Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations
Gkourogianni, Alexandra, Andrew, Melissa, Tyzinski, Leah, Crocker, Melissa, Douglas, Jessica, Dunbar, Nancy, Fairchild, Jan, Funari, Mariana F. A, Heath, Karen E, Jorge, Alexander A.L, Kurtzman, Tracey, LaFranchi, Stephen, Lalani, Seema, Lebl, Jan, Lin, Yuezhen, Los, Evan, Newbern, Dorothee, Nowak, Catherine, Olson, Micah, Popovic, Jadranka, Průhová, Štěpánka, Elblova, Lenka, Quintos, Jose Bernardo, Segerlund, Emma, Sentchordi, Lucia, Shinawi, Marwan, Stattin, Eva-Lena, Swartz, Jonathan, Ariadna, González-del Angel, Sinhué, Díaz-Cuéllar, Hosono, Hidekazu, Sanchez-Lara, Pedro A, Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
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Journal Article
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate
Velázquez-Aragón, José A, González-Del Angel, Ariadna, Alcántara-Ortigoza, Miguel A, Reyna-Fabián, Miriam E, Estandia-Ortega, Bernardette
Published in The Cleft palate-craniofacial journal (01.09.2021)
Published in The Cleft palate-craniofacial journal (01.09.2021)
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Journal Article
Proposed clinical approach and imaging studies in families with oculo‐auriculo‐vertebral spectrum to assess variable expressivity
Estandia‐Ortega, Bernardette, Fernández‐Hernández, Liliana, Alcántara‐Ortigoza, Miguel Angel, González‐del Angel, Ariadna
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Journal Article
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
Apam‐Garduño, David, Cazarín‐Barrientos, Jorge, Hernández‐Martínez, Nancy Leticia, Reyna‐Fabián, Miriam Erandi, Magaña, Mario, Alcántara‐Ortigoza, Miguel Angel, González‐del Angel, Ariadna, Rivera‐Vega, María Refugio
Published in Journal of cutaneous pathology (01.06.2023)
Published in Journal of cutaneous pathology (01.06.2023)
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Journal Article
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene
Caro‐Contreras, Alan, Alcántara‐Ortigoza, Miguel A., Ahumada‐Pérez, Juan F., González‐del Angel, Ariadna
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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Journal Article
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations
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
Published in Genes (23.10.2021)
Published in Genes (23.10.2021)
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Journal Article
Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial
López-Velázquez, Gabriel, Parra-Ortiz, Minerva, Mora, Ignacio De la Mora-De la, García-Torres, Itzhel, Enríquez-Flores, Sergio, Alcántara-Ortigoza, Miguel Angel, Angel, Ariadna González-Del, Velázquez-Aragón, José, Ortiz-Hernández, Rosario, Cruz-Rubio, José Manuel, Villa-Barragán, Pablo, Jiménez-Gutiérrez, Carlos, Gutiérrez-Castrellón, Pedro
Published in Nutrients (29.10.2015)
Published in Nutrients (29.10.2015)
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Journal Article
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival
González‐del Angel, Ariadna, Rius, Rocío, Alcántara‐Ortigoza, Miguel A., Spector, Elaine, del Castillo, Victoria, Mata‐García, Luis Enrique
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal 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, Miguel Angel, Sánchez-Verdiguel, Iraís, Fernández-Hernández, Liliana, Enríquez-Flores, Sergio, González-Núñez, Aidy, Hernández-Martínez, Nancy Leticia, Sánchez, Carmen, González-del Angel, Ariadna
Published in Children (Basel) (30.05.2021)
Published in Children (Basel) (30.05.2021)
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Journal Article
Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene
Bermúdez-López, Cesárea, García-de Teresa, Benilde, González-del Angel, Ariadna, Alcántara-Ortigoza, Miguel Angel
Published in Genetic testing and molecular biomarkers (01.02.2014)
Published in Genetic testing and molecular biomarkers (01.02.2014)
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Journal Article
Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis
González-del Angel, Ariadna, Alcántara-Ortigoza, Miguel Angel, Ramos, Sandra, Algara-Ramírez, Carolina, Hernández-Hernández, Marco Antonio, Saenger-Rivas, Lorenza
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Journal Article
Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos
Velazquez-Aragon, José A, Alcantara-Ortigoza, Miguel A, Estandia-Ortega, Bernardette, Reyna-Fabian, Miriam E, Cruz-Fuentes, Carlos, Villagomez, Sandra, Gonzalez-del Angel, Ariadna
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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Journal Article
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
Reyna-Fabián, Miriam E, Hernández-Martínez, Nancy L, Alcántara-Ortigoza, Miguel A, Ayala-Sumuano, Jorge T, Enríquez-Flores, Sergio, Velázquez-Aragón, José A, Varela-Echavarría, Alfredo, Todd-Quiñones, Carlos G, González-Del Angel, Ariadna
Published in Scientific reports (20.04.2020)
Published in Scientific reports (20.04.2020)
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Journal Article
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
Vela-Amieva, Marcela, Alcántara-Ortigoza, Miguel Angel, González-Del Angel, Ariadna, Belmont-Martínez, Leticia, López-Candiani, Carlos, Ibarra-González, Isabel
Published in Orphanet journal of rare diseases (26.02.2021)
Published in Orphanet journal of rare diseases (26.02.2021)
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Journal Article
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes
Estandia-Ortega, Bernardette, Reyna-Fabián, Miriam Erandi, Velázquez-Aragón, José Antonio, González-Del Angel, Ariadna, Fernández-Hernández, Liliana, Alcántara-Ortigoza, Miguel Angel
Published in Life (Basel, Switzerland) (28.10.2022)
Published in Life (Basel, Switzerland) (28.10.2022)
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Journal 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, Marcela, Alcántara-Ortigoza, Miguel Angel, González-Del Angel, Ariadna, Ibarra-González, Isabel, Fernández-Hernández, Liliana, Guillén-López, Sara, López-Mejía, Lizbeth, Fernández-Lainez, Cynthia
Published in Children (Basel) (28.11.2023)
Published in Children (Basel) (28.11.2023)
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Journal Article
Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?
Alcántara-Ortigoza, Miguel, Rodríguez-Lozano, Ana, Estandía-Ortega, Bernardette, González-del Angel, Ariadna, Díaz-García, Luisa, Rivas-Larrauri, Francisco, Nájera-Velázquez, Ruth
Published in Children (Basel) (01.06.2024)
Published in Children (Basel) (01.06.2024)
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Journal Article
Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex
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
Published in Children (Basel) (01.10.2023)
Published in Children (Basel) (01.10.2023)
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Journal Article
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo
Published in Frontiers in neurology (04.10.2019)
Published in Frontiers in neurology (04.10.2019)
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Journal Article
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome
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
Published in Diagnostics (Basel) (19.05.2022)
Published in Diagnostics (Basel) (19.05.2022)
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Journal Article