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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. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 Free PMC article.
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Fernández-Hernández L, Reyna-Fabián ME, Alcántara-Ortigoza MA, Aláez-Verson C, Flores-Lagunes LL, Carrillo-Sánchez K, González-Del Angel A. Fernández-Hernández L, et al. Diagnostics (Basel). 2022 May 19;12(5):1268. doi: 10.3390/diagnostics12051268. Diagnostics (Basel). 2022. PMID: 35626423 Free PMC article.
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. 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
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. 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.
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. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 Free PMC article.
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. Gene. 2019 Jul 20;706:62-68. doi: 10.1016/j.gene.2019.04.073. Epub 2019 Apr 29. Gene. 2019. PMID: 31048069
28 results