Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence

著者: Shahab, Muhammad, Lippincott, Margaret, Chan, Yee-Ming, Davies, Addie, Merino, Paulina M, Plummer, Lacey, Mericq, Veronica, Seminara, Stephanie
出版年 J Clin Endocrinol Metab (2018)

Expanding the Phenotype and Genotype of Female GnRH Deficiency

著者: Shaw, Natalie D., Seminara, Stephanie B., Welt, Corrine K., Au, Margaret G., Plummer, Lacey, Hughes, Virginia A., Dwyer, Andrew A., Martin, Kathryn A., Quinton, Richard, Mericq, Veronica, Merino, Paulina M., Gusella, James F., Crowley, William F., Pitteloud, Nelly, Hall, Janet E.
出版事項 2011

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea

著者: Delaney, Angela, Burkholder, Adam B, Lavender, Christopher A, Plummer, Lacey, Mericq, Veronica, Merino, Paulina M, Quinton, Richard, Lewis, Katie L, Meader, Brooke N, Albano, Alessandro, Shaw, Natalie D, Welt, Corrine K, Martin, Kathryn A, Seminara, Stephanie B, Biesecker, Leslie G, Bailey-Wilson, Joan E, Hall, Janet E
出版年 J Clin Endocrinol Metab (2020)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

著者: Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Al Tassan, Nada, Katsanis, Nicholas, Crowley, William F.
出版年 Proc Natl Acad Sci U S A (2014)

When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

著者: Gianetti, Elena, Hall, Janet E., Au, Margaret G., Kaiser, Ursula B., Quinton, Richard, Stewart, Jane A., Metzger, Daniel L., Pitteloud, Nelly, Mericq, Veronica, Merino, Paulina M., Levitsky, Lynne L., Izatt, Louise, Lang-Muritano, Mariarosaria, Fujimoto, Victor Y., Dluhy, Robert G., Chase, Matthew L., Crowley, William F., Plummer, Lacey, Seminara, Stephanie B.
出版事項 2012