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

por Neumann, Adina, Alcántara-Ortigoza, Miguel Ángel, González-del Ángel, Ariadna, Camargo-Diaz, Felipe, López-Bayghen, Esther
Publicado 2019

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

por González-del Angel, Ariadna, Alcántara-Ortigoza, Miguel Angel, Ramos, Sandra, Algara-Ramírez, Carolina, Hernández-Hernández, Marco Antonio, Saenger-Rivas, Lorenza
Publicado 2023

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

por Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Belmont-Martínez, Leticia, López-Candiani, Carlos, Ibarra-González, Isabel
Publicado 2021

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

por Villarroel, Camilo E., Villanueva-Mendoza, Cristina, Orozco, Lorena, Alcántara-Ortigoza, Miguel Angel, Jiménez, Diana F., Ordaz, Juan C., González-del Angel, Ariadna
Publicado 2008

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes

por Estandia-Ortega, Bernardette, Reyna-Fabián, Miriam Erandi, Velázquez-Aragón, José Antonio, González-del Angel, Ariadna, Fernández-Hernández, Liliana, Alcántara-Ortigoza, Miguel Angel
Publicado 2022

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

por Neumann, Adina, Alcantara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Zarate Díaz, Nestor Alejandro, Santana, Javier Sam, Porchia, Leonardo M, López-Bayghen, Esther
Publicado 2021

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

por 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
Publicado 2016

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...

por 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
Publicado 2019

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

por 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
Publicado 2022

Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex

por González-del Angel, Ariadna, Ruiz-Herrera, Adriana, Hernández-Martínez, Nancy Leticia, Todd-Quiñones, Carlos G., Durán-McKinster, Carola, Herrera-Mora, Patricia, Alcántara-Ortigoza, Miguel Angel
Publicado 2023

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...

por 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
Publicado 2021

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

por 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
Publicado 2019

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

por 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
Publicado 2019

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

por 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
Publicado 2021

Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial

por López-Velázquez, Gabriel, Parra-Ortiz, Minerva, De la Mora-De la Mora, Ignacio, García-Torres, Itzhel, Enríquez-Flores, Sergio, Alcántara-Ortigoza, Miguel Angel, González-del Angel, Ariadna, Velázquez-Aragón, José, Ortiz-Hernández, Rosario, Cruz-Rubio, José Manuel, Villa-Barragán, Pablo, Jiménez-Gutiérrez, Carlos, Gutiérrez-Castrellón, Pedro
Publicado 2015