Chromosome Variability
Mostrando 1-12 de 204 artigos, teses e dissertações.
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1. Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
Resumo A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quoc
Estud. psicol. (Campinas). Publicado em: 11/11/2019
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2. Comparative cytogenetic analysis in Erythrolamprus snakes (Serpentes: Dipsadidae) from Argentina
ABSTRACT We described the karyotypes of five snake taxa from Argentina: Erythrolamprus almadensis, E. ceii, E. poecilogyrus caesius, E. p. schotti and E. p. sublineatus, and also intergrading individuals between the last two subspecies by conventional staining, chromosome bandings and fluorescent in situ hybridization (FISH) with 28S ribosomal DNA probes. Er
An. Acad. Bras. Ciênc.. Publicado em: 2018-04
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3. Cytogenetic characterization of Tropaeolum pentaphyllum Lam
Abstract The species Tropaeolum pentaphyllum Lam. (batata-crem or crem) is of great economic and medicinal importance. For being an endangered species, the knowledge of its genetic variability is necessary. Considering the lack of cytological studies on this species, this work describes the chromosome numbers, the meiotic behavior, the meiotic index, and the
Crop Breed. Appl. Biotechnol.. Publicado em: 2018-03
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4. Karyotype analysis in Bignonieae (Bignoniaceae): chromosome numbers and heterochromatin
ABSTRACT Chromosome numbers and heterochromatin banding pattern variability have been shown to be useful for taxonomic and evolutionary studies of different plant taxa. Bignonieae is the largest tribe of Bignoniaceae, composed mostly by woody climber species whose taxonomies are quite complicated. We reviewed and added new data concerning chromosome numbers
An. Acad. Bras. Ciênc.. Publicado em: 11/12/2017
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5. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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6. Heterochromatin base pair composition and diversification in holocentric chromosomes of kissing bugs (Hemiptera, Reduviidae)
The subfamily Triatominae (Hemiptera, Reduviidae) includes 150 species of blood-sucking insects, vectors of Chagas disease or American trypanosomiasis. Karyotypic information reveals a striking stability in the number of autosomes. However, this group shows substantial variability in genome size, the amount and distribution of C-heterochromatin, and the chro
Mem. Inst. Oswaldo Cruz. Publicado em: 2016-10
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7. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noona
Genet. Mol. Biol.. Publicado em: 04/08/2016
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8. Interspecific hybrids between Paspalum plicatulum and P. oteroi: a key tool for forage breeding
ABSTRACT Grama-tio-pedro (Paspalum oteroi Swallen) is a rare stoloniferous grass of the Plicatula group of Paspalum, well adapted to continuous grazing in areas subject to seasonal flooding in the Pantanal region, in central western Brazil. The species is a facultative apomictic (asexual reproduction by seed) tetraploid, sporadically cultivated on Pantanal f
Sci. agric. (Piracicaba, Braz.). Publicado em: 2016-08
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9. Molecular epidemiology of heteroresistant vancomycin-intermediate Staphylococcus aureus in Brazil
ABSTRACTTo determine the epidemiological and molecular characteristics of 12 Staphylococcus aureus isolates presenting heteroresistance to vancomycin in laboratories of two cities in Santa Catarina, southern Brazil. Epidemiological data, including the city of isolation, health institution, and date of isolation were considered, as well as the associated clin
Braz J Infect Dis. Publicado em: 2015-10
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10. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromoso
Int. Arch. Otorhinolaryngol.. Publicado em: 2014-01
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11. Chromosome mapping of ribosomal genes and histone H4 in the genus Radacridium (Romaleidae)
In this study, two species of Romaleidae grasshoppers, Radacridium mariajoseae and R.nordestinum, were analyzed after CMA3/DA/DAPI sequential staining and fluorescence in situ hybridization (FISH) to determine the location of the 18S and 5S rDNA and histone H4 genes. Both species presented karyotypes composed of 2n = 23, X0 with exclusively acrocentric chrom
Genet. Mol. Biol.. Publicado em: 19/07/2013
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12. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes
In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae). The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one
Mem. Inst. Oswaldo Cruz. Publicado em: 2013-05