Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.

Cottrell, Emily; Cabrera, Claudia P; Ishida, Miho; Chatterjee, Sumana; Greening, James; Wright, Neil; Bossowski, Artur; Dunkel, Leo; Deeb, Asma; Basiri, Iman Al; Rose, Stephen J; Mason, Avril; Bint, Susan; Ahn, Joo Wook; Hwa, Vivian; Metherell, Louise A; Moore, Gudrun E; Storr, Helen L

Cottrell, Emily; Cabrera, Claudia P; Ishida, Miho; Chatterjee, Sumana; Greening, James; Wright, Neil; Bossowski, Artur; Dunkel, Leo; Deeb, Asma; Basiri, Iman Al; Rose, Stephen J; Mason, Avril; Bint, Susan; Ahn, Joo Wook; Hwa, Vivian; Metherell, Louise A; Moore, Gudrun E; Storr, Helen L.

Afiliação

Cottrell E; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK.
Cabrera CP; Centre for Translational Bioinformatics, Queen Mary University of London, London, UK.
Ishida M; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Chatterjee S; University College London, Great Ormond Street Institute of Child Health, London, UK.
Greening J; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK.
Wright N; University Hospitals of Leicester NHS Trust, Leicester, UK.
Bossowski A; The University of Sheffield Faculty of Medicine, Dentistry and Health, Sheffield, UK.
Dunkel L; Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University of Bialystok, Bialystok, Poland.
Deeb A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK.
Basiri IA; Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, United Arab Emirates.
Rose SJ; Mubarak Al-kabeer Hospital, Jabriya, Kuwait.
Mason A; University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Bint S; Royal Hospital for Children, Glasgow, UK.
Ahn JW; Viapath, Guy's Hospital, London, UK.
Hwa V; Addenbrookes Hospital, Cambridge, UK.
Metherell LA; Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Moore GE; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, London, UK.
Storr HL; University College London, Great Ormond Street Institute of Child Health, London, UK.

Eur J Endocrinol ; 183(6): 581-595, 2020 Dec.

Article em En | MEDLINE | ID: mdl-33055295

Assuntos

Variações do Número de Cópias de DNA/genética; Testes Genéticos/métodos; Hormônio do Crescimento Humano/genética; Fator de Crescimento Insulin-Like I/genética; Adolescente; Criança; Pré-Escolar; Estudos de Coortes; Feminino; Hormônio do Crescimento Humano/sangue; Humanos; Lactente; Fator de Crescimento Insulin-Like I/metabolismo; Masculino

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Crescimento Insulin-Like I / Testes Genéticos / Hormônio do Crescimento Humano / Variações do Número de Cópias de DNA Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido

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