Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maria de Jesus Esteves Camilo"'
Autor:
Carlos Roberto da Fonseca, Kleber da Silva Figueiredo, Lúcia de Fátima Marques de Moraes, Elenice Ferreira Bastos, Sara Fabíola da Silva Oliveira, Juan C. Llerena, Maria de Jesus Esteves Camilo, Ingrid Bendas Feres Lima, Anna Luiza Vaz Serrão
Publikováno v:
International Journal of Genetics and Genomics. 7:50
The Miller-Dieker syndrome (MDS) is a severe neurological disorder characterized by lissencephaly, facial dysmorphies, global developmental delay and severe seizures. A deletion at 17p13.3, including the lissencephaly gene (LIS1), is usually present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82f53c2c8fd3204fac295a75bbc3063b
https://doi.org/10.11648/j.ijgg.20190703.12
https://doi.org/10.11648/j.ijgg.20190703.12
Autor:
Juan C. Llerena, Maria de Jesus Esteves Camilo, Milene Mulatinho, Héctor N. Seuánez, José Carlos Cabral de Almeida, Lúcia de Fátima Marques de Moraes, Fernando Regla Vargas, Hilda I.B. Ramos, Leila C.A. Cardoso
Publikováno v:
European Journal of Medical Genetics. 51:588-597
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal orig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec0d529624ee75a0d45c5459be71116
https://doi.org/10.1016/j.ejmg.2008.06.008
https://doi.org/10.1016/j.ejmg.2008.06.008