González-Del Angel A - Search Results

1

Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.

Estandia-Ortega B, Fernández-Hernández L, Alcántara-Ortigoza MA, González-Del Angel A. Estandia-Ortega B, et al. Among authors: gonzalez del angel a. Am J Med Genet A. 2022 May;188(5):1515-1525. doi: 10.1002/ajmg.a.62678. Epub 2022 Feb 4. Am J Med Genet A. 2022. PMID: 35119197

2

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

Llano-Rivas I, González-del Angel A, del Castillo V, Reyes R, Carnevale A. Llano-Rivas I, et al. Arch Med Res. 1999 Mar-Apr;30(2):120-4. doi: 10.1016/s0188-0128(98)00023-2. Arch Med Res. 1999. PMID: 10372445

3

Ataxia-pancytopenia syndrome.

González-del Angel A, Cervera M, Gómez L, Pérez-Vera P, Orozco L, Carnevale A, Del Castillo V. González-del Angel A, et al. Am J Med Genet. 2000 Jan 31;90(3):252-4. doi: 10.1002/(sici)1096-8628(20000131)90:3<252::aid-ajmg14>3.3.co;2-m. Am J Med Genet. 2000. PMID: 10678666

4

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 MA, Belmont-Martínez L, Vela-Amieva M, González-Del Angel A. Alcántara-Ortigoza MA, et al. Genet Test. 2008 Sep;12(3):409-14. doi: 10.1089/gte.2008.0014. Genet Test. 2008. PMID: 18752449

5

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A. Villarroel CE, et al. Mol Vis. 2008 Sep 8;14:1650-8. Mol Vis. 2008. PMID: 18776953 Free PMC article.

6

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Monroy S, Martínez-Cruz V, Todd-Quiñones C, González-del Angel A. Velázquez-Aragón J, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S333-7. doi: 10.1007/s10545-008-0905-y. Epub 2008 Oct 29. J Inherit Metab Dis. 2008. PMID: 18956253

7

[Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].

Alcántara Ortigoza MA, Aguinaga Ríos M, González del Angel A, Zavaleta Abreu Mde J, Acevedo Gallegos S, Mayén Molina DG, del Castillo Ruíz V. Alcántara Ortigoza MA, et al. Ginecol Obstet Mex. 2009 Feb;77(2):103-9. Ginecol Obstet Mex. 2009. PMID: 19365952 Review. Spanish.

8

Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.

González-Del Angel A, Bermúdez-López C, Alcántara-Ortigoza MA, Vela-Amieva M, Castillo-Cruz RA, Martínez V, Torres-Espíndola L. González-Del Angel A, et al. J Clin Pharm Ther. 2009 Dec;34(6):703-8. doi: 10.1111/j.1365-2710.2009.01058.x. J Clin Pharm Ther. 2009. PMID: 20175804

9

Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.

Alcántara-Ortigoza MA, González-del Angel A, Barrientos-Ríos R, Cupples C, Garrido-García LM, de León-Bojorge B, Alva-Chaire Adel C. Alcántara-Ortigoza MA, et al. J Child Neurol. 2010 Aug;25(8):1034-7. doi: 10.1177/0883073809356035. Epub 2010 Mar 29. J Child Neurol. 2010. PMID: 20350966

10

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.

Alcántara-Ortigoza MA, González-del Angel A, Martínez-Cruz V, Vela-Amieva M, Sánchez-Pérez C, Moreno-Rojas R, Estandía-Ortega B, Hernández-Martínez N. Alcántara-Ortigoza MA, et al. Clin Endocrinol (Oxf). 2012 Jan;76(1):148-50. doi: 10.1111/j.1365-2265.2011.04153.x. Clin Endocrinol (Oxf). 2012. PMID: 21689132 No abstract available.

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