OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea

por Delaney, Angela, Plummer, Lacey, Burkholder, Adam, Mericq, Maria, Merino, Paulina, Quinton, Richard, Lewis, Katie, Meader, Brooke, Meader, Brooke, Shaw, Natalie, Welt, Corrine, Martin, Kathryn, Seminara, Stephanie, Biesecker, Leslie, Bailey-Wilson, Joan, Hall, Janet
Publicado 2019

LBMON114 Enrichment Of Rare Sequence Variants In Genes That Communicate Metabolic Signals To The GnRH System In Hypothalamic Amenorrhea

por Brown, Ethan, Shekhar, Skand, Delaney, Angela, Burkholder, Adam B, Plummer, Lacey, Mericq, Veronica, Merino, Paulina M, Quinton, Richard, Lewis, Katie L, Shaw, Natalie D, Welt, Corrine K, Martin, Kathryn A, Seminara, Stephanie B, Biesecker, Leslie G, Motsinger-Reif, Alison, House, John S, Hall, Janet
Publicado 2022

Phenotypic continuum between Waardenburg syndrome and Idiopathic Hypogonadotropic Hypogonadism in humans with SOX10 mutations

por Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathyrn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M, Mericq, Veronica, Seminara, Stephanie B, Crowley, William F., Balasubramanian, Ravikumar
Publicado 2021

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

por Duckett, Katie, Williamson, Alice, Kincaid, John W R, Rainbow, Kara, Corbin, Laura J, Martin, Hilary C, Eberhardt, Ruth Y, Huang, Qin Qin, Hurles, Matthew E, He, Wen, Brauner, Raja, Delaney, Angela, Dunkel, Leo, Grinspon, Romina P, Hall, Janet E, Hirschhorn, Joel N, Howard, Sasha R, Latronico, Ana C, Jorge, Alexander A L, McElreavey, Ken, Mericq, Verónica, Merino, Paulina M, Palmert, Mark R, Plummer, Lacey, Rey, Rodolfo A, Rezende, Raíssa C, Seminara, Stephanie B, Salnikov, Kathryn, Banerjee, Indraneel, Lam, Brian Y H, Perry, John R B, Timpson, Nicholas J, Clayton, Peter, Chan, Yee-Ming, Ong, Ken K, O’Rahilly, Stephen
Publicado 2023