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Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Published in:
Clinical Genetics, 2016, v. 89, n. 5, p. 574, doi. 10.1111/cge.12738
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.
Publication type:
Article
Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.
Published in:
Clinical Genetics, 2015, v. 88, n. 1, p. 62, doi. 10.1111/cge.12444
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.
Publication type:
Article
Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2021, v. 35, n. 1, p. e53, doi. 10.1111/jdv.16795
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.
Publication type:
Article
Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2019, v. 33, n. 12, p. 2334, doi. 10.1111/jdv.15918
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.
Publication type:
Article

Found: 4

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH<sub>4</sub> responsiveness and evidence of a founder effect.

Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.

Expanding the clinical features of autoinflammation and phospholipase Cγ2‐associated antibody deficiency and immune dysregulation by description of a novel patient.