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HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Fang, Qing; Benedetti, Anna Flavia Figueredo; Ma, Qianyi; Gregory, Louise; Li, Jun Z; Dattani, Mehul; Sadeghi-Nejad, Abdollah; Arnhold, Ivo J P; Mendonca, Berenice Bilharinho; Camper, Sally A; Carvalho, Luciani R.
Afiliação
  • Fang Q; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Benedetti AF; Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.
  • Ma Q; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Gregory L; Developmental Endocrinology Research Group, Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London, Institute of Child Health, London, UK.
  • Li JZ; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Dattani M; Developmental Endocrinology Research Group, Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London, Institute of Child Health, London, UK.
  • Sadeghi-Nejad A; Division of Pediatric Endocrinology, Floating Hospital for Children at Tufts Medical Center, Tufts University School of Medicine, Boston, MA, USA.
  • Arnhold IJ; Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.
  • Mendonca BB; Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.
  • Camper SA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Carvalho LR; Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.
Clin Endocrinol (Oxf) ; 85(3): 408-14, 2016 09.
Article em En | MEDLINE | ID: mdl-27000987
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Hipopituitarismo / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans / Male / Newborn País como assunto: America do sul / Asia / Brasil Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Homeodomínio / Hipopituitarismo / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans / Male / Newborn País como assunto: America do sul / Asia / Brasil Idioma: En Ano de publicação: 2016 Tipo de documento: Article