Testicular–Epididymal Dissociation: Vas and Vessels May “Lead up the Garden Path”

por Papageorgiou, Eleni, Mantovani, Alberto, Monti, Elena, Brain, Caroline, Smeulders, Naima, Cherian, Abraham
Publicado 2019

Holistic management of DSD

por Brain, Caroline E., Creighton, Sarah M., Mushtaq, Imran, Carmichael, Polly A., Barnicoat, Angela, Honour, John W., Larcher, Victor, Achermann, John C.
Publicado 2010

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

por Lin, Lin, Hindmarsh, Peter C, Metherell, Louise A, Alzyoud, Mahmoud, Al-Ali, Maryam, Brain, Caroline E, Clark, Adrian J L, Dattani, Mehul T, Achermann, John C
Publicado 2007

Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency

por McGlacken-Byrne, Sinéad M., Del Valle, Ignacio, Quesne Stabej, Polona Le, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A., Ishida, Miho, Suntharalingham, Jenifer P., Gagunashvili, Andrey, Ogunbiyi, Olumide K., Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E., Dattani, Mehul T., Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F., Livera, Gabriel, Conway, Gerard S., Achermann, John C.
Publicado 2022

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

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