Výsledky vyhledávání - "Carlos A. Tonelli"

Akademický článek

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Autor: Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge

Publikováno v: Genetics and Molecular Biology, Vol 40, Iss 2, Pp 436-441 (2017)

ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of t

Externí odkaz: https://doaj.org/article/d662dc41a14d4187960452232e373408

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Clinical efficacy of capsules containing standardized extract of Bauhinia forficata Link (pata-de-vaca) as adjuvant treatment in type 2 diabetes patients: A randomized, double blind clinical trial

Autor: Cristiane Ritter, Felipe Dal-Pizzol, Carlos André Tonelli, Simone Quintana de Oliveira, Andriele Vieira, Maique W. Biavatti, Angela Machado de Campos, Flávio Henrique Reginatto

Publikováno v: Journal of Ethnopharmacology. 282:114616

Ethnopharmacological relevance Bauhinia forficata Link, is a Brazilian native plant and popularly known as pata-de-vaca (“paw-of-cow”). The tea prepared with their leaves has been extensively used in the Brazilian traditional practices for the di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6ee0dd9fb72973e2b43d8ceb479939
https://doi.org/10.1016/j.jep.2021.114616

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Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Autor: Alexandre C. Pereira, M.M.S.G. Cardena, Rosana Midori Aracava, Carlos A. Tonelli, Hadassa Campos Santos, Renata C. Scalco, Cintia Fridman, Alexander A. L. Jorge, Mariana F A Funari, Fernanda de Toledo Gonçalves

Publikováno v: Genetics and Molecular Biology v.40 n.2 2017
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 40, Issue: 2, Pages: 436-441, Published: 05 JUN 2017
Genetics and Molecular Biology, Vol 40, Iss 2, Pp 436-441 (2017)

Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07bbb81fd8cd0c88c6fa3ea79970f98
https://doi.org/10.1590/1678-4685-gmb-2016-0231

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STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

Autor: Carlos A. Tonelli, Alicia Belgorosky, Hector Jasper, Roxana Marino, Jan M. Wit, Horacio M. Domené, Renata C. Scalco, Ron G. Rosenfeld, Alexander A. L. Jorge, Alberto M. Pereira, Vivian Hwa

Publikováno v: European Journal of Endocrinology, 173(3), 291-296
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Context and objective: GH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessivecondition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mildheight reduction.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997636e3f885e5c116f98994c3874131
https://doi.org/10.1530/eje-15-0398

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Akademický článek

Diretório para o ministério e a vida dos presbíteros.

Autor: Velloso Domingues, Carlos Roberto Tonelli

Publikováno v: Lumen Veritatis. jul-set2014, Vol. 7 Issue 28, p365-369. 5p.

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A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

Autor: Carlos A. Tonelli, Patricia N Pugliese-Pires, Mauro Czepielewski, Genoir Simoni, Alexander A. L. Jorge, José Miguel Dora, Paulo Cesar Alves da Silva, Ivo J.P. Arnhold

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

BackgroundGH insensitivity (GHI) syndrome caused by STAT5B mutations was recently reported, and it is characterized by extreme short stature and immune dysfunction. Treatment with recombinant human IGF1 (rhIGF1) is approved for patients with GHI, but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e613efbd0e0b48c887cee6accd064e77
https://doi.org/10.1530/eje-10-0272

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