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1دورية أكاديمية
المؤلفون: Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça
المصدر: Archives of Endocrinology and Metabolism, Vol 63, Iss 2, Pp 167-174 (2019)
مصطلحات موضوعية: PROP1, combined pituitary hormone deficiency, growth hormone deficiency, short stature, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold
المصدر: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
مصطلحات موضوعية: congenital hypopituitarism, growth hormone deficiency, mutations, massively parallel sequencing, high-throughput nucleotide sequencing, target gene panel, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Marilena Nakaguma, Nathalia Garcia Bianchi Pereira Ferreira, Anna Flavia Figueredo Benedetti, Mariana Cotarelli Madi, Juliana Moreira Silva, Jun Z. Li, Qianyi Ma, Ayse Bilge Ozel, Qing Fang, Amanda de Moraes Narcizo, Laís Cavalca Cardoso, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Ivo Jorge Prado Arnhold, Alexander Augusto de Lima Jorge, Berenice Bilharinho de Mendonca, Sally Ann Camper, Luciani R. Carvalho
المصدر: Genes, Vol 12, Iss 8, p 1128 (2021)
مصطلحات موضوعية: GH1, SOX3, TGIF1, hypopituitarism, allelic variants, Genetics, QH426-470
وصف الملف: electronic resource
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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 -
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المؤلفون: Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo
مصطلحات موضوعية: Genetics, Gene isoform, RNA splicing, medicine, Repressor, Missense mutation, splice, Hypopituitarism, Biology, medicine.disease, Gene, Loss function
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631
https://doi.org/10.1101/2021.02.04.21249469