Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CYP11B1: 1343G>A; Arg448His
Rare cause of a resistant hypertension in a middle-aged man: A case report.
Clinical Case Reports
Marecek, Renata R; De Keyzer, Eva E; Taujan, Georgiana G; Baleanu, Felicia F; Rosu, Mihaela M; Papadopoulou, Ioanna I; Kosmopoulou, Olga O; Laura, Iconaru I
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X.
Colombia Medica (Cali, Colombia)
Matallana-Rhoades, Audrey Mary AM; Corredor-Castro, Juan David JD; Bonilla-Escobar, Francisco Javier FJ; Mecias-Cruz, Bony Valentina BV; Mejia de Beldjena, Liliana L
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
The Journal Of Clinical Endocrinology And Metabolism
Parajes, Silvia S; Loidi, Lourdes L; Reisch, Nicole N; Dhir, Vivek V; Rose, Ian T IT; Hampel, Rainer R; Quinkler, Marcus M; Conway, Gerard S GS; Castro-Feijóo, Lidia L; Araujo-Vilar, David D; Pombo, Manuel M; Dominguez, Fernando F; Williams, Emma L EL; Cole, Trevor R TR; Kirk, Jeremy M JM; Kaminsky, Elke E; Rumsby, Gill G; Arlt, Wiebke W; Krone, Nils N
Publication Date: 2010-02
Variant appearance in text: CYP11B1: 1343G>A; R448H