Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis, Daniela; Carvalho, Daniel; Barbaro-Dieber, Tina; Espay, Alberto J; Gambello, Michael J; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M; Hove, Hanne B; Jansen, Sandra; Jira, Petr E; Lachlan, Katherine; Menke, Leonie A; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renata; Ramsey, Keri; Rossi, Alessandro; Sandoval, Renata Lazari; Stumpel, Constance; Stuurman, Kyra E; Cordeddu, Viviana; Turnpenny, Peter; Strisciuglio, Pietro; Tartaglia, Marco; Unger, Sheela; Waters, Todd; Turnbull, Clare; Hennekam, Raoul C

Melis, Daniela; Carvalho, Daniel; Barbaro-Dieber, Tina; Espay, Alberto J; Gambello, Michael J; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M; Hove, Hanne B; Jansen, Sandra; Jira, Petr E; Lachlan, Katherine; Menke, Leonie A; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renata; Ramsey, Keri; Rossi, Alessandro; Sandoval, Renata Lazari; Stumpel, Constance; Stuurman, Kyra E; Cordeddu, Viviana; Turnpenny, Peter; Strisciuglio, Pietro; Tartaglia, Marco; Unger, Sheela; Waters, Todd; Turnbull, Clare; Hennekam, Raoul C.

Afiliação

Melis D; Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Salerno, Italy.
Carvalho D; Department of Translational Medical Science, Federico II University, Naples, Italy.
Barbaro-Dieber T; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Espay AJ; Cooks Children's Genetics, Fort Worth, Texas, USA.
Gambello MJ; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
Gener B; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Gerkes E; Department of Genetics, BioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces, Bizkaia, Spain.
Hitzert MM; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands.
Hove HB; Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands.
Jansen S; Department of Pediatrics, Division of Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Jira PE; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
Lachlan K; Department of Pediatrics, Jeroen Bosch Hospital, 's-Hertogenbosch, The Netherlands.
Menke LA; Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
Narayanan V; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.
Ortiz D; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA.
Overwater E; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pensylvania, USA.
Posmyk R; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Ramsey K; Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.
Rossi A; Translational Genomic Research Institute, Center for Rare Childhood Disorders, Phoenix, Arizona, USA.
Sandoval RL; Department of Translational Medical Science, Federico II University, Naples, Italy.
Stumpel C; Department of Translational Medical Science, Federico II University, Naples, Italy.
Stuurman KE; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.
Cordeddu V; Department of Clinical Genetics Erasmus Medical Center, Rotterdam, The Netherlands.
Turnpenny P; Department of Hematology, Oncology and Molecular Medicine, National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy.
Strisciuglio P; Clinical Genetics Department, Royal Devon & Exeter Healthcare NHS, Exeter, UK.
Tartaglia M; Department of Translational Medical Science, Federico II University, Naples, Italy.
Unger S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Waters T; Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland.
Turnbull C; North Florida Regional Medical Center, Gainesville, Florida, USA.
Hennekam RC; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.

Clin Genet ; 97(6): 890-901, 2020 06.

Article em En | MEDLINE | ID: mdl-32266967

Assuntos

Anormalidades Múltiplas/genética; Calcinose/genética; Otopatias/genética; Predisposição Genética para Doença; Deficiência Intelectual/genética; Megalencefalia/genética; Atrofia Muscular/genética; Proteínas do Tecido Nervoso/genética; Fatores de Transcrição/genética; 3-Hidroxiacil-CoA Desidrogenases/genética; Anormalidades Múltiplas/patologia; Acetil-CoA C-Aciltransferase/genética; Adolescente; Adulto; Calcinose/patologia; Isomerases de Ligação Dupla Carbono-Carbono/genética; Criança; Pré-Escolar; Otopatias/patologia; Enoil-CoA Hidratase/genética; Face/anormalidades; Feminino; Estudos de Associação Genética; Heterozigoto; Humanos; Lactente; Deficiência Intelectual/patologia; Masculino; Megalencefalia/patologia; Pessoa de Meia-Idade; Mitocôndrias/genética; Mitocôndrias/patologia; Atrofia Muscular/patologia; Mutação; Mutação de Sentido Incorreto/genética; Fenótipo; Racemases e Epimerases/genética; Neoplasias Testiculares; Adulto Jovem

Palavras-chave

ZBTB20; Primrose syndrome; alpha-fetoprotein; ectopic calcifications; overgrowth

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Calcinose / Atrofia Muscular / Predisposição Genética para Doença / Otopatias / Megalencefalia / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália

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