Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Clarice Pagani Savastano"'
Autor:
Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise Pontes Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena Jr, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Hector N. Seuánez, Eduardo Enrique Castilla, Iêda Maria Orioli
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 250-262 (2014)
Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microfo
Externí odkaz:
https://doaj.org/article/2c49f53a85b04a1988e64794050857aa
Autor:
Ana Maria Bolognese, Milagros M. Duenas-Roque, Viviane Freitas de Castro, Maria Teresa Vieira Sanseverino, Viviana Cosentino, Rachel Sayuri Honjo, Larissa Souza Mario Bueno, Juan C. Llerena, Luiz Carlos Santana da Silva, Júlio César Loguercio Leite, Daniel Mattos, Márcia Pereira Alves de Souza, Denise P. Cavalcanti, Pablo Barbero, Pricila Bernardi, Flávia Martinez de Carvalho, Patrícia Santana Correia, Clarice Pagani Savastano, Iêda M. Orioli
Publikováno v:
Molecular Syndromology. 12:219-233
Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous va
Autor:
Miguel Ângelo Martins Moreira, Pricila Bernardi, Clarice Pagani Savastano, Hector N. Seuanez, Iêda M. Orioli
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 100(4)
BACKGROUND Holoprosencephaly (HPE) is a spectrum of midline malformations of the prosencephalon generally reflected in a continuum of midline facial anomalies. Patients with mutation in the ZIC2 gene usually present a normal or mildly dysmorphic face