Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Melania Abreu"'
Autor:
Monica Rodriguez‐Valero, Adrian Pastolero, Shelby Redfield, Alma Medrano, Melania Abreu‐Gonzalez, Jose Francisco Gallardo‐Ollervides, Juan Carlos Cisneros Lesser, Maria Fernanda Hinojosa Valencia, Dennis Poe, Eliot Shearer
Publikováno v:
Laryngoscope Investigative Otolaryngology, Vol 9, Iss 3, Pp n/a-n/a (2024)
Abstract Objective Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates
Externí odkaz:
https://doaj.org/article/daeaeecaf78f4f82a89a757f24a8ce05
Autor:
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6fb2e451663f498097b6426ea1b01233
Autor:
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α
Externí odkaz:
https://doaj.org/article/79c48e7605864d46adf586bb565c6aa1
Autor:
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionCongenital glucose–galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and
Externí odkaz:
https://doaj.org/article/b6549e36415348fcba1bbe6971aca594
Autor:
Silvina Contreras-Capetillo, Melania Abreu, Rodrigo Rubí-Castellanos, Lizbeth González-Herrera, Jorge Rangel-Méndez, Doris Pinto-Escalante, Julia Ribbón-Conde, Jary Couoh-Castañeda
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101355- (2024)
Externí odkaz:
https://doaj.org/article/3c633269d06540b0b7085168705e9693
Autor:
Melania Abreu, Luis Villela Martínez, Adrián Alejandro Ceballos López, Alberto Villalobos Prieto, Álvaro Cabrera García, Marcela Deffis Court, René Porfirio Amatón Tabares, Siria María Carvajal Lohr, Cesar Humberto Galindo Ruvalcaba, Federico Godínez Hernández, Yolanda Fabiola Rodríguez Muñoz, Lizbeth Hernández Ancheyta, Coztli Ocelotl Azotla Vilchis
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100061- (2023)
Externí odkaz:
https://doaj.org/article/5cd39936aabe4cf5b881e756a5a99e2b
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/16f9a7c36b8c4e668090bb6fa6040a84
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosy
Externí odkaz:
https://doaj.org/article/31a570422e514fc1967b53252d47ed25
Publikováno v:
Journal of Rare Diseases Research & Treatment. 4:61-65
Autor:
Griselda, Fuentes-Fuentes, Melania, Abreu-González, José Domingo, Gamboa-Marrufo, Constanza, García-Delgado, Alejandra, Consuelo-Sánchez, Verónica Fabiola, Morán-Barroso
Publikováno v:
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. 64(5)