Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Luciana Cardoso Bonadia"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/43c7d5fca2634c0db9554dcf04cbf510
Autor:
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Publikováno v:
Genes, Vol 15, Iss 4, p 518 (2024)
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was d
Externí odkaz:
https://doaj.org/article/5eafca2b7b6e46029ea663a5139b3baf
Publikováno v:
Genetics and Molecular Biology, Vol 37, Iss 4, Pp 622-624 (2014)
Mutations in the FGFR3 gene cause the phenotypic spectrum of FGFR3 chondrodysplasias ranging from lethal forms to the milder phenotype seen in hypochondroplasia (Hch). The p.N540K mutation in the FGFR3 gene occurs in ~70% of individuals with Hch, and
Externí odkaz:
https://doaj.org/article/c753bc1e7e854b6a9cbd85fc1eee1740
Autor:
Kelly Santos, Sofia H.V. Lemos-Marini, Maria T.M. Baptista, Luciana Cardoso Bonadia, Walter Pinto Júnior, Carmen Sílvia Bertuzzo
Publikováno v:
Genetics and Molecular Biology, Vol 29, Iss 1, Pp 41-44 (2006)
Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this
Externí odkaz:
https://doaj.org/article/ae247afd9e92467e9b7143a735f66ed5
Autor:
Thiago J.R. Rezende, Gabriel S. Schmitt, Fabricio D. de Lima, Mariana Rabelo de Brito, Paula Camila A.A.P. Matos, Luciana Cardoso Bonadia, Alberto R.M. Martinez, Fernando Cendes, José Luiz Pedroso, Orlando G.P. Barsottini, Wilson Marques, Marcondes Cavalcante França
Publikováno v:
Movement Disorders. 37:2122-2128
RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.Th
Autor:
Joana Prota, Rodrigo Secolin, Paulo Caramelli, Luciana Cardoso Bonadia, Leonardo Cruz de Souza, Iscia Lopes-Cendes, Liara Rizzi, Marcio Luiz Figueredo Balthazar
Publikováno v:
Alzheimer's & Dementia. 18:523-528
Introduction Synaptophysin, already related to X-linked intellectual disability, is expressed mainly in the central nervous system. Studies in humans indicate that the downregulation of synaptophysin could be involved in the development of dementia.
Autor:
Luana Gavioli Santos, Stéphanie Villa-Nova Pereira, Arthur Henrique Pezzo Kmit, Luciana Cardoso Bonadia, Carmen Sílvia Bertuzzo, José Dirceu Ribeiro, Taís Nitsch Mazzola, Fernando Augusto Lima Marson
Publikováno v:
Gene. 871:147428
Autor:
Wilson Marques, Patrick A. Dion, Fabrício Diniz de Lima, Thiago Mazzo Peluzzo, Maria Thereza Drummond Gama, Marcondes C. França, Orlando Graziani Povoas Barsottini, Guy A. Rouleau, Fulya Akçimen, Luciana Cardoso Bonadia, Alberto R. M. Martinez, Felipe Franco da Graça, José Luiz Pedroso
Publikováno v:
The Cerebellum. 21:49-54
Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WE
Autor:
Carlos Eduardo Steiner, Marcella Bergamini de Baptista, Luciana Cardoso Bonadia, Carmen Silvia Bertuzzo, Diana Marcela Mejía Granados
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology. 13:1-10
Background Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology; therefore, its molecular and biolog
Autor:
Wilson Marques, Thiago Junqueira Ribeiro de Rezende, Pedro J. Tomaselli, Fernando Cendes, José Luiz Pedroso, Fabrício Diniz de Lima, Manoella Guerra de Albuquerque Bueno, Gabriel da Silva Schmitt, Alberto R. M. Martinez, Paula Camila Alves de Assis Pereira Matos, MarcondesCavalcante França, Fabiano Reis, Luciana Cardoso Bonadia, Orlando Graziani Povoas Barsottini
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 36(11)
Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late-onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional