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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani, Luca; Cools, Martine; Ioakim, Stamatina; Faisal Ahmed, S; Andonova, Silvia; Avbelj-Stefanija, Magdalena; Baronio, Federico; Bouligand, Jerome; Bruggenwirth, Hennie T; Davies, Justin H; De Baere, Elfride; Dzivite-Krisane, Iveta; Fernandez-Alvarez, Paula; Gheldof, Alexander; Giavoli, Claudia; Gravholt, Claus H; Hiort, Olaf; Holterhus, Paul-Martin; Juul, Anders; Krausz, Csilla; Lagerstedt-Robinson, Kristina; McGowan, Ruth; Neumann, Uta; Novelli, Antonio; Peyrassol, Xavier; Phylactou, Leonidas A; Rohayem, Julia; Touraine, Philippe; Westra, Dineke; Vezzoli, Valeria; Rossetti, Raffaella.
Affiliation
  • Persani L; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
  • Cools M; Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Ioakim S; Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
  • Faisal Ahmed S; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
  • Andonova S; Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom.
  • Avbelj-Stefanija M; National Genetic Laboratory, UHOG "Maichin dom", Medical University, Sofia, Bulgaria.
  • Baronio F; Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Bouligand J; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Bruggenwirth HT; Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France.
  • Davies JH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
  • De Baere E; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Dzivite-Krisane I; Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
  • Fernandez-Alvarez P; Children's University Hospital, Riga, Latvia.
  • Gheldof A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.
  • Giavoli C; Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Gravholt CH; Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy.
  • Hiort O; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
  • Holterhus PM; Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark.
  • Juul A; University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany.
  • Krausz C; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Lagerstedt-Robinson K; Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • McGowan R; Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
  • Neumann U; Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden.
  • Novelli A; Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom.
  • Peyrassol X; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom.
  • Phylactou LA; Charité Medicine University, Berlin, Germany.
  • Rohayem J; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Touraine P; Universitè Libre di Bruxelles, Brussels, Belgium.
  • Westra D; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Vezzoli V; University Hospital Münster, Munster, Germany.
  • Rossetti R; Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France.
Endocr Connect ; 11(12)2022 Dec 01.
Article in En | MEDLINE | ID: mdl-36228316

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Endocr Connect Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Endocr Connect Year: 2022 Document type: Article Affiliation country: Italia Country of publication: Reino Unido