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Insolation of Novel and Known Genes from a Human Fetal Cochlear cDNA Library Using Subtractive Hybridization and Differential Screening
(1994)
We used a combination of subtractive hybridization and differential screening strategies to identify genes that may function normally in hearing and, when mutated, result in deafness. A human fetal cochlear (membranous ...
Insolation of Novel and Known Genes from a Human Fetal Cochlear cDNA Library Using Subtractive Hybridization and Differential Screening
(1994)
We used a combination of subtractive hybridization and differential screening strategies to identify genes that may function normally in hearing and, when mutated, result in deafness. A human fetal cochlear (membranous ...
Alport autossômica: um estudo de duas famílias norte-rio-grandenses
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM BIOINFORMÁTICA, 2019-12-19)
Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology
associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and
COL4A5). Characterized by progressive loss of renal ...
Avaliação das características demográficas, clínicas e polimorfismo genético como fatores de risco para o prolapso pélvico em mulheres brasileiras
(Universidade Federal de São Paulo (UNIFESP), 2010-05-26)
Objective: To verify the possible association between the presence of the polymorphism in exon 31 of COL3A1 gene and the occurrence of genital prolapse in a sample of the population. Methods: case-control study involving ...
Análise do polimorfismo e da expressão de genes de reparo tecidual na leishmaniose tegumentar americana causada pela infecção por Leishmania braziliensis
(Faculdade de Medicinaem Ciências da SaúdeUFBAbrasil, 2017-03-23)
Estudos prévios têm demonstrado um papel para os genes de cura de lesão na resolução das lesões cutâneas causadas por espécies de Leishmania em camundongos e humanos, incluindo o gene FLI1 (Friend leukemia vírus integration ...
Expresión esquelética y regulación transcripcional de los genes de colágenos fibrilares de los grupos A y B en xenopus tropicales.
(Universidad de Concepción, Facultad de Ciencias Biológicas, Departamento de Biología Celular y Molecular, 2015)
El origen de los vertebrados se define por la evolución del esqueleto mineralizado. Este evento involucró la expansión, y el reclutamiento de genes de colágenos fibrilares en el programa osteogénico. En vertebrados, la ...
A novel COL1A1 gene-splicing mutation (c. 1875+1G > C) in a Brazilian patient with osteogenesis imperfecta
(FUNPEC-EDITORA, 2009)
Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity, recurrent fractures, blue sclera, short stature, and dentinogenesis imperfecta. Most cases are caused by mutations ...
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
(ELSEVIER SCIENCE BV, 2008)
We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial ...
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
(LIPPINCOTT WILLIAMS & WILKINS, 2008)