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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene, Giedre; Nevalainen, Pasi I; Reyes, Monica; Thiele, Susanne; Tafaj, Olta; Molinaro, Angelo; Takatani, Rieko; Ala-Houhala, Marja; Nilsson, Daniel; Eisfeldt, Jesper; Lindstrand, Anna; Kottler, Marie-Laure; Mäkitie, Outi; Jüppner, Harald.
Afiliação
  • Grigelioniene G; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Nevalainen PI; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Reyes M; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden.
  • Thiele S; Endocrine Unit, Department of Internal Medicine, Tampere University Hospital, Tampere, Finland.
  • Tafaj O; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Molinaro A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Takatani R; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Ala-Houhala M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Nilsson D; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Eisfeldt J; Department of Pediatrics, Tampere University Hospital, Tampere, Finland.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Kottler ML; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Stockholm, Sweden.
  • Mäkitie O; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
  • Jüppner H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
J Bone Miner Res ; 32(4): 776-783, 2017 04.
Article em En | MEDLINE | ID: mdl-28084650
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Éxons / Cromograninas / Subunidades alfa Gs de Proteínas de Ligação ao GTP / Transtornos Cromossômicos / Genes Dominantes / Heterozigoto / Inversão Cromossômica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Éxons / Cromograninas / Subunidades alfa Gs de Proteínas de Ligação ao GTP / Transtornos Cromossômicos / Genes Dominantes / Heterozigoto / Inversão Cromossômica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos