Influence of Growth Hormone Receptor (GHR) Exon 3 Genotype on Clinical, Metabolic and Hormonal Profiles in Untreated Acromegalic Patients

Autor: RS Jallad, E Trarbach, T Chile, FHG Duarte, MD Bronstein, AAL Jorge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::418fec059a200d9d69f5e615f40c6746
https://doi.org/10.1210/endo-meetings.2010.part1.p5.p1-245

Three NovelGLI2Mutations (L788fsX794, L694fsX732 and E380X) Presenting as Variable Penetrance of Pituitary Hormone Deficiencies without Holoprosencephaly

Autor: M M Franca, AAL Jorge, LR Carvalho, GA Vasques, BB Mendonca, IJP Arnhold

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35d73618436277040aaa1169494248a5
https://doi.org/10.1210/endo-meetings.2010.part3.or2.or43-5

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Autor: Tolezano GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Bastos GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., da Costa SS; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Scliar MO; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., de Souza CFM; Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Van Der Linden H Jr; Rehabilitation Center Dr. Hennrique Sanntillo, Goiânia, GO, Brazil., Fernandes WLM; Department of Pediatrics, College of Medicine of Pouso Alegre, Pouso Alegre, MG, Brazil., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Haddad LA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Honjo RS; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Yamamoto GL; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Kim CA; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Jorge AAL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Bertola DR; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil. ana.krepischi@ib.usp.br.

Publikováno v: Molecular neurobiology [Mol Neurobiol] 2024 Aug; Vol. 61 (8), pp. 5230-5247. Date of Electronic Publication: 2024 Jan 05.

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Autor: Andrade NLM; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Rezende RC; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Crisostomo LG; Departamento de Pediatria, Faculdade de Medicina do Centro Universitário São Camilo, São Paulo, Brazil., Dantas NCB; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Cellin LP; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., de Souza V; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Quedas EPS; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Lerario AM; Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Vasques GA; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Jorge AAL; Unidade de Endocrinologia Genética (LIM 25), Hospital Das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM42), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2024 May 14, pp. 1-8. Date of Electronic Publication: 2024 May 14.

Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.

Autor: Chen SC; Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK.; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Bryce J; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Chen M; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Charmandari E; Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, Athens, Greece., Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Dou X; Beijing Children's Hospital, The Capital Medical University, National Center for Children's Health, Beijing, China., Gong C; Beijing Children's Hospital, The Capital Medical University, National Center for Children's Health, Beijing, China., Hamza R; Department of Pediatrics, Pediatric Endocrinology Unit, Ain Shams University, Cairo, Egypt., Harvey J; MAGIC Foundation, Warrenville, Illinois, USA., Hoffman AR; Department of Medicine, Division of Endocrinology, Metabolism and Gerontology, Stanford University School of Medicine, Palo Alto, California, USA., Horikawa R; Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan., Johannson G; Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Department of Endocrinology, Sahlgrenska University Hospital, Gothenburg, Sweden., Jorge AAL; Genetic-Endocrinology Unit, Endocrinology Division of Hospital das Clinicas of University of Sao Paulo School of Medicine, Sao Paulo, Brazil., Miller BS; University of Minnesota Medical School, MHealth Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA., Roehrich S; Novo Nordisk Health Care AG, Global Medical Affairs Rare Endocrine Disorders, Zurich, Switzerland., Sävendahl L; Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden., Tseretopoulou X; Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK.; Office for Rare Conditions, University of Glasgow, Glasgow, UK., Vitali D; SOD Italia, Rome, Italy., Wajnrajch M; Pfizer Biopharmaceuticals, Global Medical Affairs, Rare Disease, New York, New York, USA.; Division of Paediatric Endocrinology, New York University Langone Medical Center, New York, New York, USA., Ahmed SF; Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK.; Office for Rare Conditions, University of Glasgow, Glasgow, UK.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (4), pp. 365-373. Date of Electronic Publication: 2023 Sep 13.