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Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin, Giampaolo; Daly, Adrian F; Hernández-Ramírez, Laura C; Araldi, Elisa; Tatsi, Christina; Dale, Ryan K; Fridell, Gus; Mittal, Arjun; Faucz, Fabio R; Iben, James R; Li, Tianwei; Vitali, Eleonora; Stojilkovic, Stanko S; Kamenicky, Peter; Villa, Chiara; Baussart, Bertrand; Chittiboina, Prashant; Toro, Camilo; Gahl, William A; Eugster, Erica A; Naves, Luciana A; Jaffrain-Rea, Marie-Lise; de Herder, Wouter W; Neggers, Sebastian Jcmm; Petrossians, Patrick; Beckers, Albert; Lania, Andrea G; Mains, Richard E; Eipper, Betty A; Stratakis, Constantine A.
Afiliación
  • Trivellin G; Department of Biomedical Sciences, Humanitas University, Milan, Italy.
  • Daly AF; IRCCS Humanitas Research Hospital, Milan, Italy.
  • Hernández-Ramírez LC; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, Liège, Belgium.
  • Araldi E; Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
  • Tatsi C; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Dale RK; Energy Metabolism Laboratory, Department of Health Sciences and Technology, Institute of Translational Medicine, Swiss Federal Institute of Technology (ETH) Zurich, Schwerzenbach, Switzerland.
  • Fridell G; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Mittal A; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Faucz FR; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Iben JR; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Li T; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Vitali E; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Stojilkovic SS; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Kamenicky P; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Villa C; IRCCS Humanitas Research Hospital, Milan, Italy.
  • Baussart B; Section on Cellular Signaling, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Chittiboina P; Université Paris-Saclay, Institut national de la santé et de la recherche médicale (INSERM), Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France.
  • Toro C; Département de Neuropathologie de la Pitié Salpêtrière, Hôpital de la Pitié-Salpêtrière - Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Paris, France.
  • Gahl WA; Institut national de la santé et de la recherche médicale (INSERM) U1016, Centre national de la recherche scientifique Unité Mixte de Recherche (CNRS UMR) 8104, Institut Cochin, Paris, France.
  • Eugster EA; Institut national de la santé et de la recherche médicale (INSERM) U1016, Centre national de la recherche scientifique Unité Mixte de Recherche (CNRS UMR) 8104, Institut Cochin, Paris, France.
  • Naves LA; Service de Neurochirurgie, Hôpital Pitié-Salpêtrière, AP-HP Sorbonne, Paris, France.
  • Jaffrain-Rea ML; Neurosurgery Unit for Pituitary and Inheritable Diseases and Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, United States.
  • de Herder WW; National Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Neggers SJ; National Institutes of Health (NIH) Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, United States.
  • Petrossians P; Division of Endocrinology and Diabetes, Department of Pediatrics, Riley Hospital for Children at Indiana University (IU) Health, Indiana University School of Medicine, Indianapolis, IN, United States.
  • Beckers A; Service of Endocrinology, University Hospital, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.
  • Lania AG; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
  • Mains RE; Neuromed Institute, Istituto di Ricovero e Cura a Carattere Scientifico, Pozzilli, Italy.
  • Eipper BA; Department of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, Rotterdam, Netherlands.
  • Stratakis CA; Department of Medicine, Section Endocrinology, Pituitary Center Rotterdam, Erasmus University Medical Center, Rotterdam, Netherlands.
Front Endocrinol (Lausanne) ; 14: 1166076, 2023.
Article en En | MEDLINE | ID: mdl-37388215
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades de la Hipófisis / Neoplasias Hipofisarias Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2023 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades de la Hipófisis / Neoplasias Hipofisarias Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2023 Tipo del documento: Article