检索结果 - Virginia Hughes
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Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications 由 Hilana Lewkowitz-Shpuntoff, Virginia Hughes, Lacey Plummer, Margaret Au, Richard L. Doty, Stephanie B. Seminara, Yee-Ming Chan, Nelly Pitteloud, William F. Crowley, Ravikumar Balasubramanian
出版 2011Artigo -
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency 由 Gerasimos P. Sykiotis, Lacey Plummer, Virginia Hughes, Margaret Au, Sadia Durrani, Sadhana Nayak-Young, Andrew Dwyer, Richard Quinton, Janet E. Hall, James F. Gusella, Stephanie B. Seminara, William F. Crowley, Nelly Pitteloud
出版 2010Artigo -
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Expanding the Phenotype and Genotype of Female GnRH Deficiency 由 Natalie D. Shaw, Stephanie B. Seminara, Corrine K. Welt, Margaret Au, Lacey Plummer, Virginia Hughes, Andrew Dwyer, Kathryn A. Martin, Richard Quinton, Verónica Mericq, Paulina M. Merino, James F. Gusella, William F. Crowley, Nelly Pitteloud, Janet E. Hall
出版 2011Artigo -
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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism 由 Nelly Pitteloud, James S. Acierno, Astrid U. Meysing, Anna V. Eliseenkova, Jinghong Ma, Omar A. Ibrahimi, Daniel L. Metzger, Frances J. Hayes, Andrew Dwyer, Virginia Hughes, Maria A. Yialamas, Janet E. Hall, Ellen C. G. Grant, Moosa Mohammadi, William F. Crowley
出版 2006Artigo -
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Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism 由 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
出版 2009Artigo -
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<i>Heparan sulfate 6-O-sulfotransferase 1</i> , a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism 由 Janne Tornberg, Gerasimos P. Sykiotis, Kimberly W. Keefe, Lacey Plummer, Xuan Lan Thi Hoang, Janet E. Hall, Richard Quinton, Stephanie B Seminara, Virginia Hughes, Guy Van Vliet, Stan Van Uum, William F. Crowley, Hiroko Habuchi, Koji Kimata, Nelly Pitteloud, Hannes E. Bülow
出版 2011Artigo -
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A Genetic Basis for Functional Hypothalamic Amenorrhea 由 Lisa M. Caronia, Cecilia Martin, Corrine K. Welt, Gerasimos P. Sykiotis, Richard Quinton, Apisadaporn Thambundit, Magdalena Avbelj Stefanija, Sadhana Dhruvakumar, Lacey Plummer, Virginia Hughes, Stephanie B. Seminara, Paul A. Boepple, Yisrael Sidis, William F. Crowley, Kathryn A. Martin, Janet E. Hall, Nelly Pitteloud
出版 2011Artigo -
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Mutations in<i>Prokineticin 2</i>and<i>Prokineticin receptor 2</i>genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum 由 Lindsay W. Cole, Yisrael Sidis, Chengkang Zhang, Richard Quinton, Lacey Plummer, Duarte Pignatelli, Virginia Hughes, Andrew Dwyer, Taneli Raivio, Frances J. Hayes, Stephanie B. Seminara, Céline Huot, Nathalie Alos, Phyllis Speiser, Akira Takeshita, Guy VanVliet, Simon H. S. Pearce, William F. Crowley, Qun‐Yong Zhou, Nelly Pitteloud
出版 2008Artigo -
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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice 由 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
出版 2008Artigo -
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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism 由 Nelly Pitteloud, Richard Quinton, Simon H. S. Pearce, Taneli Raivio, James S. Acierno, Andrew Dwyer, Lacey Plummer, Virginia Hughes, Stephanie B. Seminara, Yuzhu Cheng, Weiping Li, Gavin MacColl, Anna V. Eliseenkova, Shaun K. Olsen, Omar A. Ibrahimi, Frances J. Hayes, Paul A. Boepple, Janet E. Hall, Pierre Bouloux, Moosa Mohammadi, William F. Crowley
出版 2007Artigo
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