Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Vance, Mary L."'
Autor:
Giustina, Andrea, Barkhoudarian, Garni, Beckers, Albert, Ben-Shlomo, Anat, Biermasz, Nienke, Biller, Beverly, Boguszewski, Cesar, Bolanowski, Marek, Bollerslev, Jens, Bonert, Vivien, Bronstein, Marcello D., Buchfelder, Michael, Casanueva, Felipe F., Chanson, Philippe, Clemmons, David, Fleseriu, Maria, Formenti, Anna Maria, Freda, Pamela, Gadelha, Monica, Geer, Eliza, Gurnell, Mark, Heaney, Anthony P., Ho, Ken K. Y., Ioachimescu, Adriana G., Lamberts, Steven, Laws, Edward, Losa, Marco, Maffei, Pietro, Mamelak, Adam, Mercado, Moises, Molitch, Mark, Mortini, Pietro, Pereira, Alberto M., Petersenn, Stephan, Post, Kalmon, Puig-Domingo, Manuel, Salvatori, Roberto, Samson, Susan L., Shimon, Ilan, Strasburger, Christian J., Swearingen, Brooke, Trainer, Peter J., Vance, Mary L., Wass, John A.H., Wierman, Margaret E., Yuen, Kevin C. J., Zatelli, Maria Chiara, Melmed, Shlomo
Publikováno v:
Giustina, Andrea Barkhoudarian, Garni Beckers, Albert Ben-Shlomo, Anat Biermasz, Nienke Biller, Beverly Boguszewski, Cesar Bolanowski, Marek Bollerslev, Jens Bonert, Vivien Bronstein, Marcello D. Buchfelder, Michael Casanueva, Felipe F. Chanson, Philippe Clemmons, David Fleseriu, Maria Formenti, Anna Maria Freda, Pamela Gadelha, Monica Geer, Eliza G
Reviews in endocrine and metabolic disorders (Print)
Reviews in endocrine and metabolic disorders (Print)
Autor:
Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publikováno v:
Iacovazzo, D, Caswell, R, Bunce, B, Jose, S, Yuan, B, Hernández-Ramírez, LC, Kapur, S, Caimari, F, Evanson, J, Ferraù, F, Dang, MN, Gabrovska, P, Larkin, SJ, Ansorge, O, Rodd, C, Vance, ML, Ramírez-Renteria, C, Mercado, M, Goldstone, AP, Buchfelder, M, Burren, CP, Gurlek, A, Dutta, P, Choong, CS, Cheetham, T, Trivellin, G, Stratakis, CA, Lopes, MB, Grossman, AB, Trouillas, J, Lupski, JR, Ellard, S, Sampson, JR, Roncaroli, F & Korbonits, M 2016, ' Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study ', Acta Neuropathologica Communications, vol. 4, 56, pp. 0 . https://doi.org/10.1186/s40478-016-0328-1
Acta Neuropathologica Communications
Acta Neuropathologica Communications
Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d28e24b4af2b31330d13702937087b75
http://hdl.handle.net/11655/15084
http://hdl.handle.net/11655/15084
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Publikováno v:
Neurosurgery; Aug2004, Vol. 55 Issue 2, p484-485, 2p
Autor:
Giustina A; Institute of Endocrine and Metabolic Sciences, San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital, Ospedale San Raffaele, Via Olgettina, 58, 20132, Milan, Italy. giustina.andrea@hsr.it., Barkhoudarian G; Pacific Pituitary Disorders Center, Pacific Neuroscience Institute, Santa Monica, CA, USA., Beckers A; Department of Endocrinology, University of Liège, Liège, Belgium., Ben-Shlomo A; Pituitary Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Biermasz N; Division of Endocrinology and Center for Endocrine Tumors, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands., Biller B; Neuroendocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Boguszewski C; SEMPR, Endocrine Division, Department of Internal Medicine, Federal University of Parana, Curitiba, Brazil., Bolanowski M; Department of Endocrinology, Diabetes and Isotope Therapy, Wroclaw Medical University, Wroclaw, Poland., Bollerslev J; Section of Specialized Endocrinology, Department of Endocrinology, University of Oslo, Oslo, Norway., Bonert V; Pituitary Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Bronstein MD; Neuroendocrine Unit, Division of Endocrinology and Metabolism, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil., Buchfelder M; Department of Neurosurgery, University Hospital Erlangen, Erlangen, Germany., Casanueva F; Division of Endocrinology, Santiago de Compostela University and Ciber OBN, Santiago de Compostela, Spain., Chanson P; Centre de Référence des Maladies Rares de l'Hypophyse and Université Paris-Saclay, Univ. Paris-Sud, Inserm, Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin-Bicêtre, Paris, France., Clemmons D; Department of Medicine, University of North Carolina, Chapel Hill, NC, USA., Fleseriu M; Departments of Medicine and Neurological Surgery, Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA., Formenti AM; Institute of Endocrine and Metabolic Sciences, San Raffaele Vita-Salute University, IRCCS San Raffaele Hospital, Ospedale San Raffaele, Via Olgettina, 58, 20132, Milan, Italy., Freda P; Department of Medicine, Columbia University, Vagelos College of Physicians and Surgeons, New York, NY, USA., Gadelha M; Neuroendocrinology Research Center/Endocrinology Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Geer E; Multidisciplinary Pituitary and Skull Base Tumor Center, Memorial Sloan-Kettering Cancer Center, New York, NY, USA., Gurnell M; Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, UK., Heaney AP; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Ho KKY; The Garvan Institute of Medical Research, St. Vincent's Hospital, University of New South Wales, Sydney, Australia., Ioachimescu AG; Department of Neurosurgery and Medicine, Division of Endocrinology, Metabolism and Lipids, Department of Neurosurgery, Emory University School of Medicine, Atlanta, GA, USA., Lamberts S; Erasmus Medical Center, Rotterdam, The Netherlands., Laws E; Pituitary/Neuroendocrine Center, Brigham & Women's Hospital, Boston, MA, USA., Losa M; Department of Neurosurgery, San Raffaele University Health Institute Milan, Milan, Italy., Maffei P; Department of Medicine, Padua University Hospital, Padua, Italy., Mamelak A; Pituitary Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Mercado M; Medical Research Unit in Endcrine Diseases, Hospital de Especialidades, Centro Médico Nacional, Siglo XXI, IMSS, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico., Molitch M; Division of Endocrinology, Metabolism & Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Mortini P; Department of Neurosurgery, San Raffaele University Health Institute Milan, Milan, Italy., Pereira AM; Division of Endocrinology and Center for Endocrine Tumors, Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands., Petersenn S; ENDOC Center for Endocrine Tumors, Hamburg, Germany., Post K; Department of Neurosurgery, Medicine, Mount Sinai Health System, New York, NY, USA., Puig-Domingo M; Germans Trias i Pujol Research Institute, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain., Salvatori R; Division of Endocrinology, Diabetes, and Metabolism and Pituitary Center, Johns Hopkins School of Medicine, Baltimore, MD, USA., Samson SL; Departments of Medicine and Neurosurgery, Baylor St. Luke's Pituitary Center, Baylor College of Medicine, Houson, TX, USA., Shimon I; Endocrine Institute, Rabin Medical Center, Beilinson Hospital, Petah-Tikva, Israel., Strasburger C; Department of Medicine for Endocrinology, Diabetes and Nutritional Medicine, Charité Universitätsmedizin, Berlin, Germany., Swearingen B; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA., Trainer P; Department of Endocrinology, The Christie NHS Foundation Trust, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Vance ML; Department of Medicine, University of Virginia, Charlottesville, VA, USA., Wass J; Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK., Wierman ME; Pituitary, Adrenal and Neuroendocrine Tumor Program, Department of Medicine, University of Colorado Anschutz Medical Center, Aurora, CO, USA., Yuen KCJ; Barrow Pituitary Center and Neuroendocrinology Clinic, Barrow Neurological Institute, University of Arizona College of Medicine, Creighton School of Medicine, Phoenix, AZ, USA., Zatelli MC; Section of Endocrinology & Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Melmed S; Pituitary Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Publikováno v:
Reviews in endocrine & metabolic disorders [Rev Endocr Metab Disord] 2020 Dec; Vol. 21 (4), pp. 667-678. Date of Electronic Publication: 2020 Sep 10.
Autor:
Iacovazzo D; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Bunce B; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Jose S; Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Hernández-Ramírez LC; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Kapur S; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Caimari F; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Evanson J; Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE, UK., Ferraù F; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Dang MN; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Gabrovska P; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK., Larkin SJ; Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK., Ansorge O; Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK., Rodd C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2, Canada., Vance ML; Department of Endocrinology, University of Virginia, Charlottesville, 22908, USA., Ramírez-Renteria C; Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico., Mercado M; Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico., Goldstone AP; Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London, UK., Buchfelder M; Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141, Germany., Burren CP; Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK., Gurlek A; Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey., Dutta P; Department of Endocrinology, PGIMER, Chandigarh, 160012, India., Choong CS; Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008, Australia., Cheetham T; Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP, UK., Trivellin G; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA., Lopes MB; Department of Pathology, University of Virginia, Charlottesville, 22908, USA., Grossman AB; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD, UK., Trouillas J; Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine Houston, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine Houston, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK., Sampson JR; Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK., Roncaroli F; Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, M13 9PL, UK., Korbonits M; Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK. m.korbonits@qmul.ac.uk.
Publikováno v:
Acta neuropathologica communications [Acta Neuropathol Commun] 2016 Jun 01; Vol. 4 (1), pp. 56. Date of Electronic Publication: 2016 Jun 01.
Autor:
Ellegala DB; Department of Neurological Surgery, University of Virginia Health Sciences Center, Charlottesville, Virginia 22908, USA., Alden TD, Couture DE, Vance ML, Maartens NF, Laws ER Jr
Publikováno v:
Journal of neurosurgery [J Neurosurg] 2003 May; Vol. 98 (5), pp. 974-7.