Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-p...

Por Dwyer, Andrew A, Quinton, Richard, Morin, Diane, Pitteloud, Nelly
Publicado em 2014

Psychosexual Development in Men with Congenital Hypogonadotropic Hypogonadism on Long-Term Treatment: A Mixed Methods Study

Por Dwyer, Andrew A, Quinton, Richard, Pitteloud, Nelly, Morin, Diane
Publicado no Sex Med (2015)

The Long-Term Clinical Follow-Up and Natural History of Men with Adult-Onset Idiopathic Hypogonadotropic Hypogonadism

Por Dwyer, Andrew A., Hayes, Frances J., Plummer, Lacey, Pitteloud, Nelly, Crowley, William F.
Publicado em 2010

Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

Por Dzemaili, Shota, Tiemensma, Jitske, Quinton, Richard, Pitteloud, Nelly, Morin, Diane, Dwyer, Andrew A
Publicado no Endocr Connect (2017)

Relative Roles of Inhibin B and Sex Steroids in the Negative Feedback Regulation of Follicle-Stimulating Hormone in Men across the Full Spectrum of Seminiferous Epithelium Function

Por Boepple, Paul A., Hayes, Frances J., Dwyer, Andrew A., Raivio, Taneli, Lee, Hang, Crowley, William F., Pitteloud, Nelly
Publicado em 2008

Inhibition of Luteinizing Hormone Secretion by Testosterone in Men Requires Aromatization for Its Pituitary But Not Its Hypothalamic Effects: Evidence from the Tandem Study of Norm...

Por Pitteloud, Nelly, Dwyer, Andrew A., DeCruz, Suzzunne, Lee, Hang, Boepple, Paul A., Crowley, William F., Hayes, Frances J.
Publicado em 2008

The Relative Role of Gonadal Sex Steroids and Gonadotropin-Releasing Hormone Pulse Frequency in the Regulation of Follicle-Stimulating Hormone Secretion in Men

Por Pitteloud, Nelly, Dwyer, Andrew A., DeCruz, Suzzunne, Lee, Hang, Boepple, Paul A., Crowley, William F., Hayes, Frances J.
Publicado em 2008

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

Por Xu, Cheng, Lang-Muritano, Mariarosaria, Phan-Hug, Franziska, Dwyer, Andrew A., Sykiotis, Gerasimos P., Cassatella, Daniele, Acierno, James, Mohammadi, Moosa, Pitteloud, Nelly
Publicado no Clin Genet (2017)

Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2

Por Balasubramanian, Ravikumar, Cohen, Daniel A., Klerman, Elizabeth B., Pignatelli, Duarte, Hall, Janet E., Dwyer, Andrew A., Czeisler, Charles A., Pitteloud, Nelly, Crowley, William F.
Publicado em 2014

Role of Seminiferous Tubular Development in Determining the FSH versus LH Responsiveness to GnRH in Early Sexual Maturation

Por Pitteloud, Nelly, Thambundit, Apisadaporn, Dwyer, Andrew A., Falardeau, John L., Plummer, Lacey, Caronia, Lisa M., Hayes, Frances J., Lee, Hang, Boepple, Paul A., Crowley, William F.
Publicado em 2009

The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations

Por Martin, Cecilia, Balasubramanian, Ravikumar, Dwyer, Andrew A., Au, Margaret G., Sidis, Yisrael, Kaiser, Ursula B., Seminara, Stephanie B., Pitteloud, Nelly, Zhou, Qun-Yong, Crowley, William F.
Publicado em 2011

Trial of Recombinant Follicle-Stimulating Hormone Pretreatment for GnRH-Induced Fertility in Patients with Congenital Hypogonadotropic Hypogonadism

Por Dwyer, Andrew A., Sykiotis, Gerasimos P., Hayes, Frances J., Boepple, Paul A., Lee, Hang, Loughlin, Kevin R., Dym, Martin, Sluss, Patrick M., Crowley, William F., Pitteloud, Nelly
Publicado em 2013

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Por Sykiotis, Gerasimos P., Plummer, Lacey, Hughes, Virginia A., Au, Margaret, Durrani, Sadia, Nayak-Young, Sadhana, Dwyer, Andrew A., Quinton, Richard, Hall, Janet E., Gusella, James F., Seminara, Stephanie B., Crowley, William F., Pitteloud, Nelly
Publicado em 2010

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Por Pitteloud, Nelly, Acierno, James S., Meysing, Astrid, Eliseenkova, Anna V., Ma, Jinghong, Ibrahimi, Omar A., Metzger, Daniel L., Hayes, Frances J., Dwyer, Andrew A., Hughes, Virginia A., Yialamas, Maria, Hall, Janet E., Grant, Ellen, Mohammadi, Moosa, Crowley, William F.
Publicado em 2006

Expanding the Phenotype and Genotype of Female GnRH Deficiency

Por 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.
Publicado em 2011

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

Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Por Cole, Lindsay W., Sidis, Yisrael, Zhang, ChengKang, Quinton, Richard, Plummer, Lacey, Pignatelli, Duarte, Hughes, Virginia A., Dwyer, Andrew A., Raivio, Taneli, Hayes, Frances J., Seminara, Stephanie B., Huot, Celine, Alos, Nathalie, Speiser, Phyllis, Takeshita, Akira, VanVliet, Guy, Pearce, Simon, Crowley, William F., Zhou, Qun-Yong, Pitteloud, Nelly
Publicado em 2008

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

Por Raivio, Taneli, Avbelj, Magdalena, McCabe, Mark J., Romero, Christopher J., Dwyer, Andrew A., Tommiska, Johanna, Sykiotis, Gerasimos P., Gregory, Louise C., Diaczok, Daniel, Tziaferi, Vaitsa, Elting, Mariet W., Padidela, Raja, Plummer, Lacey, Martin, Cecilia, Feng, Bihua, Zhang, Chengkang, Zhou, Qun-Yong, Chen, Huaibin, Mohammadi, Moosa, Quinton, Richard, Sidis, Yisrael, Radovick, Sally, Dattani, Mehul T., Pitteloud, Nelly
Publicado em 2012

An ancient founder mutation in PROKR2 impairs human reproduction

Por Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly
Publicado em 2012

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Por Villanueva, Carine, Jacobson-Dickman, Elka, Xu, Cheng, Manouvrier, Sylvie, Dwyer, Andrew A., Sykiotis, Gerasimos P., Beenken, Andrew, Liu, Yang, Tommiska, Johanna, Hu, Youli, Tiosano, Dov, Gerard, Marion, Leger, Juliane, Drouin-Garraud, Valérie, Lefebvre, Hervé, Polak, Michel, Carel, Jean-Claude, Phan-Hug, Franziska, Hauschild, Michael, Plummer, Lacey, Rey, Jean-Pierre, Raivio, Taneli, Bouloux, Pierre, Sidis, Yisrael, Mohammadi, Moosa, de Roux, Nicolas, Pitteloud, Nelly
Publicado no Genet Med (2014)