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Precision medicine in the era of artificial intelligence: implications in chronic disease management
Author / Creator:Subramanian, Murugan ; Wojtusciszyn, Anne ; Favre, Lucie ; Boughorbel, Sabri ; Shan, Jingxuan ; Letaief, Khaled B. ; Pitteloud, Nelly ; Chouchane, Lotfi
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2020-12, Vol.18 (1), p.472-12, Article 472
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Clinical Management of Congenital Hypogonadotropic Hypogonadism
Author / Creator:Young, Jacques ; Xu, Cheng ; Papadakis, Georgios E ; Acierno, James S ; Maione, Luigi ; Hietamäki, Johanna ; Raivio, Taneli ; Pitteloud, Nelly
Publisher:Washington, DC: Endocrine Society
Journal title:Endocrine reviews, 2019-04, Vol.40 (2), p.669-710
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Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
Author / Creator:Malone, Samuel Andrew ; Papadakis, Georgios E ; Messina, Andrea ; Mimouni, Nour El Houda ; Trova, Sara ; Imbernon, Monica ; Allet, Cecile ; Cimino, Irene ; Acierno, James ; Cassatella, Daniele ; Xu, Cheng ; Quinton, Richard ; Szinnai, Gabor ; Pigny, Pascal ; Alonso-Cotchico, Lur ; Masgrau, Laura ; Maréchal, Jean-Didier ; Prevot, Vincent ; Pitteloud, Nelly ; Giacobini, Paolo
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2019-07, Vol.8
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Effects of empagliflozin on reproductive system in men without diabetes
Author / Creator:Kosinski, Christophe ; Papadakis, Georgios E. ; Salamin, Olivier ; Kuuranne, Tiia ; Nicoli, Raul ; Pitteloud, Nelly ; Zanchi, Anne
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.13802-4, Article 13802
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Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis
Author / Creator:Starnoni, Daniele ; Daniel, Roy Thomas ; Marino, Laura ; Pitteloud, Nelly ; Levivier, Marc ; Messerer, Mahmoud
Publisher:Vienna: Springer Vienna
Journal title:Acta neurochirurgica, 2016-11, Vol.158 (11), p.2109-2121
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Circulatory lipid signature in response to short-term testosterone gel treatment of healthy young females
Author / Creator:Salamin, Olivier ; Carrard, Justin ; Teav, Toni ; Borreggine, Rebecca ; Medina, Jessica ; Nicoli, Raul ; Kuuranne, Tiia ; Saugy, Martial ; Pitteloud, Nelly ; Gallart-Ayala, Hector ; Ivanisevic, Julijana
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-03, Vol.15 (1), p.10870-13, Article 10870
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Author / Creator: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 ; Donahoe, Patricia K.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144
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Thyrotropin-secreting pituitary adenomas: a systematic review and meta-analysis of postoperative outcomes and management
Author / Creator:Cossu, Giulia ; Daniel, Roy Thomas ; Pierzchala, Katarzyna ; Berhouma, Moncef ; Pitteloud, Nelly ; Lamine, Faiza ; Colao, Annamaria ; Messerer, Mahmoud
Publisher:New York: Springer US
Journal title:Pituitary, 2019-02, Vol.22 (1), p.79-88
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Combined immune checkpoint inhibitor therapy with nivolumab and ipilimumab causing acute-onset type 1 diabetes mellitus following a single administration: two case reports
Author / Creator:Zezza, Marco ; Kosinski, Christophe ; Mekoguem, Carine ; Marino, Laura ; Chtioui, Haithem ; Pitteloud, Nelly ; Lamine, Faiza
Publisher:England: BioMed Central Ltd
Journal title:BMC endocrine disorders, 2019-12, Vol.19 (1), p.144-5, Article 144
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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism
Author / Creator:Zouaghi, Yassine ; Choudhary, Anbreen Mazhar ; Irshad, Saba ; Adamo, Michela ; Rehman, Khaleeq ur ; Fatima, Ambrin ; Shahid, Mariam ; Najmi, Nida ; De Azevedo Correa, Fernanda ; Habibi, Imen ; Boizot, Alexia ; Niederländer, Nicolas J. ; Ansar, Muhammad ; Santoni, Federico ; Acierno, James ; Pitteloud, Nelly
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2024-08, Vol.25 (1), p.787-9, Article 787
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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
Author / Creator:Tornberg, Janne ; Sykiotis, Gerasimos P ; Keefe, Kimberly ; Plummer, Lacey ; Hoang, Xuan ; Hall, Janet E ; Quinton, Richard ; Seminara, Stephanie B ; Hughes, Virginia ; Van Vliet, Guy ; Van Uum, Stan ; Crowley, William F ; Habuchi, Hiroko ; Kimata, Koji ; Pitteloud, Nelly ; BÃ¼low, Hannes E
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (28), p.11524-11529
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KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Author / Creator:Xu, Cheng ; Messina, Andrea ; Somm, Emmanuel ; Miraoui, Hichem ; Kinnunen, Tarja ; Acierno, James ; Niederländer, Nicolas J ; Bouilly, Justine ; Dwyer, Andrew A ; Sidis, Yisrael ; Cassatella, Daniele ; Sykiotis, Gerasimos P ; Quinton, Richard ; De Geyter, Christian ; Dirlewanger, Mirjam ; Schwitzgebel, Valérie ; Cole, Trevor R ; Toogood, Andrew A ; Kirk, Jeremy MW ; Plummer, Lacey ; Albrecht, Urs ; Crowley, William F ; Mohammadi, Moosa ; Tena‐Sempere, Manuel ; Prevot, Vincent ; Pitteloud, Nelly
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2017-10, Vol.9 (10), p.1379-1397
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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Author / Creator:Falardeau, John ; Chung, Wilson C.J. ; Beenken, Andrew ; Raivio, Taneli ; Plummer, Lacey ; Sidis, Yisrael ; Jacobson-Dickman, Elka E. ; Eliseenkova, Anna V. ; Ma, Jinghong ; Dwyer, Andrew ; Quinton, Richard ; Hall, Janet E. ; Huot, Celine ; Alois, Natalie ; Pearce, Simon H.S. ; Cole, Lindsay W. ; Hughes, Virginia ; Mohammadi, Moosa ; Tsai, Pei ; Pitteloud, Nelly
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2008-08, Vol.118 (8), p.2822-2831
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Reversal of Idiopathic Hypogonadotropic Hypogonadism
Author / Creator:Raivio, Taneli ; Falardeau, John ; Dwyer, Andrew ; Quinton, Richard ; Hayes, Frances J ; Hughes, Virginia A ; Cole, Lindsay W ; Pearce, Simon H ; Lee, Hang ; Boepple, Paul ; Crowley, William F ; Pitteloud, Nelly
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-08, Vol.357 (9), p.863-873
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Non-invasive assessment of coronary endothelial function in children and adolescents with type 1 diabetes mellitus using isometric handgrip exercise—MRI: A feasibility study
Author / Creator:Zwingli, Gaëtan ; Yerly, Jérôme ; Mivelaz, Yvan ; Stoppa-Vaucher, Sophie ; Dwyer, Andrew A. ; Pitteloud, Nelly ; Stuber, Matthias ; Hauschild, Michael
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-02, Vol.15 (2), p.e0228569-e0228569
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Multiomics unravels the complexity of male obesity: a prospective observational study
Author / Creator:Papadakis, Georgios E. ; Favre, Lucie ; Zouaghi, Yassine ; Vionnet, Nathalie ; Niederländer, Nicolas J. ; Adamo, Michela ; Acierno, James S. ; Berdous, Dassine ; Boizot, Alexia ; Meylan, Jenny ; Ivanisevic, Julijana ; Paccou, Emmanuelle ; Gallart-Ayala, Hector ; Reyns, Tim ; Van Caeneghem, Elise ; Lapauw, Bruno ; Pasquier, Jérôme ; Aleman, Yasser ; Mantziari, Styliani ; Salamin, Olivier ; Nicoli, Raul ; Kuuranne, Tiia ; Fiers, Tom ; Hagmann, Patric ; Santoni, Federico ; Messina, Andrea ; Pitteloud, Nelly
Publisher:England: BioMed Central Ltd
Journal title:Journal of translational medicine, 2025-01, Vol.23 (1), p.138-16, Article 138
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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
Author / Creator:Tommiska, Johanna ; Känsäkoski, Johanna ; Skibsbye, Lasse ; Vaaralahti, Kirsi ; Liu, Xiaonan ; Lodge, Emily J. ; Tang, Chuyi ; Yuan, Lei ; Fagerholm, Rainer ; Kanters, Jørgen K. ; Lahermo, Päivi ; Kaunisto, Mari ; Keski-Filppula, Riikka ; Vuoristo, Sanna ; Pulli, Kristiina ; Ebeling, Tapani ; Valanne, Leena ; Sankila, Eeva-Marja ; Kivirikko, Sirpa ; Lääperi, Mitja ; Casoni, Filippo ; Giacobini, Paolo ; Phan-Hug, Franziska ; Buki, Tal ; Tena-Sempere, Manuel ; Pitteloud, Nelly ; Veijola, Riitta ; Lipsanen-Nyman, Marita ; Kaunisto, Kari ; Mollard, Patrice ; Andoniadou, Cynthia L. ; Hirsch, Joel A. ; Varjosalo, Markku ; Jespersen, Thomas ; Raivio, Taneli
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-11, Vol.8 (1), p.1289-11, Article 1289
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GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
Author / Creator:Chan, Yee-Ming ; de Guillebon, Adelaide ; Lang-Muritano, Mariarosaria ; Plummer, Lacey ; Cerrato, Felecia ; Tsiaras, Sarah ; Gaspert, Ariana ; Lavoie, Hélène B ; Wu, Ching-Hui ; Crowley, William F. Jr ; Amory, John K ; Pitteloud, Nelly ; Seminara, Stephanie B
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (28), p.11703-11708
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Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism
Author / Creator:Pitteloud, Nelly ; Zhang, Chengkang ; Pignatelli, Duarte ; Li, Jia-Da ; Raivio, Taneli ; Cole, Lindsay W. ; Plummer, Lacey ; Jacobson-Dickman, Elka E. ; Mellon, Pamela L. ; Zhou, Qun-Yong ; Crowley, William F.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-10, Vol.104 (44), p.17447-17452
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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-11, Vol.22 (11), p.1759-1767
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Precision medicine in the era of artificial intelligence: implications in chronic disease management

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Clinical Management of Congenital Hypogonadotropic Hypogonadism

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Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

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Effects of empagliflozin on reproductive system in men without diabetes

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Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis

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Circulatory lipid signature in response to short-term testosterone gel treatment of healthy young females

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

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Thyrotropin-secreting pituitary adenomas: a systematic review and meta-analysis of postoperative outcomes and management

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Combined immune checkpoint inhibitor therapy with nivolumab and ipilimumab causing acute-onset type 1 diabetes mellitus following a single administration: two case reports

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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism

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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

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KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

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Reversal of Idiopathic Hypogonadotropic Hypogonadism

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Non-invasive assessment of coronary endothelial function in children and adolescents with type 1 diabetes mellitus using isometric handgrip exercise—MRI: A feasibility study

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Multiomics unravels the complexity of male obesity: a prospective observational study

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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

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GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

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Loss-of-Function Mutation in the Prokineticin 2 Gene Causes Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

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