Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Amom Mendes Nascimento"'
Autor:
Márcia Regina Gimenes Adriano, Adriana Bortolai, Fabricia Andreia Rosa Madia, Gleyson Francisco da Silva Carvalho, Amom Mendes Nascimento, Evelin Aline Zanardo, Beatriz Martins Wolff, Jaques Waisberg, Adriana Bos-Mikich, Leslie Domenici Kulikowski, Alexandre Torchio Dias
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Objectives Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed
Externí odkaz:
https://doaj.org/article/f673c6a245e74016ab422667c910d7f1
Autor:
Évelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, Alexandre Torchio Dias, Gil Monteiro Novo-Filho, Amom Mendes Nascimento, Marília Moreira Montenegro, Jullian Gabriel Damasceno, Fabrícia Andreia Rosa Madia, Thaís Virgínia Moura Machado da Costa, Maria Isabel Melaragno, Chong Ae Kim, Leslie Domenici Kulikowski
Publikováno v:
Clinics, Vol 72, Iss 9, Pp 526-537
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
Externí odkaz:
https://doaj.org/article/413012ade3d046faa1f30ece735eaf52
Autor:
André Macedo Serafim Silva, Patricia Rodrigo, Cristiane Araújo Martins Moreno, Rodrigo de Holanda Mendonça, Eduardo de Paula Estephan, Clara Gontijo Camelo, Eliene Dutra Campos, Alexandre Torchio Dias, Amom Mendes Nascimento, Leslie Domenici Kulikowski, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Lev G Goldfarb, Montse Olivé, Edmar Zanoteli
Publikováno v:
Journal of neuropathology and experimental neurology. 81(9)
Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed
Autor:
Samar Nasser Chehimi, Vanessa Tavares Almeida, Amom Mendes Nascimento, Évelin Aline Zanardo, Yanca Gasparini de Oliveira, Gleyson Francisco da Silva Carvalho, Beatriz Martins Wolff, Marilia Moreira Montenegro, Nilson Antônio de Assunção, Chong Ae Kim, Leslie Domenici Kulikowski
Publikováno v:
Clinics, Volume: 77, Article number: 100045, Published: 06 JUL 2022
Objectives Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82304336cd81347b17743a736c8439f0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322022000100227&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322022000100227&lng=en&tlng=en
Autor:
Gleyson Francisco da Silva Carvalho, Thais Virginia Moura Machado Costa, Amom Mendes Nascimento, Beatriz Martins Wolff, Julian Gabriel Damasceno, Lucas Liro Vieira, Vanessa Tavares Almeida, Yanca Gasparini de Oliveira, Claudia Berlim de Mello, Mauro Muszkat, Leslie Domenici Kulikowski
Publikováno v:
Clinical Neurology and Neurosurgery. 228:107714
Autor:
Gil Monteiro Novo Filho, Gleyson Francisco da Silva Carvalho, Amom Mendes Nascimento, Marilia Moreira Montenegro, Julian Gabriel Damasceno, Évelin Aline Zanardo, Samar Nasser Chehimi, Yanca Gasparini Oliveira, Alexandre Torchio Dias, Chong Ae Kim, Leslie Domenici Kulikowski
Background: 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 generates these rearrangements is the Non-Allel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e9908748fcd10c3a0c37fec382a32dc
https://doi.org/10.21203/rs.2.20329/v1
https://doi.org/10.21203/rs.2.20329/v1