Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Gil M. Novo‐Filho"'
Autor:
Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias
Externí odkaz:
https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4
Autor:
Amom M. Nascimento, Luiza Ramos, João Paulo Kitajima, Samar N. Chehimi, Fabíola Paoli Monteiro, Larissa Sampaio de Athayde Costa, Evelin Aline Zanardo, Alexandre T. Dias, Fernando Kok, Gil M. Novo-Filho, Leslie Domenici Kulikowski, Marília M. Montenegro, Y. G. Oliveira
Publikováno v:
The Journal of Molecular Diagnostics. 22:1041-1049
Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype. With the improvement of software and databases, whole-exome sequencing
Autor:
Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 prim
Autor:
Caio Robledo D'Angioli Costa Quaio, Andréia Rangel-Santos, Guilherme L. Yamamoto, Evelin Aline Zanardo, Estela Maria Novak, Chong Ae Kim, Thaís Virgínia Moura Machado Costa, Patricia Palmeira, Rachel S. Ronjo, Julian Damasceno, Gil M. Novo-Filho, Samar N. Chehimi, Yanca Gasparini, Alexandre T. Dias, Alberto José da Silva Duarte, Luiz Lehmann Coutinho, Thamires M. Gimenez, Amom M. Nascimento, Marília M. Montenegro, Leslie Domenici Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early
Autor:
J. G. Damasceno, Roberta Lelis Dutra, Marília M. Montenegro, Leslie Domenici Kulikowski, Thaís Virgínia Moura Machado Costa, Flavia Balbo Piazzon, Maria Isabel Melaragno, Chong Ae Kim, Evelin Aline Zanardo, Gil M. Novo-Filho, Alexandre T. Dias, F. A. R. Madia, Amom M. Nascimento
Publikováno v:
Clinics, Vol 72, Iss 9, Pp 526-537
Clinics
Clinics, Volume: 72, Issue: 9, Pages: 526-537, Published: SEP 2017
Clinics; v. 72 n. 9 (2017); 526-537
Clinics; Vol. 72 Núm. 9 (2017); 526-537
Clinics; Vol. 72 No. 9 (2017); 526-537
Universidade de São Paulo (USP)
instacron:USP
Clinics
Clinics, Volume: 72, Issue: 9, Pages: 526-537, Published: SEP 2017
Clinics; v. 72 n. 9 (2017); 526-537
Clinics; Vol. 72 Núm. 9 (2017); 526-537
Clinics; Vol. 72 No. 9 (2017); 526-537
Universidade de São Paulo (USP)
instacron:USP
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is impo
Autor:
Susan Gitlin, Maelin da Silva, Eliana Feldberg, Marie Altmanová, Petr Ráb, Alexandre T. Dias, Diogo Cavalcanti Cabral-de-Mello, Amom M. Nascimento, Irene Madrigal, Maria do Mar Oom, Flavia Balbo Piazzon, Filomena Adega, Tatiane C. Mariguela, Roberta Lelis Dutra, Yo Niida, Michail Rovatsos, Marília M. Montenegro, Allison Anjos, Baptiste Carton, Ester Margarit, Leslie Domenici Kulikowski, Kim Labuschagne, Anne-Marie Dutrillaux, Masatsune Itoh, Antoinette Kotze, Helena J. Kjöllerström, Tyl H. Taylor, Lukáš Kratochvíl, Shiv D. Kale, Patricia Barbosa, Cassia Fernanda Yano, Roberto Ferreira Artoni, Satz Mengensatzproduktion, Darren K. Griffin, Rachel Sayuri Honjo, Lauren Johnson, Taís V.M.M. Costa, Evelin Aline Zanardo, Urarikha Kongprom, S. Katz, Gil M. Novo-Filho, Chong Ae Kim, Hitoshi Sato, Carlos Fernandes, Mamoru Ozaki, Gabriela C. Rocha, Cèlia Badenas, Andressa Paladini, Kanju Ikeno, Tariq Ezaz, Etsuko Takase, Druckerei Stückle, Kornsorn Srikulnath, Anna Soler, Luiz Antonio Carlos Bertollo, Virginia Borobio, Sebastian Maciak, Sudarath Baicharoen, Zuzana Majtánová, Yuriko Hirai, Jack L. Crain, Hirohisa Hirai, Lauriane Cacheux, Bernard Dutrillaux, Marcelo de Bello Cioffi, Oladele I. Jegede, Ezequiel Aguiar de Oliveira, Pawel Michalak, Martina Johnson Pokorná, Aurora Sánchez, Míriam Muñoz, Raquel Chaves, Sébastien Lavoué, Katarzyna Michalak, Raquel Matoso Silva
Publikováno v:
Cytogenetic and Genome Research. 149:I-IV
Autor:
J. G. Damasceno, Marília M. Montenegro, Amom M. Nascimento, Leslie Domenici Kulikowski, Chong Ae Kim, Samar N. Chehimi, Gleyson F.S. Carvalho, Alexandre T. Dias, Evelin Aline Zanardo, Gil M. Novo-Filho, Y. G. Oliveira
Publikováno v:
Meta Gene. 24:100702
Genomic rearrangements encompass deletions, duplications, inversions, insertions and translocations and may be the cause of several genetic diseases. One of the most frequent mechanisms that generate these rearrangements is the Non-Allelic Homologous
Autor:
Flavia Balbo Piazzon, Juan C. Llerena, M. F. Galera, Gil M. Novo-Filho, Alexandre T. Dias, Angelina Xavier Acosta, Evelin Aline Zanardo, F. A. R. Madia, Roberta Lelis Dutra, Marília M. Montenegro, Leslie Domenici Kulikowski, J. B. de Melo, Rachel Sayuri Honjo, Paula Frassinetti Vasconcelos de Medeiros, Débora Romeo Bertola, Chong Ae Kim, José Ricardo Magliocco Ceroni
Publikováno v:
Scientific Reports
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within
Autor:
Amom M. Nascimento, Samar N. Chehimi, Rachel Sayuri Honjo, Thaís Virgínia Moura Machado Costa, José Ricardo Magliocco Ceroni, Gil M. Novo-Filho, Alexandre T. Dias, Yanca Gasparini, Chong Ae Kim, F. A. R. Madia, Evelin Aline Zanardo, Leslie Domenici Kulikowski, J. G. Damasceno, Marília M. Montenegro
Publikováno v:
Cytogenetic and genome research. 157(3)
Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly,
Autor:
Thaís Virgínia Moura Machado Costa, Leslie Domenici Kulikowski, Amom M. Nascimento, Gil M. Novo-Filho, Chong Ae Kim, Evelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, Marília M. Montenegro, Alexandre T. Dias
Publikováno v:
Molecular Genetics and Genomics. 289:1037-1043
Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the structural genomic of a dosage-sensitive genes. However, the mechanisms that promote the complexit