Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing

por Hughes, Alice E., Houghton, Jayne A. L., Bunce, Benjamin, Chakera, Ali J., Spyer, Gill, Shepherd, Maggie H., Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2023

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

por Clissold, Rhian L., Shaw-Smith, Charles, Turnpenny, Peter, Bunce, Benjamin, Bockenhauer, Detlef, Kerecuk, Larissa, Waller, Simon, Bowman, Pamela, Ford, Tamsin, Ellard, Sian, Hattersley, Andrew T., Bingham, Coralie
Publicado 2016

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management

por Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian, Ellard, Sian, Korbonits, Márta
Publicado 2016

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

por Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publicado 2016