Výsledky vyhledávání - Elka Jacobson-Dickman
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Loss-of-function mutation in the <i>prokineticin 2</i> gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism Autor Nelly Pitteloud, Chengkang Zhang, Duarte Pignatelli, Jia‐Da Li, Taneli Raivio, Lindsay W. Cole, Lacey Plummer, Elka Jacobson-Dickman, Pamela L. Mellon, Qun‐Yong Zhou, William F. Crowley
Vydáno 2007Artigo -
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Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism Autor Taneli Raivio, Yisrael Sidis, Lacey Plummer, Huaibin Chen, Jinghong Ma, Abir Mukherjee, Elka Jacobson-Dickman, Richard Quinton, Guy Van Vliet, Hélène B. Lavoie, Virginia Hughes, Andrew Dwyer, Frances J. Hayes, Shuyun Xu, Susan Sparks, Ursula B. Kaiser, Moosa Mohammadi, Nelly Pitteloud
Vydáno 2009Artigo -
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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice Autor John Falardeau, W. C. Chung, Andrew Beenken, Taneli Raivio, Lacey Plummer, Yisrael Sidis, Elka Jacobson-Dickman, Anna V. Eliseenkova, Jinghong Ma, Andrew Dwyer, Richard Quinton, Sandra Na, Janet E. Hall, Céline Huot, Natalie Alois, Simon H. S. Pearce, Lindsay W. Cole, Virginia Hughes, Moosa Mohammadi, Pei‐San Tsai, Nelly Pitteloud
Vydáno 2008Artigo -
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An ancient founder mutation in PROKR2 impairs human reproduction Autor Magdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P. Sykiotis, Jacques Young, Richard Quinton, Ana Paula Abreu, Lacey Plummer, Margaret Au, Ravikumar Balasubramanian, Andrew Dwyer, José C. Florez, Timothy Cheetham, Simon H. S. Pearce, Radhika Purushothaman, Albert Schinzel, Michel Pugeat, Elka Jacobson-Dickman, Svetlana Ten, Ana Cláudia Latronico, James F. Gusella, Catherine Dodé, William F. Crowley, Nelly Pitteloud
Vydáno 2012Artigo -
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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations Autor Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gérard, Juliane Léger, Valérie Drouin‐Garraud, Hervé Lefèbvre, Michel Polak, Jean‐Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolás de Roux, Nelly Pitteloud
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Biology
Internal medicine
Medicine
Endocrinology
Gene
Genetics
Hormone
Mutation
Coronavirus disease 2019 (COVID-19)
Disease
Hypogonadotropic hypogonadism
Infectious disease (medical specialty)
Kallmann syndrome
Anosmia
Fibroblast growth factor
Fibroblast growth factor receptor 1
Pediatrics
Population
Proband
Receptor
Adrenal insufficiency
Adverse effect
Allele
Asymptomatic
CHARGE syndrome
Central nervous system
Context (archaeology)
Delayed puberty
Demography
Diabetes mellitus