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Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01)
BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated ...
Emanuel Syndrome: first case reported in Mexico
(Universidad del Zulia, 2018)
Protein Energy-Malnutrition: Does the In Vitro Zinc Sulfate Supplementation Improve Chromosomal Damage Repair?
(Humana Press, 2014-09-28)
Protein-energy malnutrition (PEM) is originated by a cellular imbalance between nutrient/energy supply and body’s demand. Induction of genetic damage by PEM was reported. The purpose of this study was to determine the ...
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
(BioMed Central, 2015)
Abstract
Background
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element ...
Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
(Sociedad Médica de Santiago, 2011)
Allelic imbalance studies of chromosome 9 suggest major differences in chromosomal instability among nonmelanoma skin carcinomasEstudos de equilíbrio alélico do cromossomo 9 sugerem grandes diferenças na estabilidade cromossômica dos tumores dermatológicos de linhagem não-melanocítica
(Associação Paulista de Medicina - APM, 2004)
Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital Caracterización citogenético-molecular de enfermedades genéticas en el hospital base de Puerto Montt
(2011)
Background: Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to ...
Frequência de anomalias cromossômicas e análise de variações genômicas estruturais em indivíduos atendidos em um laboratório de citogenética em Cuiabá – MT
(Universidade Federal de Mato GrossoBrasilFaculdade de Medicina (FM)UFMT CUC - CuiabáPrograma de Pós-Graduação em Ciências da Saúde, 2018-03-29)
Changes in chromosomes are the cause of several disorders in humans and currently
represent, together with congenital anomalies of other origins, the second cause of
infant mortality in Brazil. Aneuploidy, a change in ...
De novo dup p/del q or dup q/del p rearranged chromosomes: Review of 104 cases of a distinct chromosomal mutation
(2013)
We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic ...
Genomic imbalances in esophageal squamous cell carcinoma identified by molecular cytogenetic techniques
(Sociedade Brasileira de Genética, 2014)