Showing 1 - 10 results of 10 for search 'Ariadna González‐Del Angel', query time: 0.05s Refine Results
  1. 1
    Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

    Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani, Isabel Ibarra-González

    Published 2021-02-01
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  2. 2
    Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis

    Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis by Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Carolina Algara-Ramírez, Marco Antonio Hernández-Hernández, Lorenza Saenger-Rivas

    Published 2023-09-01
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  3. 3
    The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes

    The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes by Bernardette Estandia-Ortega, Miriam Erandi Reyna-Fabián, José Antonio Velázquez-Aragón, Ariadna González-del Angel, Liliana Fernández-Hernández, Miguel Angel Alcántara-Ortigoza

    Published 2022-10-01
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  4. 4
    TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant

    TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant by Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel

    Published 2020-01-01
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  5. 5
    Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

    Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome by Liliana Fernández-Hernández, Miriam Erandi Reyna-Fabián, Miguel Angel Alcántara-Ortigoza, Carmen Aláez-Verson, Luis L. Flores-Lagunes, Karol Carrillo-Sánchez, Ariadna González-del Angel

    Published 2022-05-01
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  6. 6
    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 <i>FOXE1</i>, <i>NKX2-5</i> and <i>TSHR</i>

    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 i... by Miguel Angel Alcántara-Ortigoza, Iraís Sánchez-Verdiguel, Liliana Fernández-Hernández, Sergio Enríquez-Flores, Aidy González-Núñez, Nancy Leticia Hernández-Martínez, Carmen Sánchez, Ariadna González-del Angel

    Published 2021-05-01
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  7. 7
    In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening

    In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Scr... by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez

    Published 2023-11-01
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  8. 8
    Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with <i>TSC2</i>-Related Tuberous Sclerosis Complex

    Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with <i>TSC2</i>-Related Tuberous Sclerosis Complex by Ariadna González-del Angel, Adriana Ruiz-Herrera, Nancy Leticia Hernández-Martínez, Carlos G. Todd-Quiñones, Carola Durán-McKinster, Patricia Herrera-Mora, Miguel Angel Alcántara-Ortigoza

    Published 2023-09-01
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  9. 9
    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant by Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva

    Published 2019-12-01
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  10. 10
    An Updated <i>PAH</i> Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

    An Updated <i>PAH</i> Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations by Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez

    Published 2021-10-01
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