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28 results

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Page 1
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Alcántara-Ortigoza MA, García-de Teresa B, González-Del Angel A, Berumen J, Guardado-Estrada M, Fernández-Hernández L, Navarrete-Martínez JI, Maza-Morales M, Rius-Domínguez R. Alcántara-Ortigoza MA, et al. Among authors: fernandez hernandez l. Clin Genet. 2016 May;89(5):574-83. doi: 10.1111/cge.12738. Epub 2016 Feb 9. Clin Genet. 2016. PMID: 26762690
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M. Fernández-Lainez C, et al. Among authors: fernandez hernandez l. Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21. Brain Dev. 2018. PMID: 29685341
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
Chacón-Camacho OF, Salgado-Medina A, Alcaraz-Lares N, López-Moreno D, Barragán-Arévalo T, Nava-Castañeda A, Rodríguez-Uribe G, Lieberman E, Rodríguez-Cabrera L, González-Del Angel A, Borbolla AM, Fernández-Hernández L, Graue-Hernández EO, Zenteno JC. Chacón-Camacho OF, et al. Among authors: fernandez hernandez l. Gene. 2019 Jul 20;706:62-68. doi: 10.1016/j.gene.2019.04.073. Epub 2019 Apr 29. Gene. 2019. PMID: 31048069
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.
González-Del Angel A, Fernández-Hernández L, Sánchez-Verdiguel I, González-Núñez A, Martínez-Cruz V, Sánchez C, Moreno-Rojas R, Alcántara-Ortigoza MA. González-Del Angel A, et al. Among authors: fernandez hernandez l. J Pediatr Genet. 2019 Jun;8(2):41-46. doi: 10.1055/s-0038-1676644. Epub 2019 Jan 2. J Pediatr Genet. 2019. PMID: 31061744 Free PMC article.
Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria.
Martínez Anaya D, Fernández Hernández L, González Del Angel A, Alcántara Ortigoza MA, Ulloa Avilés V, Pérez Vera P. Martínez Anaya D, et al. Among authors: fernandez hernandez l. Cytogenet Genome Res. 2020;160(4):177-184. doi: 10.1159/000507561. Epub 2020 May 6. Cytogenet Genome Res. 2020. PMID: 32369810
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Alcántara-Ortigoza MA, Sánchez-Verdiguel I, Fernández-Hernández L, Enríquez-Flores S, González-Núñez A, Hernández-Martínez NL, Sánchez C, González-Del Angel A. Alcántara-Ortigoza MA, et al. Among authors: hernandez martinez nl, fernandez hernandez l. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 Free PMC article.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Vela-Amieva M, Alcántara-Ortigoza MA, Ibarra-González I, González-Del Angel A, Fernández-Hernández L, Guillén-López S, López-Mejía L, Carrillo-Nieto RI, Belmont-Martínez L, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: fernandez lainez c, fernandez hernandez l. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 Free PMC article.
28 results