Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alejandra Del Pilar Reyes-de la Rosa"'
Autor:
Alejandra del Pilar Reyes-de la Rosa, Gustavo Varela-Fascinetto, Constanza García-Delgado, Edgar Ricardo Vázquez-Martínez, Pedro Valencia-Mayoral, Marco Cerbón, Verónica Fabiola Morán-Barroso
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases
Externí odkaz:
https://doaj.org/article/5bf0d92095aa4c68aec77ae380922796
Autor:
Ana Carolina Tamayo Palacio, Alejandra del Pilar Reyes de la Rosa, Perla Rocio Robledo Ramirez, Nidia Anaid Huerta Bolfeta, Linda Beatriz Muñoz Martinez, Ariadna Berenice Morales Jimenez, Rodrigo Moreno Salgado
Publikováno v:
Journal of the National Comprehensive Cancer Network. 20:CLO22-075
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::821df5d17e5b90abda36b4566f025567
https://doi.org/10.6004/jnccn.2021.7308
https://doi.org/10.6004/jnccn.2021.7308
Autor:
Ana Carolina Tamayo Palacio, Alejandra del Pilar Reyes de la Rosa, Romina Viveros Rodriguez, Rodrigo Moreno Salgado
Publikováno v:
Journal of the National Comprehensive Cancer Network. 21:BPI23-015
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dea38797b6167191d8a41e0f1cbfc733
https://doi.org/10.6004/jnccn.2022.7245
https://doi.org/10.6004/jnccn.2022.7245
Autor:
Laura Gómez-Laguna, Alejandra Del Pilar Reyes-de la Rosa, Judith Villa-Morales, Verónica Fabiola Morán-Barroso, Alicia Cervantes, Ariadna Berenice Morales-Jiménez, Constanza García-Delgado, Alejandro Martínez-Herrera, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Susana Kofman, Karem Nieto-Martínez
Publikováno v:
Ophthalmic Genetics. 39:56-62
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females genera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::022148e4b3527b5f97cecacd3dc419cb
https://doi.org/10.1080/13816810.2017.1363245
https://doi.org/10.1080/13816810.2017.1363245
Autor:
Verónica Fabiola Morán-Barroso, Gustavo Varela-Fascinetto, Constanza García-Delgado, Alejandra Del Pilar Reyes-de la Rosa, Pedro Valencia-Mayoral, Marco Cerbón, Edgar Ricardo Vázquez-Martínez
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Case Reports in Genetics
Case Reports in Genetics
Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fec829c6718b8d1fcaf944cc48751f77
https://doi.org/10.1155/2018/1369413
https://doi.org/10.1155/2018/1369413
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease
Autor:
Claudia Gutiérrez-Camacho, Norma Balderrabano-Saucedo, Paulina María Núñez-Martínez, Jesús Del Bosque-Garza, Dino Pietropaolo-Cienfuegos, Nayely Garibay-Nieto, Verónica Fabiola Morán-Barroso, Arturo Flores-Cuevas, Alejandra Del Pilar Reyes-de la Rosa, Francisco Flores-Ramírez, Constanza García-Delgado, Diana Ibarra-Grajeda, Leticia García-Morales, Patricia G. Medina-Bravo, Luz del Carmen Márquez-Quiróz, Candy Sue Márquez-Ávila, Rocío Sánchez-Urbina, Paola Mendelsberg-Fishbein, Alfredo Vizcaíno-Alarcón, Ariadna Berenice Morales-Jiménez, Salvador Esteva-Solsona
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 79:1886-1891
Introduction Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormaliti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d6f00deaf258b1367b8f131fd69672
https://doi.org/10.1016/j.ijporl.2015.08.038
https://doi.org/10.1016/j.ijporl.2015.08.038