Zobrazeno 1 - 10 of 155 pro vyhledávání: '"Ivo J.P. Arnhold"'
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Akademický článek
Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age
Autor: 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
Publikováno v: Clinics, Vol 68, Iss 6, Pp 785-791 (2013)
OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correla
Externí odkaz: https://doaj.org/article/ea78ebc3ae4b4e418ab2a38eddb5229a
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2
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
Autor: 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
Publikováno v: Hormone Research in Paediatrics. 95:264-274
Introduction: Isolated SHOX haploinsufficiency is a common monogenic cause of short stature. Few studies compare untreated and rhGH-treated patients up to adult height (AH). Our study highlights a growth pattern from childhood to AH in patients with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f725a4f22addf2ac734bc4e41a79381
https://doi.org/10.1159/000524374
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3
Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood
Autor: Rafael Loch Batista, Valéria Aparecida Costa Hong, Ivo J.P. Arnhold, Luiz Aparecido Bortolotto, Isabela Peixoto Biscotto, Luciani R. Carvalho, Berenice B. Mendonca
Publikováno v: Pituitary. 24:216-228
To evaluated the metabolic profiles and vascular properties in congenital growth hormone (GH) deficiency (GHD) and its replacement in adults. Cross-sectional study conducted in a single tertiary center for pituitary diseases. Eighty-one adult subject
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106429a74b644d5f333ccf1f28ffe20c
https://doi.org/10.1007/s11102-020-01099-z
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4
A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation
Autor: Marilena Nakaguma, Berenice B. Mendonca, Gabriela A Vasques, Luciana Pinto Brito, Alexander A. L. Jorge, Ivo J.P. Arnhold, Thais H. Inoue-Lima
Publikováno v: Hormone Research in Paediatrics. 93:197-205
Background: The utility of insulin-like growth factor type 1 (IGF-1) is well established in the diagnosis of growth hormone deficiency (GHD), whereas IGF-binding protein type 3 (IGFBP-3) has a more controversial role. Most studies evaluated the value
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab622ed4cf9325f085b7b8b133d6802b
https://doi.org/10.1159/000509840
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5
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
Autor: 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
Publikováno v: Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1128, p 1128 (2021)
We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d878751145231698c34a43ca273f98f0
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7
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Autor: 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
Publikováno v: Endocrine Connections, Vol 8, Iss 5, Pp 590-595 (2019)
Endocrine Connections
Aim Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of
Externí odkaz: 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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8
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
Autor: Marilena Nakaguma, Thais H. Inoue-Lima, Alexander A. L. Jorge, Renata C. Scalco, Ivo J.P. Arnhold, Berenice B. Mendonca, Gabriela A Vasques
Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 32:173-179
Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe3407c6024747199f24ba66bc794471
https://doi.org/10.1515/jpem-2018-0435
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10
The phenotypic spectrum associated with OTX2 mutations in humans
Autor: Anna Flavia Figueredo Benedetti, Michele Moreira Poina, Mohamad Maghnie, Ivo J.P. Arnhold, Mehul T. Dattani, Hironori Bando, Mark J. McCabe, Qing Fang, Berenice B. Mendonca, Marilena Nakaguma, Alexander A. L. Jorge, Ayse Bilge Ozel, Louise C. Gregory, Antonio M. Lerario, Giuseppa Patti, Sally A. Camper, Luciani R. Carvalho, Peter Gergics, Qianyi Ma, Jun Li
Publikováno v: European Journal of Endocrinology
Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary development. Design We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study func
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3575fa9e5e8aa52f70ccabc922e4273
http://hdl.handle.net/11567/1057642
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