Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Luciani R Carvalho"'
Autor:
Nathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, Renata Kertsz, Juliana M Marques, Nicholas S S Trigueiro, Anna Flavia Figueredo Benedetti, Bruna V Azevedo, Bianca H V Fernandes, Debora D Bissegatto, Isabela P Biscotto, Qing Fang, Qianyi Ma, Asye B Ozel, Jun Li, Sally A Camper, Alexander A L Jorge, Berenice B Mendonça, Ivo J P Arnhold, Luciani R Carvalho
Publikováno v:
Endocrine Connections, Vol 12, Iss 8, Pp 1-12 (2023)
Context: Congenital hypopituitarism is a genetically heterogeneous cond ition. Whole exome sequencing (WES) is a promising approach for molecular di agnosis of patients with this condition. Objectives: The aim of this study is to conduct WES in a pat
Externí odkaz:
https://doaj.org/article/61bdf034805c413e97b2ca2ea28e0932
Autor:
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 63, Iss 2, Pp 167-174 (2019)
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized t
Externí odkaz:
https://doaj.org/article/e0e1cc0d95ea4c57a355fb956a500abd
Autor:
Luciani R. Carvalho, Michael L. Kent, Debora Bissegato, Bianca Helena Ventura Fernandes, Caroline Caetano da Silva
Publikováno v:
Journal of Fish Diseases. 45:35-39
Along with the growing number of laboratories that work with zebrafish (Danio rerio), it is necessary to have animals with good sanitary quality. Specific pathogens can interfere with the experimental results and in the life quality of the animals. P
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
Autor:
Bianca H. Ventura Fernandes, Natália Martins Feitosa, Ana Paula Barbosa, Camila Gasque Bomfim, Anali M.B. Garnique, Ivana F. Rosa, Maira S. Rodrigues, Lucas B. Doretto, Daniel F. Costa, Bruno Camargo-dos-Santos, Gabrielli A. Franco, João Favero Neto, Juliana Sartori Lunardi, Marina Sanson Bellot, Nina Pacheco Capelini Alves, Camila C. Costa, Mayumi F. Aracati, Letícia F. Rodrigues, Rafaela Hemily Cirilo, Raul Marcelino Colagrande, Francisco I.F. Gomes, Rafael T. Nakajima, Marco A.A. Belo, Percília Cardoso Giaquinto, Susana Luporini de Oliveira, Silas Fernandes Eto, Dayanne Carla Fernandes, Wilson G. Manrique, Gabriel Conde, Roberta R.C. Rosales, Iris Todeschini, Ilo Rivero, Edgar Llontop, Germán G. Sgro, Gabriel Umaji Oka, Natalia Fernanda Bueno, Fausto K. Ferraris, Mariana T.Q. de Magalhães, Renata J. Medeiros, Juliana M. Mendonça-Gomes, Mara Souza Junqueira, Kátia Conceição, Leticia Gomes de Pontes, Antonio Condino-Neto, Andrea C. Perez, Leonardo J.G. Barcellos, José Dias Correa Júnior, Erick Gustavo Dorlass, Niels O.S. Camara, Edison Luiz Durigon, Fernando Q. Cunha, Rafael H. Nóbrega, Glaucia M. Machado-Santelli, Chuck S. Farah, Flavio P. Veras, Jorge Galindo-Villegas, Letícia V. Costa-Lotufo, Thiago M. Cunha, Roger Chammas, Luciani R. Carvalho, Cristiane R. Guzzo, Guilherme Malafaia, Ives Charlie-Silva
Publikováno v:
The Science of the Total Environment
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Despite the significant increase in the generation of SARS-CoV-2 contaminated domestic and hospital wastewater, little is known about the ecotoxicological effects of the virus or its structural components in freshwater vertebrates. In this context, t
Publikováno v:
Journal of the Endocrine Society. 6:A463-A463
Introduction An intact GH-IGF-1 axis is known to be essential for proper growth. However, cases in which individuals with growth hormone deficiency (GHD) reach target height without the use of GH suggest that other mechanisms may play a role in the g
Publikováno v:
Journal of the Endocrine Society. 6:A462-A462
Introduction Zebrafish has been used as an animal model to study human disease due to its 75% genetic homology with humans besides easier maintenance, small size and high reproductive rate. knockout Gene through CRISPR/Cas genomic edition can lead to
Autor:
Bianca H, Ventura Fernandes, Caroline, Caetano da Silva, Debora, Bissegato, Michael L, Kent, Luciani R, Carvalho
Publikováno v:
Journal of fish diseasesREFERENCES. 45(1)
Along with the growing number of laboratories that work with zebrafish (Danio rerio), it is necessary to have animals with good sanitary quality. Specific pathogens can interfere with the experimental results and in the life quality of the animals. P
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)
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
Autor:
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
Publikováno v:
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 Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
International audience; Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
https://hal-amu.archives-ouvertes.fr/hal-03293410/document