Zobrazeno 1 - 10 of 24 pro vyhledávání: '"Juliana Gilbert"'
1
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Autor: Marion Coting Braga, Ana Maria Martins, Lauro Thiago Turaça, Renan Paulo Martin, Vânia D'Almeida, Maryana Mara Marins, Patrícia Siqueira Varela, Priscila Nicolicht, Henrique Lage Ferreira Ferrer, João Bosco Pesquero, Juliana Gilbert Pessoa, Fabiana Louise Motta, Caio Perez Gomes, Gianna Mastroianni Kirsztajn
Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3159414226ab8ca1ca4e1b96fe9e6c
http://europepmc.org/articles/PMC6990533
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2
Production of radiculars organic acid of sugar cane submitted to aluminum stress
Autor: Pessoa, Juliana Gilbert
Publikováno v: Repositório Institucional da UFSCAR
Universidade Federal de São Carlos (UFSCAR)
instacron:UFSCAR
Não recebi financiamento There are prospects of increases in the productivity of the sugarcane crop with the suitability of the varieties to the edaphoclimatic zoning. Several restrictions on the expression of the genetic potential of the varieties
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::a0db310c2431f0e4249d687abf1ab973
https://repositorio.ufscar.br/handle/ufscar/11418.
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3
Cutaneous collagenous vasculopathy: development after coronary artery bypass surgery
Autor: Callie Burgin, Sahand Rahnama-Moghadam, Simon Warren, Juliana Gilbert
Publikováno v: Rahnama-Moghadam, Sahand; Burgin, Callie; Gilbert, Juliana; & Warren, Simon. (2018). Cutaneous collagenous vasculopathy: development after coronary artery bypass surgery. Dermatology Online Journal, 24(5). Retrieved from: http://www.escholarship.org/uc/item/0k8258qw
Cutaneous collagenous vasculopathy (CCV) is a rare benign microangiopathy of the superficial dermal vessels. Clinically, it is characterized by widespread, asymptomatic development of cutaneous telangiectasia in the absence of systemic symptoms. Morp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0344cdd4ee4a8d764f991d3978da5d02
http://www.escholarship.org/uc/item/0k8258qw
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5
Novel GAA mutations in patients with Pompe disease
Autor: Ana Maria Martins, Valber Dias Teixeira, Sandro Soares de Almeida, João Bosco Pesquero, Lauro Thiago Turaça, Maria Verônica Munoz Rojas, Sandra Obikawa Kyosen, Fabiana Louise Motta, Juliana Gilbert Pessoa, Vânia D'Almeida, Marina Rodrigues e Silva, Douglas Oliveira Soares de Faria
Publikováno v: Gene. 561(1)
Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important for early diagnosis, correlation between genotype-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ed536c55c0add423b7f253a8c2ee63
https://pubmed.ncbi.nlm.nih.gov/25681614
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7
New mutations in the GLA gene in Brazilian families with Fabry disease
Autor: Karen Barbosa Müller, Charles Marques Lourenço, Wilson Marques, Juliana Gilbert Pessoa, João Bosco Pesquero, Fabiana Louise Motta, Lauro Thiago Turaça, Vania D'Almeida, Maria Verônica Munoz Rojas, Ana Maria Martins
Publikováno v: Journal of human genetics. 57(6)
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee47c2d15274d710112721201315fa2
https://pubmed.ncbi.nlm.nih.gov/22551898
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8
Regression does not predict nodal metastasis or survival in patients with cutaneous melanoma
Autor: Alison L, Burton, Juliana, Gilbert, Russell W, Farmer, Arnold J, Stromberg, Lee, Hagendoorn, Merrick I, Ross, Robert C G, Martin, Kelly M, McMasters, Charles R, Scoggins, Glenda G, Callender
Publikováno v: The American surgeon. 77(8)
Controversy exists regarding the prognostic implications of regression in patients with cutaneous melanoma. Some consider regression to be an indication for sentinel lymph node (SLN) biopsy because regression may result in underestimation of the true
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d0bb309f4e66e6e8a5641ca642d1ea7
https://pubmed.ncbi.nlm.nih.gov/21944515
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9
Akademický článek
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10
The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags
Autor: Helena, Brentani, Otávia L, Caballero, Anamaria A, Camargo, Aline M, da Silva, Wilson Araújo, da Silva, Emmanuel, Dias Neto, Marco, Grivet, Arthur, Gruber, Pedro Edson Moreira, Guimaraes, Winston, Hide, Christian, Iseli, C Victor, Jongeneel, Janet, Kelso, Maria Aparecida, Nagai, Elida Paula Benquique, Ojopi, Elisson C, Osorio, Eduardo M R, Reis, Gregory J, Riggins, Andrew John George, Simpson, Sandro, de Souza, Brian J, Stevenson, Robert L, Strausberg, Eloiza H, Tajara, Sergio, Verjovski-Almeida, Marcio Luis, Acencio, Mário Henrique, Bengtson, Fabiana, Bettoni, Walter F, Bodmer, Marcelo R S, Briones, Luiz Paulo, Camargo, Webster, Cavenee, Janete M, Cerutti, Luis Eduardo, Coelho Andrade, Paulo César, Costa dos Santos, Maria Cristina, Ramos Costa, Israel Tojal, da Silva, Marcos Roberto H, Estécio, Karine, Sa Ferreira, Frank B, Furnari, Milton, Faria, Pedro A F, Galante, Gustavo S, Guimaraes, Adriano Jesus, Holanda, Edna Teruko, Kimura, Maarten R, Leerkes, Xin, Lu, Rui M B, Maciel, Elizabeth A L, Martins, Katlin Brauer, Massirer, Analy S A, Melo, Carlos Alberto, Mestriner, Elisabete Cristina, Miracca, Leandro Lorenco, Miranda, Francisco G, Nobrega, Paulo S, Oliveira, Apua C M, Paquola, José Rodrigo C, Pandolfi, Maria Ines de Moura, Campos Pardini, Fabio, Passetti, John, Quackenbush, Beatriz, Schnabel, Mari Cleide, Sogayar, Jorge E, Souza, Sandro R, Valentini, Andre C, Zaiats, Elisabete Jorge, Amaral, Liliane A T, Arnaldi, Amelia Goes, de Araújo, Simone Aparecida, de Bessa, David C, Bicknell, Maria Eugenia, Ribeiro de Camaro, Dirce Maria, Carraro, Helaine, Carrer, Alex F, Carvalho, Christian, Colin, Fernando, Costa, Cyntia, Curcio, Ismael Dale Cotrim, Guerreiro da Silva, Neusa, Pereira da Silva, Márcia, Dellamano, Hamza, El-Dorry, Enilza Maria, Espreafico, Ari José, Scattone Ferreira, Cristiane, Ayres Ferreira, Maria Angela H Z, Fortes, Angelita Habr, Gama, Daniel, Giannella-Neto, Maria Lúcia C C, Giannella, Ricardo R, Giorgi, Gustavo Henrique, Goldman, Maria Helena S, Goldman, Christine, Hackel, Paulo Lee, Ho, Elza Myiuki, Kimura, Luiz Paulo, Kowalski, Jose E, Krieger, Luciana C C, Leite, Ademar, Lopes, Ana Mercedes S C, Luna, Alan, Mackay, Suely Kazue Nagahashi, Mari, Adriana Aparecida, Marques, Waleska K, Martins, André, Montagnini, Mario, Mourão Neto, Ana Lucia T O, Nascimento, A Munro, Neville, Marina P, Nobrega, Mike J, O'Hare, Audrey Yumi, Otsuka, Anna Izabel, Ruas de Melo, Maria Luisa, Paco-Larson, Gonçalo, Guimarães Pereira, Joao Bosco, Pesquero, Juliana Gilbert, Pessoa, Paula, Rahal, Claudia Aparecida, Rainho, Vanderlei, Rodrigues, Silvia Regina, Rogatto, Camila Malta, Romano, Janaina Gusmao, Romeiro, Benedito Mauro, Rossi, Monica, Rusticci, Renata, Guerra de Sá, Simone Cristina, Sant' Anna, Miriam L, Sarmazo, Teresa Cristina de Lima E, Silva, Fernando Augusto, Soares, Maria de Fátima, Sonati, Josane, de Freitas Sousa, Diana, Queiroz, Valéria, Valente, André Luiz, Vettore, Fabiola Elizabeth, Villanova, Marco Antonio, Zago, Heloisa, Zalcberg
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 100(23)
Whereas genome sequencing defines the genetic potential of an organism, transcript sequencing defines the utilization of this potential and links the genome with most areas of biology. To exploit the information within the human genome in the fight a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7e46ed91748cacbfe8d981929696a8
https://pubmed.ncbi.nlm.nih.gov/14593198
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