High Resolution Banding
Mostrando 1-12 de 46 artigos, teses e dissertações.
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1. CRITICAL ANALYSIS OF SURGICAL TREATMENT TECHNIQUES OF MORBID OBESITY
RESUMO Introdução: A obesidade é afecção de alta prevalência no Brasil e no mundo e a cirurgia bariátrica, com suas diferentes técnicas, é alternativa para o tratamento. Objetivo: Comparar as técnicas da banda gástrica ajustável (BGA), gastrectomia vertical (GV), gastroplastia com derivação em Y-de-Roux (GDYR) e derivação biliopancreátic
ABCD, arq. bras. cir. dig.. Publicado em: 21/10/2019
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2. Urinary Glycosaminoglycan Electrophoresis With Optimized Keratan Sulfate Separation Using Peltier System for the Screening of Mucopolysaccharidoses
Abstract The purpose of this communication is to indicate a simple and rapid method with a small volume of urine sample to detect urine glycosaminoglycan (GAG) and serve as a screening procedure for mucopolysaccharidoses (MPSs). Total GAG measurement for patients with MPS disorders is considered to be the first step in diagnosis of those heterogeneous group
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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3. Refinamento citogenético em indivíduos com anomalias craniofaciais sindômicas sem diagnóstico definido / Cytogenetic refinement in individuals with syndromic craniofacial anomalies with unkown diagnoses
Objetivos: Investigar possíveis alterações citogenéticas, através da técnica de bandamento de alta resolução, em indivíduos com anomalias craniofaciais associadas ao atraso no desenvolvimento neuropsicomotor e sem diagnóstico clínico-genético definido, com cariótipo (com bandas) prévio normal e estabelecer possível correlação entre o fenóti
Publicado em: 2010
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4. Hemizygous interstitial deletion of chromosome 15 (band D) in three translocation-negative murine plasmacytomas.
Three murine plasmacytomas that were exceptional in lacking the characteristic (12;15) or (6;15) translocations were studied by G banding and high-resolution banding. One of every two chromosomes 15 (two of four in tetraploid tumors) was shortened in all three tumors. High-resolution banding analysis revealed that this was due to an interstitial deletion in
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5. The DNA-Based Structure of Human Chromosome 5 in Interphase
In contrast to those of metaphase chromosomes, the shape, length, and architecture of human interphase chromosomes are not well understood. This is mainly due to technical problems in the visualization of interphase chromosomes in total and of their substructures. We analyzed the structure of chromosomes in interphase nuclei through use of high-resolution mu
The American Society of Human Genetics.
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6. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and sho
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7. Two cases of ring chromosome 11.
Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding de
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8. High-resolution analysis of DNA replication domain organization across an R/G-band boundary.
Establishing how mammalian chromosome replication is regulated and how groups of replication origins are organized into replication bands will significantly increase our understanding of chromosome organization. Replication time bands in mammalian chromosomes show overall congruency with structural R- and G-banding patterns as revealed by different chromosom
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9. Interstitial deletion 2q24.3: case report with high resolution banding.
Interstitial deletions of the long arm of chromosome 2, involving band 2q24, have been described on three occasions. We report our findings in a further case, in which we mapped the deletion to band 2q24.3.
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10. Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.
We report on a familial three way translocation involving chromosomes 3, 6, and 15 identified by prometaphase banding and fluorescence in situ hybridisation (FISH). Two mentally retarded sibs with different phenotypic abnormalities, their phenotypically normal sister and mother, and two fetuses of the phenotypically normal sister were analysed. The terminal
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11. High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization.
The method of in situ hybridization has become a significant technique for specific-site chromosome mapping. We show that the resolution of in situ hybridization can be increased by hybridizing the probe to stretched prometaphase chromosomes with high-resolution banding obtained after 5-bromodeoxyuridine treatment of the cells and with a Hoechst 33258/Giemsa
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12. De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).
A profoundly retarded, slightly dysmorphic male was re-examined cytogenetically by high resolution GTG banding and found to have a de novo interstitial direct duplication of 15q.