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Year Number of Results
2013 1
2018 1
2019 3
2020 1
2021 3
2022 3
2023 3
2024 1

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15 results

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Page 1
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Leal-Anaya P, Kimball TN, Yanez-Felix AL, Fiesco-Roa MÓ, García-de Teresa B, Monsiváis A, Juárez-Velázquez R, Lieberman E, Villarroel C, Yokoyama E, Fernández-Hernández L, Rivera-Osorio A, Sosa D, Ortiz Sandoval MM, López-Santiago N, Frías S, Del Castillo V, Rodríguez A. Leal-Anaya P, et al. Among authors: fernandez hernandez l. Front Genet. 2024 Jan 24;14:1293929. doi: 10.3389/fgene.2023.1293929. eCollection 2023. Front Genet. 2024. PMID: 38327701 Free PMC article.
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C. Vela-Amieva M, et al. Among authors: fernandez hernandez l. Children (Basel). 2023 Nov 28;10(12):1865. doi: 10.3390/children10121865. Children (Basel). 2023. PMID: 38136067 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.
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 hernandez l. Genes (Basel). 2021 Oct 23;12(11):1676. doi: 10.3390/genes12111676. Genes (Basel). 2021. PMID: 34828281 Free PMC article.
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: fernandez hernandez l. Children (Basel). 2021 May 30;8(6):457. doi: 10.3390/children8060457. Children (Basel). 2021. PMID: 34070861 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
15 results