Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Santen GW"'
Publikováno v:
AIDS. 3:571-576
We interviewed a group of 145 injecting drug users (IDUs) in Amsterdam about their drug use, participation in a needle-exchange programme and needle sharing. Approximately 1 year later 60 IDUs were followed up. IDUs who exchange regularly ('exchanger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137d3859c0cd98dad80e6dcee6e24e60
https://doi.org/10.1097/00002030-198909000-00003
https://doi.org/10.1097/00002030-198909000-00003
Autor:
Evelyne Jacqz-Aigrain, Dick Tibboel, Hannah Green, John N. van den Anker, Oscar Della Pasqua, Massimo Cella, Ron H.N. van Schaik, Achille Iolascon, Elke H. J. Krekels, Gijs W. E. Santen, Paola Baiardi, Catherijne A. J. Knibbe, Diana M. Gibb, Katharine Cheng
The area of pharmacogenetics (PGt) is evolving rapidly. However, ongoing efforts in this field are not aligned with the requirements for the inclusion of clinically relevant findings into the label, especially with reference to paediatric indications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef49ef4f842478dd7fcd36afe497d9a
http://hdl.handle.net/11588/474401
http://hdl.handle.net/11588/474401
Autor:
Elhaji Y; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., van Henten TMA; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Nightingale M; Genomics Core facility, Dalhousie University, Halifax, Nova Scotia, Canada., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vos LE; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands., Hull PR; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Publikováno v:
JID innovations : skin science from molecules to population health [JID Innov] 2021 May 06; Vol. 1 (3), pp. 100022. Date of Electronic Publication: 2021 May 06 (Print Publication: 2021).
Autor:
Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Postma AV; Department of Clinical Genetics, and.; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Salazar CM; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA., De Laughter DM; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Tjong F; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Piherová L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA., Zimmerman D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Ilgun A; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Gunst Q; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Hababa M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Škorić-Milosavljević D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Tomek V; Children's Heart Centre, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, Czech Republic., de Knijff P; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands., de Leeuw R; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands., Robinson JY; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Burn SC; Department of Obstetrics, Gynecology and Women's Health., Mustafa H; Department of Obstetrics, Gynecology and Women's Health., Ambrose M; Department of Pediatrics, Division of Pediatric Cardiology, and., Moss T; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Jacober J; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA., Niyazov DM; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA., Wolf B; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Kim KH; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Cherny S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Rousounides A; Makarios Medical Centre, Nicosia, Cyprus., Aristidou-Kallika A; Ultrasound and Fetal Medicine Diagnostic Centre, Nicosia, Cyprus., Tanteles G; Cyprus School of Molecular Medicine, Nicosia, Cyprus.; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ange-Line B; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France., Denommé-Pichon AS; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France., Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France., Ortiz D; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Haak MC; Department of Obstetrics and., Ten Harkel AD; Department of Pediatric Cardiology, Leiden University Medical Centre, Leiden, Netherlands., Manten GT; Department of Obstetrics and., Dutman AC; Department of Pathology, Isala Women and Children's Hospital, Zwolle, Netherlands., Bouman K; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands., Magliozzi M; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Radio FC; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Santen GW; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Herkert JC; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands., Brown HA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., van den Hoff MJ; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Mulder B; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Barnett JV; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Frohman MA; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA., Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2021 Mar 01; Vol. 131 (5).
Autor:
Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy., Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia., Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt., Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy., Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy., Baldi M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark., Bigoni S; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy., Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Breckpot J; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cocchi G; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy., Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia., De Brasi D; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy., Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Dinulos MB; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA., Hjortshøj TD; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy., Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy., Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy., Grasso M; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy., Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark., Iodice A; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia., Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Lacombe D; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy., Luchetti A; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy., Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey., Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy., Montorsi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy., Moutton S; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark., Obersztyn E; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy., Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Pisanti MA; Medical Genetic Unit, AORN Cardarelli, Naples, Italy., Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia., Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain., Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Ricci E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Rivieri F; Genetics Unit, St. Chiara Hospital, Trento, Italy., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy., Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy., Schanze I; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Selicorni A; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy., Silengo M; Department of Pediatrics, University of Torino, Torino, Italy., Smigiel R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy., Sorge G; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy., Szczaluba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Tarani L; Department of Pediatrics, University 'La Sapienza,', Rome, Italy., Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Toutain A; Department of Genetics, Tours University Hospital, Tours, France., Trimouille A; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Vergano SS; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Zanotta N; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Zenker M; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Conidi A; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands., Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Sep; Vol. 20 (9), pp. 965-975. Date of Electronic Publication: 2018 Jan 04.
Autor:
Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Waanders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., van Bladel DAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Kamping EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Mordaunt D; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., McGregor L; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., Thompson E; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., Kattamis A; First Department of Pediatrics, Athens University Medical School, Athens, Greece., Pastorczak A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Ilencikova D; 2nd Pediatric Department, Children's University Hospital, Comenius University, Bratislava, Slovakia., van Silfhout AV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Bont ES; Department of Pediatric Oncology and Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands., Loeffen J; Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, the Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kuiper RP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Jongmans MC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Marjolijn.Jongmans@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Publikováno v:
Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2018 Apr 01; Vol. 24 (7), pp. 1594-1603. Date of Electronic Publication: 2018 Jan 19.
Autor:
de Graaf M; Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands., Kant SG; Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands., Wit JM; Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands., Willem Redeker EJ; Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands., Eduard Santen GW; Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands., Henriëtta Verkerk AJM; Erasmus Medical Center, Department of Internal Medicine, Rotterdam, The Netherlands., Uitterlinden AG; Erasmus Medical Center, Department of Internal Medicine, Rotterdam, The Netherlands., Losekoot M; Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands., Oostdijk W; Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands.
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2017 Dec 15; Vol. 9 (4), pp. 366-370. Date of Electronic Publication: 2017 Jun 07.
Autor:
Celen C; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Chuang JC; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Luo X; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, United States., Nijem N; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States., Walker AK; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States., Chen F; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States., Zhang S; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Chung AS; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Nguyen LH; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Nassour I; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Budhipramono A; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Sun X; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands., McEntagart M; Medical Genetics, St George's University Hospitals, NHS Foundation Trust, United Kingdom Caroline Brain, Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom., Gevers EF; William Harvey Research Institute, Barts and the London, Queen Mary University of London, London, United Kingdom., Birnbaum SG; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States., Eisch AJ; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, and Mahoney Institute of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, United States., Powell CM; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States., Ge WP; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States., Santen GW; Department of Clinical genetics, Leiden University Medical Center, Leiden, The Netherlands., Chahrour M; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States., Zhu H; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.
Publikováno v:
ELife [Elife] 2017 Jul 11; Vol. 6. Date of Electronic Publication: 2017 Jul 11.
Autor:
Fountain MD; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Cho MT; GeneDX, Gaithersburg, Maryland, USA., Juusola J; GeneDX, Gaithersburg, Maryland, USA., Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ray JW; Division of Medical Genetics, University of Texas Medical Branch, Galveston, Texas, USA.; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Mancias P; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Northrup H; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Kukolich MK; Genetic Services, Cook Children's Health Care System, Fort Worth, Texas, USA., Weiss MM; Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Levesque S; Département de pédiatrie, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada., Meeks N; Children's Hospital Colorado, Aurora, Colorado, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lemke D; Children's Hospital Colorado, Aurora, Colorado, USA., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Lewis SK; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Race S; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Stewart LL; Department of Pediatrics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Hay B; Division of Genetics, UMass Memorial Children's Medical Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Guerreiro RL; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK., Bras JT; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK., Martins MP; Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade Hospital de Vila Real, Vila Real, Portugal., Derksen-Lubsen G; Department of Pediatrics, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands., Peeters E; Department of Child Neurology, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands., Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Schaaf CP; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Jan; Vol. 19 (1), pp. 45-52. Date of Electronic Publication: 2016 May 19.
Autor:
Heinen CA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Losekoot M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Sun Y; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Watson PJ; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Fairall L; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Joustra SD; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Zwaveling-Soonawala N; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Oostdijk W; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., van den Akker EL; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Alders M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Santen GW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., van Rijn RR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Dreschler WA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Surovtseva OV; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Biermasz NR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Hennekam RC; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Wit JM; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Schwabe JW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Boelen A; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., Fliers E; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands., van Trotsenburg AS; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2016 Dec; Vol. 101 (12), pp. 4564-4573. Date of Electronic Publication: 2016 Sep 07.