Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

por Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
Publicado 2014

Mutations in Nicotinamide Nucleotide Transhydrogenase (NNT) cause familial glucocorticoid deficiency

por Meimaridou, Eirini, Kowalczyk, Julia, Guasti, Leonardo, Hughes, Claire R., Wagner, Florian, Frommolt, Peter, Nürnberg, Peter, Mann, Nicholas P., Banerjee, Ritwik, Saka, H. Nurcin, Chapple, J. Paul, King, Peter J., Clark, Adrian J.L., Metherell, Louise A.
Publicado 2012

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)

por Man, Elim, Mushtaq, Imran, Barnicoat, Angela, Carmichael, Polly, Hughes, Claire R, Davies, Kate, Aitkenhead, Helen, Amin, Rakesh, Buchanan, Charles R, Cherian, Abraham, Costa, Nikola J, Creighton, Sarah M, Duffy, Patrick G, Hewson, Emma, Hindmarsh, Peter C, Monzani, Louisa C, Peters, Catherine J, Ransley, Philip G, Smeulders, Naima, Spoudeas, Helen A, Wood, Dan, Hughes, Ieuan A, Katugampola, Harshini, Brain, Caroline E, Dattani, Mehul T, Achermann, John C
Publicado 2022

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

por Buonocore, Federica, Maharaj, Avinaash, Qamar, Younus, Koehler, Katrin, Suntharalingham, Jenifer P, Chan, Li F, Ferraz-de-Souza, Bruno, Hughes, Claire R, Lin, Lin, Prasad, Rathi, Allgrove, Jeremy, Andrews, Edward T, Buchanan, Charles R, Cheetham, Tim D, Crowne, Elizabeth C, Davies, Justin H, Gregory, John W, Hindmarsh, Peter C, Hulse, Tony, Krone, Nils P, Shah, Pratik, Shaikh, M Guftar, Roberts, Catherine, Clayton, Peter E, Dattani, Mehul T, Thomas, N Simon, Huebner, Angela, Clark, Adrian J, Metherell, Louise A, Achermann, John C
Publicado 2021

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

por Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P, Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R, Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D, Brain, Caroline E, Suntharalingham, Jenifer P, Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A, Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S, McInerney-Leo, Aideen M, Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P, Harris, Mark, Duncan, Emma L, Hindmarsh, Peter C, Auchus, Richard J, Donaldson, Malcolm D, Achermann, John C, Metherell, Louise A
Publicado 2018