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20 p, 1.1 MB Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype / Camats Tarruella, Núria (University Children's Hospital Bern (Suïssa)) ; Fernández-Cancio, Mónica (Vall d'Hebron Institut de Recerca) ; Audí, Laura (Vall d'Hebron Institut de Recerca) ; Mullis, Primus E. (University Children's Hospital Bern (Suïssa)) ; Moreno, Francisca (Hospital Universitario La Fe (València, País Valencià)) ; González Casado, Isabel (Hospital Universitario La Paz (Madrid)) ; López-Siguero, Juan Pedro (Hospital Materno-Infantil (Màlaga, Andalusia)) ; Corripio Collado, Raquel (Corporació Sanitària Parc Taulí (Sabadell, Catalunya)) ; Bermúdez de la Vega, José Antonio (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Blanco, José Antonio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Flück, Christa E. (University Children's Hospital Bern (Suïssa)) ; Universitat Autònoma de Barcelona
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. [...]
2015 - 10.1371/journal.pone.0142831
PloS one, Vol. 10 Núm. 11 (november 2015)  

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