Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Gleyson F.S. Carvalho"'
Autor:
Vanessa T. Almeida, Samar N. Chehimi, Yanca Gasparini, Amom M. Nascimento, Gleyson F.S. Carvalho, Marília M. Montenegro, Évelin Aline Zanardo, Alexandre T. Dias, Nilson A. Assunção, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Mol Syndromol
Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The karyotype is useful to confirm deletions in the short arm of chromosome 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575441fc9cd2f5fbc30d7f55f3d8a2e5
https://europepmc.org/articles/PMC9843554/
https://europepmc.org/articles/PMC9843554/
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b55c684f83ca6a7fb3bfb9f0ae8b483
https://doi.org/10.1016/j.mgene.2020.100702
https://doi.org/10.1016/j.mgene.2020.100702
