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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina; Vial, Yoann; Pantaleoni, Francesca; Lepri, Francesca; Daniele, Paola; Burnyte, Birute; Cuturilo, Goran; Fauth, Christine; Gezdirici, Alper; Kotzot, Dieter; Güleç, Elif Yilmaz; Iotova, Violeta; Schanze, Denny; Ramond, Francis; Havlovicová, Markéta; Utine, Gulen Eda; Simsek-Kiper, Pelin Ozlem; Stoyanova, Milena; Verloes, Alain; De Luca, Alessandro; Tartaglia, Marco; Cavé, Hélène; Zenker, Martin.
Afiliação
  • Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Lissewski C; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Pinna V; Medical Genetics Section, IRCCS Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Vial Y; Department of Genetics, Hopital Robert Debré, Assistance Publique des Hopitaux de Paris (AP-HP), Paris, France.
  • Pantaleoni F; Inserm U1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
  • Lepri F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Daniele P; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Burnyte B; Medical Genetics Section, IRCCS Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Cuturilo G; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Fauth C; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Gezdirici A; University Children's Hospital, Belgrade, Serbia.
  • Kotzot D; Division of Human Genetics, Medizinische Universität Innsbruck, Innsbruck, Austria.
  • Güleç EY; Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Section of Medical Genetics, Istanbul, Turkey.
  • Iotova V; Division of Human Genetics, Medizinische Universität Innsbruck, Innsbruck, Austria.
  • Schanze D; Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Section of Medical Genetics, Istanbul, Turkey.
  • Ramond F; Department of Pediatrics, Medical University of Varna, Varna, Bulgaria.
  • Havlovicová M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Utine GE; Department of Genetics, Hôpital Nord, Saint Etienne University Hospital, Lyon, France.
  • Simsek-Kiper PO; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Stoyanova M; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • Verloes A; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • De Luca A; Department of Medical Genetics, Varna Medical University, Varna, Bulgaria.
  • Tartaglia M; Department of Genetics, Hopital Robert Debré, Assistance Publique des Hopitaux de Paris (AP-HP), Paris, France.
  • Cavé H; Medical Genetics Section, IRCCS Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Zenker M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Eur J Hum Genet ; 29(3): 524-527, 2021 03.
Article em En | MEDLINE | ID: mdl-33082526
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Alfa-Macroglobulinas / Mutação / Síndrome de Noonan Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Alfa-Macroglobulinas / Mutação / Síndrome de Noonan Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article