Clinical Management of Congenital Hypogonadotropic Hypogonadism von Young, Jacques, Xu, Cheng, Papadakis, Georgios E, Acierno, James S, Maione, Luigi, Hietamäki, Johanna, Raivio, Taneli, Pitteloud, Nelly

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The GPR54 Gene as a Regulator of Puberty von Seminara, Stephanie B, Messager, Sophie, Chatzidaki, Emmanouella E, Thresher, Rosemary R, Acierno, James S, Shagoury, Jenna K, Bo-Abbas, Yousef, Kuohung, Wendy, Schwinof, Kristine M, Hendrick, Alan G, Zahn, Dirk, Dixon, John, Kaiser, Ursula B, Slaugenhaupt, Susan A, Gusella, James F, O'Rahilly, Stephen, Carlton, Mark B.L, Crowley, William F, Aparicio, Samuel A.J.R, Colledge, William H

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Mutations in Fibroblast Growth Factor Receptor 1 Cause Both Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism von 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.

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Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome von Barraud, Sara, Delemer, Brigitte, Poirsier-Violle, Céline, Bouligand, Jérôme, Mérol, Jean-Claude, Grange, Florent, Higel-Chaufour, Brigitte, Decoudier, Bénédicte, Zalzali, Mohamad, Dwyer, Andrew A., Acierno, James S, Pitteloud, Nelly , Millar, Robert P., Young, Jacques

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Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3 von Zeng, Wen-Qi, Al-Yamani, Eiman, Acierno, James S., Slaugenhaupt, Susan, Gillis, Tammy, MacDonald, Marcy E., Ozand, Pinar T., Gusella, James F.

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Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes von Pitteloud, Nelly, Meysing, Astrid, Quinton, Richard, Acierno, James S., Dwyer, Andrew A., Plummer, Lacey, Fliers, Eric, Boepple, Paul, Hayes, Frances, Seminara, Stephanie, Hughes, Viriginia A., Ma, Jinghong, Bouloux, Pierre, Mohammadi, Moosa, Crowley, William F.

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Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH) von Miura, Kiyonori, Acierno, James S., Seminara, Stephanie B.

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β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue von Somm, Emmanuel, Henry, Hugues, Bruce, Stephen J, Aeby, Sébastien, Rosikiewicz, Marta, Sykiotis, Gerasimos P, Asrih, Mohammed, Jornayvaz, François R, Denechaud, Pierre Damien, Albrecht, Urs, Mohammadi, Moosa, Dwyer, Andrew, Acierno, Jr, James S, Schoonjans, Kristina, Fajas, Lluis, Greub, Gilbert, Pitteloud, Nelly

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Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene von Marino, Laura, Messina, Andrea, S Acierno, James, Phan-Hug, Franziska, J Niederländer, Nicolas, Santoni, Federico, La Rosa, Stefano, Pitteloud, Nelly

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Reversible Kallmann Syndrome, Delayed Puberty, and Isolated Anosmia Occurring in a Single Family with a Mutation in the Fibroblast Growth Factor Receptor 1 Gene von Pitteloud, Nelly, Acierno, James S., Meysing, Astrid U., Dwyer, Andrew A., Hayes, Frances J., Crowley, William F.

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A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 von Freed, Lisa A., Acierno, James S., Dai, Daisy, Leyne, Maire, Marshall, Jane E., Nesta, Francesca, Levine, Robert A., Slaugenhaupt, Susan A.

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures von Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly

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DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development von Bouilly, Justine, Messina, Andrea, Papadakis, Georgios, Cassatella, Daniele, Xu, Cheng, Acierno, James S, Tata, Brooke, Sykiotis, Gerasimos, Santini, Sara, Sidis, Yisrael, Elowe-Gruau, Eglantine, Phan-Hug, Franziska, Hauschild, Michael, Bouloux, Pierre-Marc, Quinton, Richard, Lang-Muritano, Mariarosaria, Favre, Lucie, Marino, Laura, Giacobini, Paolo, Dwyer, Andrew A, Niederländer, Nicolas J, Pitteloud, Nelly

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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism von Acierno, James S., Xu, Cheng, Papadakis, Georgios E., Niederländer, Nicolas J., Rademaker, Jesse D., Meylan, Jenny, Messina, Andrea, Kolesinska, Zofia, Quinton, Richard, Lang-Muritano, Mariarosaria, Bartholdi, Deborah, Halperin, Irene, De Geyter, Christian, Bouligand, Jérôme, Bartoloni, Lucia, Young, Jacques, Santoni, Federico A., Pitteloud, Nelly

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Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism: Genetic Analysis Excludes Mutations in the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes von Bo-Abbas, Yousef, Acierno, James S., Shagoury, Jenna K., Crowley, William F., Seminara, Stephanie B.

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Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions von Smoller, Jordan W., Acierno Jr, James S., Rosenbaum, Jerrold F., Biederman, Joseph, Pollack, Mark H., Meminger, Susan, Pava, Joel A., Chadwick, Lisa H., White, Candace, Bulzacchelli, Maria, Slaugenhaupt, Susan A.

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GNRHR Mutations in a Woman with Idiopathic Hypogonadotropic Hypogonadism Highlight the Differential Sensitivity of Luteinizing Hormone and Follicle-Stimulating Hormone to Gonadotro... von Meysing, Astrid U., Kanasaki, Haruhiko, Bedecarrats, Gregoy Y., Acierno, James S., Conn, P. Michael, Martin, Kathryn A., Seminara, Stephanie B., Hall, Janet E., Crowley, William F., Kaiser, Ursula B.

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Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel von MEI SUN, GOLDIN, Ehud, COLMAN, Matthew, SCHIFFMANN, Raphael, SLAUGENHAUPT, Susan A, STAHL, Stefanie, FALARDEAU, John L, KENNEDY, John C, ACIERNO, James S, BOVE, Catherine, KANESKI, Christine R, NAGLE, James, BROMLEY, Matthew C

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A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3 von Acierno Jr, James S., Shagoury, Jenna K., Bo-Abbas, Yøusef, Crowley Jr, William F., Seminara, Stephanie B.

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Vitamin d inhibition of prostate adenocarcinoma growth and metastasis in the dunning rat prostate model system von Getzenberg, Robert H., Light, Benjamin W., Lapco, Paul E., Konety, Badrinath R., Nangia, Ajay K., Acierno, James S., Dhir, Rajiv, Shurin, Zoya, Day, Roger S., Trump, Donald L., Johnson, Candace S.

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