Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eduardo Enrique Castilla"'
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:
Camilla Dutra Vieira-Machado, Maluah Tostes, Gabrielle Alves, Julio Nazer, Liliana Martinez, Elisabeth Wettig, Oscar Pizarro Rivadeneira, Marcela Diaz Caamaño, Jessica Larenas Ascui, Pedro Pavez, Maria da Graça Dutra, Eduardo Enrique Castilla, Ieda Maria Orioli
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 4, Pp 573-579
Abstract The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean
Externí odkaz:
https://doaj.org/article/a62d65c1477949baa54bc442c4a61701
Autor:
Camilla Dutra Vieira-Machado, Maluah Tostes, Gabrielle Alves, Julio Nazer, Liliana Martinez, Elisabeth Wettig, Oscar Pizarro Rivadeneira, Marcela Diaz Caamaño, Jessica Larenas Ascui, Pedro Pavez, Maria da Graça Dutra, Eduardo Enrique Castilla, Ieda Maria Orioli
Publikováno v:
Genetics and Molecular Biology, Iss 0
Abstract The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean
Externí odkaz:
https://doaj.org/article/c909f5347a6e40b0a9ebe5eb95bf960f
Autor:
Juan Antonio, Gili, Fernando Adrián, Poletta, Lucas Gabriel, Giménez, Mariela Soledad, Pawluk, Hebe, Campaña, Eduardo Enrique, Castilla, Jorge Santiago, López-Camelo
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 106(4)
The birth prevalence rate (BPR) of congenital anomalies (CAs) is heterogeneous and exhibits geographical and sociocultural variations throughout the world. In South America (SA), high birth prevalence regions of congenital anomalies have been observe
Publikováno v:
Pesquisa Odontológica Brasileira, Vol 17, Iss 2, Pp 161-165 (2003)
Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South Americ
Publikováno v:
Teratology. 16:203-209
Seven different limb malformation types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, sympha