Genetic Counseling for Isolated GnRH Deficiency

Por Au, Margaret G., Crowley, William F., Buck, Cassandra L.
Publicado em 2011

A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

Por Zhu, Jia, Choa, Ruth E.-Y., Guo, Michael H., Plummer, Lacey, Buck, Cassandra, Palmert, Mark R., Hirschhorn, Joel N., Seminara, Stephanie B., Chan, Yee-Ming
Publicado no J Clin Endocrinol Metab (2015)

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Por Teive, Hélio Afonso Ghizoni, Camargo, Carlos Henrique F., Sato, Mario Teruo, Shiokawa, Naoye, Boguszewski, Cesar L., Raskin, Salmo, Buck, Cassandra, Seminara, Stephanie B., Munhoz, Renato Puppi
Publicado no Cerebellum (2018)

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Por Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Publicado em 2013

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

Por Choi, Jin-Ho, Balasubramanian, Ravikumar, Lee, Phil H., Shaw, Natalie D., Hall, Janet E., Plummer, Lacey, Buck, Cassandra L., Kottler, Marie-Laure, Jarzabek, Katarzyna, Wołczynski, Sławomir, Quinton, Richard, Latronico, Ana Claudia, Dode, Catherine, Ogata, Tsutomu, Kim, Hyung-Goo, Layman, Lawrence C., Gusella, James F., Crowley, William F.
Publicado no J Clin Endocrinol Metab (2015)

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Por 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.
Publicado no Proc Natl Acad Sci U S A (2014)