complex etiology. Genome-wide association studies…”
Get full text

Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH 4 responsiveness and evidence of a founder effect by Vela‐Amieva, M., Abreu‐González, M., González‐del Angel, A., Ibarra‐González, I., Fernández‐Lainez, C., Barrientos‐Ríos, R., Monroy‐Santoyo, S., Guillén‐López, S., Alcántara‐Ortigoza, M.A.

“…The mutational spectrum of the phenylalanine hydroxylase gene ( PAH ) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
Get full text