Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Marcelo Aguiar Costa, Lima"'
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:
Márcia R. Amorim, Thereza Quirico-Santos, Cláudia de Melo Moura, Márcia Gonçalves Ribeiro, Hazel N. Barboza, Marcelo Aguiar Costa-Lima, Joissy Aprigio
Publikováno v:
Journal of Molecular Neuroscience. 70:1410-1414
Down syndrome (DS) is the most common form of mental disability of genetic etiology. Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free trisomy 21 cases originate from missegregation in maternal meiosis. Several re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c2fbfe3baa4e8162160043150d92ed
https://doi.org/10.1007/s12031-020-01561-4
https://doi.org/10.1007/s12031-020-01561-4
Publikováno v:
Human cell. 35(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::076d7f91017ae09d9195c9cbea6bd6d2
https://pubmed.ncbi.nlm.nih.gov/34613586
https://pubmed.ncbi.nlm.nih.gov/34613586
Publikováno v:
Human Cell. 35:421-422
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4e6ca542ba9c50c0d893bc9d45aa3b7
https://doi.org/10.1007/s13577-021-00631-y
https://doi.org/10.1007/s13577-021-00631-y
Autor:
Márcia Gonçalves Ribeiro, Marcelo Aguiar Costa-Lima, Julyana Ribeiro, Claudia Melo Moura, Márcia R. Amorim, Pedro Ribeiro Bastos
Publikováno v:
Saudi Journal of Biological Sciences, Vol 25, Iss 1, Pp 101-104 (2018)
Down syndrome (DS) is the most common form of human genetic mental retardation. Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial. S-adenosyl-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174b3e700f202dd071514414243c88c8
http://www.sciencedirect.com/science/article/pii/S1319562X17302309
http://www.sciencedirect.com/science/article/pii/S1319562X17302309
Publikováno v:
Genetic Testing and Molecular Biomarkers. 17:69-73
Down syndrome (DS) is the most common cause of mental retardation. Recent reports have investigated possible genetic factors that may increase maternal risk for DS. Methionine synthase reductase (5-methyltetrahydrofolate-homocysteine methyltransferas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c487e940e255b3572ff0dc272049b65
https://doi.org/10.1089/gtmb.2012.0200
https://doi.org/10.1089/gtmb.2012.0200
Autor:
Marcelo Aguiar Costa Lima, Thereza Quirico-Santos, Joissy Aprigio, Márcia Gonçalves Ribeiro, Márcia R. Amorim, Hazel N. Barboza, Carolina Felix Araujo
Publikováno v:
Journal of Down Syndrome & Chromosome Abnormalities.
The collection of buccal epithelial cells derived from saliva has been an alternative source to obtain human DNA, especially from newborns and patients with mental disabilities. Healthy volunteers without history of genetic or neurological disease we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02b959eb16c534b08f48d51698ec7c9a
https://doi.org/10.4172/2472-1115.1000114
https://doi.org/10.4172/2472-1115.1000114
Autor:
Stenio Fernando Pimentel Duarte, Márcia Mattos Gonçalves Pimentel, Raquel de Souza Gestinari, Marcelo Aguiar Costa Lima
Publikováno v:
Genetic Testing. 8:281-285
Spinocerebellar ataxia type 3 is the most common form of autosomal dominant cerebellar ataxia. It is a severe progressive neurological disorder caused by an expansion of an exonic CAG repeat of the MJD1 gene. The repeated sequence is polymorphic amon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cdc2315fd7dfee3dc708730c7fd0ed8
https://doi.org/10.1089/gte.2004.8.281
https://doi.org/10.1089/gte.2004.8.281
Publikováno v:
Molecular biology reports. 40(3)
The association between Down syndrome (DS) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. A meta-analysis was performed to evaluate the association of maternal MTHFR 677CT polymorphism and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651e0751f452393accf65aa1bd30640c
https://pubmed.ncbi.nlm.nih.gov/23184006
https://pubmed.ncbi.nlm.nih.gov/23184006
Autor:
Renata F. Fonseca, Eduardo E. Castilla, Eliana Ternes Pereira, Marcelo Aguiar Costa-Lima, Iêda M. Orioli
Publikováno v:
Molecular medicine reports. 1(5)
Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa5930d9242b2542f64e52f82ad9205
https://pubmed.ncbi.nlm.nih.gov/21479481
https://pubmed.ncbi.nlm.nih.gov/21479481