Hakutulokset - Alcántara-Ortigoza, Miguel Angel

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  1. 1
    Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

    Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report Tekijä Neumann, Adina, Alcántara-Ortigoza, Miguel Ángel, González-del Ángel, Ariadna, Camargo-Diaz, Felipe, López-Bayghen, Esther

    Julkaistu 2019
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  2. 2
    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 Tekijä Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Belmont-Martínez, Leticia, López-Candiani, Carlos, Ibarra-González, Isabel

    Julkaistu 2021
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  3. 3
    Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

    Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations Tekijä Villarroel, Camilo E., Villanueva-Mendoza, Cristina, Orozco, Lorena, Alcántara-Ortigoza, Miguel Angel, Jiménez, Diana F., Ordaz, Juan C., González-del Angel, Ariadna

    Julkaistu 2008
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  4. 4
    Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

    Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report Tekijä Neumann, Adina, Alcantara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Zarate Díaz, Nestor Alejandro, Santana, Javier Sam, Porchia, Leonardo M, López-Bayghen, Esther

    Julkaistu 2021
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  5. 5
    An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

    An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family Tekijä Cervera-Gaviria, Marivi, Alcántara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Moyers-Pérez, Paola, Legorreta-Ramírez, Blanca Gabriela Lizet, Barrera-Carmona, Nancy, Cervera-Gaviria, Jaime

    Julkaistu 2016
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  6. 6
    Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

    Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population Tekijä González-del Angel, Ariadna, Fernández-Hernández, Liliana, Sánchez-Verdiguel, Iraís, González-Núñez, Aidy, Martínez-Cruz, Víctor, Sánchez, Carmen, Moreno-Rojas, Rosario, Alcántara-Ortigoza, Miguel Angel

    Julkaistu 2019
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  7. 7
    Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing

    Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Incl... Tekijä Alcántara-Ortigoza, Miguel Angel, Reyna-Fabián, Miriam Erandi, González-del Angel, Ariadna, Estandia-Ortega, Bernardette, Bermúdez-López, Cesárea, Cruz-Miranda, Gabriela Marisol, Ruíz-García, Matilde

    Julkaistu 2019
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  8. 8
    Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

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

    Julkaistu 2022
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  9. 9
    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

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

    Julkaistu 2021
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  10. 10
    Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion

    Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion Tekijä Fernández-Hernández, Liliana, Navarro-Cobos, María José, Alcántara-Ortigoza, Miguel Angel, Ramos-Ángeles, Sandra Elena, Molina-Álvarez, Bertha, Díaz-Cuéllar, Sinhué, Asch-Daich, Bárbara, González-del Angel, Ariadna

    Julkaistu 2019
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  11. 11
    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 Tekijä Ibarra‐González, Isabel, Fernández‐Lainez, Cynthia, Alcántara‐Ortigoza, Miguel Angel, González‐Del Angel, Ariadna, Fernández‐Henández, Liliana, Guillén‐López, Sara, Belmont‐Martínez, Leticia, López‐Mejía, Lizbeth, Varela‐Fascinetto, Gustavo, Vela‐Amieva, Marcela

    Julkaistu 2019
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  12. 12
    An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

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

    Julkaistu 2021
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