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1دورية أكاديمية
المؤلفون: Rocio R.D. Coletta, Alexander A.L. Jorge, Catarina Brasil D'Alva, Emília M. Pinto, Ana Elisa C. Billerbeck, Paulo R. Pachi, Carlos A. Longui, Ricardo M. Garcia, Margaret Boguszewski, Ivo J.P. Arnhold, Berenice B. Mendonca, Elaine M.F. Costa
المصدر: Clinics, Vol 68, Iss 6, Pp 785-791 (2013)
مصطلحات موضوعية: IGF1 Gene, Small For Gestational Age, Serum IGF1 Levels, IGF1 Polymorphism, VNTR of the Insulin Gene, Growth, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Naiara C.B. Dantas, Mariana F.A. Funari, Gabriela A. Vasques, Nathalia L.M. Andrade, Raíssa C. Rezende, Vinicius Brito, Renata C. Scalco, Ivo J.P. Arnhold, Berenice B. Mendonca, Alexander A.L. Jorge
المصدر: Hormone Research in Paediatrics. 95:264-274
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2f725a4f22addf2ac734bc4e41a79381
https://doi.org/10.1159/000524374 -
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المؤلفون: Sonir Roberto Rauber Antonini, Berenice B. Mendonca, Renata C. Scalco, Sofia Helena Valente de Lemos-Marini, Alexander A. L. Jorge, Ester R. Silveira, Ivo J.P. Arnhold, Naiara C.B. Dantas, Gil Guerra-Júnior, Adriana F. Braz, Alexsandra C. Malaquias
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Untreated group, Turner Syndrome, Context (language use), Growth hormone, Gastroenterology, Endocrinology, Interquartile range, Internal medicine, Turner syndrome, medicine, Humans, In patient, Growth Disorders, Retrospective Studies, Human Growth Hormone, business.industry, HORMÔNIOS, medicine.disease, Body Height, Adult height, Treatment Outcome, Pediatrics, Perinatology and Child Health, Gh treatment, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c447aa8bcef76e544a9417a2e5804f20
https://doi.org/10.1159/000516869 -
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المؤلفون: Rafael Loch Batista, Valéria Aparecida Costa Hong, Ivo J.P. Arnhold, Luiz Aparecido Bortolotto, Isabela Peixoto Biscotto, Luciani R. Carvalho, Berenice B. Mendonca
المصدر: Pituitary. 24:216-228
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Pulse Wave Analysis, Growth hormone, Carotid Intima-Media Thickness, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Internal medicine, Humans, Medicine, In patient, Dwarfism, Pituitary, Pulse wave velocity, Triglyceride, Human Growth Hormone, Waist-Hip Ratio, business.industry, Cholesterol, Middle Aged, Cross-Sectional Studies, Intima-media thickness, chemistry, Female, Congenital Growth Hormone Deficiency, Gh replacement, business, 030217 neurology & neurosurgery
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المؤلفون: Marilena Nakaguma, Berenice B. Mendonca, Gabriela A Vasques, Luciana Pinto Brito, Alexander A. L. Jorge, Ivo J.P. Arnhold, Thais H. Inoue-Lima
المصدر: Hormone Research in Paediatrics. 93:197-205
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Bayesian probability, 030209 endocrinology & metabolism, Gastroenterology, Growth hormone deficiency, 03 medical and health sciences, Basal (phylogenetics), Insulin-like growth factor, 0302 clinical medicine, Endocrinology, Positive predicative value, Internal medicine, medicine, Humans, Insulin-Like Growth Factor I, Child, Growth Disorders, Retrospective Studies, 030219 obstetrics & reproductive medicine, Receiver operating characteristic, Human Growth Hormone, business.industry, Area under the curve, Infant, medicine.disease, Cross-Sectional Studies, Insulin-Like Growth Factor Binding Protein 3, Child, Preschool, Predictive value of tests, Pediatrics, Perinatology and Child Health, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab622ed4cf9325f085b7b8b133d6802b
https://doi.org/10.1159/000509840 -
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المؤلفون: Juliana Moreira Silva, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge, Luciani R. Carvalho, Nathalia Garcia Bianchi Pereira Ferreira, Ivo J.P. Arnhold, Qing Fang, Mariana Cotarelli Madi, Mirian Yumie Nishi, Berenice B. Mendonca, Marilena Nakaguma, Ayse Bilge Ozel, Luciana Ribeiro Montenegro, Lais Cavalca Cardoso, Mariana F A Funari, Sally A. Camper, Jun Li, Qianyi Ma
المصدر: Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1128, p 1128 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, 030209 endocrinology & metabolism, Hypopituitarism, Biology, QH426-470, Article, 03 medical and health sciences, 0302 clinical medicine, Holoprosencephaly, Anterior pituitary, medicine, Genetics, TGIF1, Missense mutation, Humans, Allele, Child, Genetics (clinical), Alleles, Homeodomain Proteins, GH1, Human Growth Hormone, SOXB1 Transcription Factors, Infant, Aplasia, medicine.disease, Penetrance, Magnetic Resonance Imaging, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Phenotype, allelic variants, hypopituitarism, Child, Preschool, Mutation, IGHD, SOX3, Female
وصف الملف: application/pdf
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المؤلفون: Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
المساهمون: University of Michigan [Ann Arbor], University of Michigan System, Universidade de São Paulo = University of São Paulo (USP), University Hospital Leipzig, Universidad de Buenos Aires [Buenos Aires] (UBA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], University of Luebeck, Hospital de Niños 'Ricardo Gutiérrez', Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Leipzig University, West Chester University of Pennsylvania (WCUPA), National Children's Hospital, National Institutes of Health (R01HD097096to SAC, R01GM129123 to JOK), the Japan Society for Promotion of Science (HB), Grant 2013/03236-5 from the São Paulo Research Foundation (FAPESP) (IJPA), a grant from Pfizer (RP), and the Argentinean National Agency of Scientific and Technical Promotion, PICT 2016-2913 and PICT 2017-0002 (MIPM), Universidade de São Paulo (USP), University of Leipzig Medical Center, Gall, Valérie
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genetمصطلحات موضوعية: Adult, Male, Gene isoform, growth hormone deficiency, PIT-1, variants of uncertain significance, Adolescent, RNA Splicing, [SDV]Life Sciences [q-bio], Repressor, 030209 endocrinology & metabolism, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Article, Growth hormone deficiency, 03 medical and health sciences, alternative splicing, 0302 clinical medicine, multiplexed assays of variant effects, Genetics, medicine, Humans, Missense mutation, splice, transcriptional regulation, Child, massively parallel splicing assay, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Alternative splicing, medicine.disease, High-Throughput Screening Assays, Pedigree, [SDV] Life Sciences [q-bio], Pituitary Hormones, hypopituitarism, Child, Preschool, Mutation, RNA splicing, Transcription Factor Pit-1, General Economics, Econometrics and Finance, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document -
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المؤلفون: Qianyi Ma, Sally A. Camper, Lais Cavalca Cardoso, Mirian Yumie Nishi, Alexander A. L. Jorge, Ivo J.P. Arnhold, Luciani R. Carvalho, Amanda de Moraes Narcizo, A. Blige Ozel, Berenice B. Mendonca, Qing Fang, Mariana Cotarelli Madi, Nathalia Garcia Bianchi Pereira Ferreira, Juliana Moreira Silva, Luciana Ribeiro Montenegro, Marilena Nakaguma, Mariana F A Funari, Anna Flavia Figueredo Benedetti, Jun Li
مصطلحات موضوعية: Genetics, allergology, medicine, Hypopituitarism, Allele, Biology, medicine.disease, Phenotype, Gene
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f641a78b3a2cdb23782768da47966b86
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المؤلفون: Luciani R. Carvalho, Mariana F A Funari, Fernanda A. Correa, Marilena Nakaguma, Lucas Santos de Santana, Ivo J.P. Arnhold, Antonio M. Lerario, Ricardo V Perez, Martha K.P. Huayllas, Berenice B. Mendonca, Mirta Miras, Anna Flavia Figueredo Benedetti, Alexander A. L. Jorge
المصدر: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connectionsمصطلحات موضوعية: growth hormone deficiency, Massive parallel sequencing, lcsh:RC648-665, business.industry, Genetic heterogeneity, target gene panel, Endocrinology, Diabetes and Metabolism, Genetic counseling, Research, massively parallel sequencing, Hypopituitarism, medicine.disease, Bioinformatics, mutations, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Growth hormone deficiency, Endocrinology, GLI2, Internal Medicine, medicine, Clinical significance, high-throughput nucleotide sequencing, business, Gene, congenital hypopituitarism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f369e7021748b915b027973a88fc6dad
https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0085.xml -
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المؤلفون: Marilena Nakaguma, Thais H. Inoue-Lima, Alexander A. L. Jorge, Renata C. Scalco, Ivo J.P. Arnhold, Berenice B. Mendonca, Gabriela A Vasques
المصدر: Journal of Pediatric Endocrinology and Metabolism. 32:173-179
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Growth hormone, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Predictive Value of Tests, 030225 pediatrics, Internal medicine, Humans, Medicine, Screening tool, Insulin-Like Growth Factor I, Child, Growth Disorders, Retrospective Studies, Receiver operating characteristic, Human Growth Hormone, business.industry, Puberty, Bone age, Chronological age, Predictive value, Cross-Sectional Studies, ROC Curve, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Biomarkers, GH Deficiency, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe3407c6024747199f24ba66bc794471
https://doi.org/10.1515/jpem-2018-0435