Management of a Girl With Delayed Puberty and Elevated Gonadotropins

por McGlacken-Byrne, Sinéad M, Achermann, John C, Conway, Gerard S
Publicado 2022

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

por Ko, Jennifer K Y, King, Thomas F J, Williams, Louise, Creighton, Sarah M, Conway, Gerard S
Publicado 2017

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency

por El-Khairi, Ranna, Parnaik, Rahul, Duncan, Andrew J., Lin, Lin, Gerrelli, Dianne, Dattani, Mehul T., Conway, Gerard S., Achermann, John C.
Publicado 2012

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia A...

por Han, Thang S, Krone, Nils, Willis, Debbie S, Conway, Gerard S, Hahner, Stefanie, Rees, D Aled, Stimson, Roland H, Walker, Brian R, Arlt, Wiebke, Ross, Richard J
Publicado 2013

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

por Suntharalingham, Jenifer P., Ishida, Miho, Cameron-Pimblett, Antoinette, McGlacken-Byrne, Sinead M., Buonocore, Federica, del Valle, Ignacio, Madhan, Gaganjit Kaur, Brooks, Tony, Conway, Gerard S., Achermann, John C.
Publicado 2023

STAG3 truncating variant as the cause of primary ovarian insufficiency

por Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S
Publicado 2016

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

por Buonocore, Federica, Clifford-Mobley, Oliver, King, Tom F J, Striglioni, Niccolò, Man, Elim, Suntharalingham, Jenifer P, del Valle, Ignacio, Lin, Lin, Lagos, Carlos F, Rumsby, Gill, Conway, Gerard S, Achermann, John C
Publicado 2019

A Long-Acting Human Growth Hormone With Delayed Clearance (VRS-317): Results of a Double-Blind, Placebo-Controlled, Single Ascending Dose Study in Growth Hormone–Deficient Adults

por Yuen, Kevin C. J., Conway, Gerard S., Popovic, Vera, Merriam, George R., Bailey, Timothy, Hamrahian, Amir H., Biller, Beverly M. K., Kipnes, Mark, Moore, Jerome A., Humphriss, Eric, Bright, George M., Cleland, Jeffrey L.
Publicado 2013

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

por McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S
Publicado 2021

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

por Ruiz-Babot, Gerard, Balyura, Mariya, Hadjidemetriou, Irene, Ajodha, Sharon J., Taylor, David R., Ghataore, Lea, Taylor, Norman F., Schubert, Undine, Ziegler, Christian G., Storr, Helen L., Druce, Maralyn R., Gevers, Evelien F., Drake, William M., Srirangalingam, Umasuthan, Conway, Gerard S., King, Peter J., Metherell, Louise A., Bornstein, Stefan R., Guasti, Leonardo
Publicado 2018

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

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

por McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu
Publicado 2019

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

por Auchus, Richard J., Witchel, Selma Feldman, Leight, Kelly R., Aisenberg, Javier, Azziz, Ricardo, Bachega, Tânia A., Baker, Linda A., Baratz, Arlene B., Baskin, Laurence S., Berenbaum, Sheri A., Breault, David T., Cerame, Barbara I., Conway, Gerard S., Eugster, Erica A., Fracassa, Stephanie, Gearhart, John P., Geffner, Mitchell E., Harris, Katharine B., Hurwitz, Richard S., Katz, Aviva L., Kalro, Brinda N., Lee, Peter A., Alger Lin, Gretchen, Loechner, Karen J., Marshall, Ian, Merke, Deborah P., Migeon, Claude J., Miller, Walter L., Nenadovich, Tamara L., Oberfield, Sharon E., Pass, Kenneth A., Poppas, Dix P., Lloyd-Puryear, Michele A., Quigley, Charmian A., Riepe, Felix G., Rink, Richard C., Rivkees, Scott A., Sandberg, David E., Schaeffer, Traci L., Schlussel, Richard N., Schneck, Francis X., Seely, Ellen W., Snyder, Diane, Speiser, Phyllis W., Therrell, Bradford L., VanRyzin, Carol, Vogiatzi, Maria G., Wajnrajch, Michael P., White, Perrin C., Zuckerman, Alan E.
Publicado 2010