Zobrazeno 1 - 10
of 428
pro vyhledávání: '"Borrego Salud"'
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
Fernández Raquel Ma, Bleda Marta, Núñez-Torres Rocío, Medina Ignacio, Luzón-Toro Berta, García-Alonso Luz, Torroglosa Ana, Marbà Martina, Enguix-Riego Ma Valle, Montaner David, Antiñolo Guillermo, Dopazo Joaquín, Borrego Salud
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 103 (2012)
Abstract Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for
Externí odkaz:
https://doaj.org/article/d840fcdeae1f4bfab9b968bd22187a6c
Autor:
Castaño Luis, Carlos de Agustín Juan, Marbá Martina, Enguix-Riego Maria del Valle, Acosta Manuel, Fernández Raquel M, Núñez-Torres Rocio, Antiñolo Guillermo, Borrego Salud
Publikováno v:
BMC Medical Genetics, Vol 12, Iss 1, p 138 (2011)
Abstract Background RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have p
Externí odkaz:
https://doaj.org/article/455ff56db5a0428aad8794bb27be7346
Autor:
Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud
Publikováno v:
BMC Medical Genetics, Vol 11, Iss 1, p 137 (2010)
Abstract Background Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately
Externí odkaz:
https://doaj.org/article/b51817bd2cf947798869227b919d174b
Autor:
Antiñolo Guillermo, Fernández Raquel M, Núñez-Torres Rocio, Sánchez-Mejías Avencia, Borrego Salud
Publikováno v:
BMC Medical Genetics, Vol 11, Iss 1, p 71 (2010)
Abstract Background Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations in severa
Externí odkaz:
https://doaj.org/article/7e33c795aeed455abe95c81b071aab94
Autor:
Antiñolo Guillermo, López-Alonso Manuel, Fernández Raquel M, Núñez-Torres Rocío, Borrego Salud
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 119 (2009)
Abstract Background Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, main
Externí odkaz:
https://doaj.org/article/7921c856aac249219f86e26c213c7389
Autor:
Puppo Moreno, Antonio M., Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Adsuar Gómez, Alejandro, Gómez Ruiz, F. Tadeo, Jiménez De Juan, Carlos, Fernández García, Raquel M., Martín Bermúdez, Rafael, López Sánchez, José María, Martín Sastre, Sara, Fernández Caro, Manuel, Gallego, Pastora, Borrego, Salud
Publikováno v:
In Revista Española de Cardiología (English Edition) June 2023 76(6):434-443
Autor:
Puppo Moreno, Antonio M., Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Adsuar Gómez, Alejandro, Gómez Ruiz, F. Tadeo, Jiménez De Juan, Carlos, Fernández García, Raquel M., Martín Bermúdez, Rafael, López Sánchez, José María, Martín Sastre, Sara, Fernández Caro, Manuel, Gallego, Pastora, Borrego, Salud
Publikováno v:
In Revista Española de Cardiología June 2023 76(6):434-443
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.