Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Paola Mendelsberg-Fishbein"'
Autor:
Linda B. Muñoz-Martínez, Verónica Fabiola Morán-Barroso, Luis Enrique Martínez-Barrera, Paola Mendelsberg-Fishbein, Constanza García-Delgado, Mabel Cerrillo-Hinojosa, Leonardo J Mejía-Marín, Maura Robledo-Cayetano
Publikováno v:
Archivos Argentinos de Pediatria. 116
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::958512c8d2d31b6faf539f2224e10c06
https://doi.org/10.5546/aap.2018.e135
https://doi.org/10.5546/aap.2018.e135
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
Autor:
Paola, Mendelsberg-Fishbein, Constanza, García-Delgado, Linda B, Muñoz-Martínez, Maura, Robledo-Cayetano, Leonardo J, Mejía-Marín, Luis E, Martínez-Barrera, Mabel, Cerrillo-Hinojosa, Verónica F, Moran-Barroso
Publikováno v:
Archivos argentinos de pediatria. 116(1)
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9ae8eb9569bc9b4ec6841cdfdc5341d
https://pubmed.ncbi.nlm.nih.gov/29333839
https://pubmed.ncbi.nlm.nih.gov/29333839
Autor:
Verónica Fabiola Morán-Barroso, Rodrigo Moreno-Salgado, Constanza García-Delgado, María E. Blanco-Aguirre, Fernando González-Ledón, Paola Mendelsberg-Fishbein
Publikováno v:
Clinical dysmorphology. 24(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2df97c4de544b985677ba38407e18b30
https://pubmed.ncbi.nlm.nih.gov/25304120
https://pubmed.ncbi.nlm.nih.gov/25304120