Repositorio Dspace

Listar02.01.01. Investigación y comunicación científica por tema "Ectodermal Dysplasia/genetics"

Listar02.01.01. Investigación y comunicación científica por tema "Ectodermal Dysplasia/genetics"

Ordenar por:Orden:Resultados:

  • EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population 
    Carmen-Martínez-Romero, María; Ballesta-Martínez, María-Juliana; López-González, Vanesa; Sánchez-Soler, María-José; Serrano-Anton, Ana-Teresa; Barreda-Sánchez, María; Rodríguez-Pena, Lidya; Martínez-Menchon, María-Teresa; Frias-Iniesta, José; Sánchez-Pedreño, Paloma; Carbonell-Meseguer, Pablo; Glover-López, Guillermo; Guillén-Navarro, Encarna; Barcia-Ramírez, Ana; Cruz-Rojo, Jaime; Gener-Querol, Blanca; Hernández-Martin, Ángela; Lapunzina-Badia, Pablo; Llanos-Rivas, Isabel; Lorda-Sánchez, Isabel; Martínez-Carrascal, Antonio; Mascaro-Galy, José-Manuel; Noguera-Morel, Lucero; Rodríguez-González, María-Ángeles; Sánchez-del-Pozo, Jaime; Seidel, Veronica; Torrelo, Antonio; Trujillo-Tiebas, María-José (BMC, 2019-12-03)
    BACKGROUND: Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when ...
  • Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia 
    Schneider, Holm; Hadj-Rabia, Smail; Faschingbauer, Florian; Bodemer, Christine; Grange, Dorothy-K; Norton, Mary-E; Cavalli, Riccardo; Tadini, Gianluca; Stepan, Holger; Clarke, Angus; Guillén-Navarro, Encarna; Maier-Wohlfart, Sigrun; Bouroubi, Athmane; Porte, Florence (MDPI, 2023-01)
    X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, ...

Buscar en DSpace


Búsqueda avanzada

Listar

Mi cuenta