Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates

por Terasawa, Ei, Garcia, James P., Seminara, Stephanie B., Keen, Kim L.
Publicado 2018

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome

por Xu, Wanxue, Plummer, Lacey, Quinton, Richard, Swords, Francesca, Crowley, William F., Seminara, Stephanie B., Balasubramanian, Ravikumar
Publicado 2020

Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans

por Hoskova, Katerina, Kayton Bryant, Nora, Chen, Margaret E, Nachtigall, Lisa B, Lippincott, Margaret F, Balasubramanian, Ravikumar, Seminara, Stephanie B
Publicado 2022

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study

por Dwyer, Andrew A., Stamou, Maria, McDonald, Isabella R., Anghel, Ella, Cox, Kimberly H., Salnikov, Kathryn B., Plummer, Lacey, Seminara, Stephanie B., Balasubramanian, Ravikumar
Publicado 2022

FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypogonadotropic Hypogonadism With Phenotypic Pleiotropic Intersection With Cerebellar Malformation

por Cassin, Jessica, Keefe, David L, Sung, Kaitlin E, Bojo, Celine C, Santiago, Gisselle, Plummer, Lacey, Salnikov, Kathryn B, Seminara, Stephanie B, Balasubramania, Ravikumar, Mellon, Pamela L
Publicado 2023

THU206 Constitutional Delay Of Puberty And Idiopathic Hypogonadotropic Hypogonadism: Differential Contributions Of Common Genetic Variants

por Lippincott, Margaret Flynn, Schafer, Evan, Hindman, Anna A, Brauner, Raja, Delaney, Angela, McElreavey, Ken, Hall, Janet E, Hirschhorn, Joel N, Palmert, Mark R, Seminara, Stephanie B, Salem, Rany M, Chan, Yee-Ming
Publicado 2023

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

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

por Cho, Hyun-Ju, Gurbuz, Fatih, Stamou, Maria, Kotan, Leman Damla, Farmer, Stephen Matthew, Can, Sule, Tompkins, Miranda Faith, Mammadova, Jamala, Altincik, S. Ayca, Gokce, Cumali, Catli, Gonul, Bugrul, Fuat, Bartlett, Keenan, Turan, Ihsan, Balasubramanian, Ravikumar, Yuksel, Bilgin, Seminara, Stephanie B., Wray, Susan, Topaloglu, A. Kemal
Publicado 2023

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

DLG2 variants in patients with pubertal disorders

por Jee, Youn Hee, Won, Sehoon, Lui, Julian C., Jennings, Melissa, Whalen, Philip, Yue, Shanna, Temnycky, Adrian G., Barnes, Kevin M., Cheetham, Tim, Boden, Matthew G., Radovick, Sally, Quinton, Richard, Leschek, Ellen W., Aguilera, Greti, Yanovski, Jack A., Seminara, Stephanie B., Crowley, William F., Delaney, Angela, Roche, Katherine W., Baron, Jeffrey
Publicado 2020

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

por Cassin, Jessica, Stamou, Maria I., Keefe, Kimberly W., Sung, Kaitlin E., Bojo, Celine C., Tonsfeldt, Karen J., Rojas, Rebecca A., Ferreira Lopes, Vanessa, Plummer, Lacey, Salnikov, Kathryn B., Keefe, David L., Ozata, Metin, Genel, Myron, Georgopoulos, Neoklis A., Hall, Janet E., Crowley, William F., Seminara, Stephanie B., Mellon, Pamela L., Balasubramanian, Ravikumar
Publicado 2023

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