genetic abnormalities
Cytogenetics of Leukemias: Identifying Genetic Abnormalities with Clinical and Prognostic Significance
... chromosomal abnormalities have been identified associated to leukemia and the strong association between Philadelphia chromosome and CML is considered an exception to the ...
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Genetic abnormalities in paediatric glial tumours
... T um our suppressor genes have a negative grow th regulatory fu n ctio n . They act recessively as both copies of the gene need to be in activ ated (Raffel, 1996). The first tu m o u r suppressor gene to be characterised ...
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Original Article Clinicopathological and molecular genetic abnormalities associated with the prognosis of angioimmunoblastic T-cell lymphoma
... detect abnormalities in the BCL-2/ IgH, BCL-6, and C-MYC genes in tissue speci- mens of 10 patients with AITL to study their molecular genetic features and thereby under- stand its pathogenesis and find ...
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The use of genetic markers to improve sow productive life and genetic abnormalities
... It has been shown that gilts bred at the optimal time point of 221-240 days of age typically are more productive in regards to both number of parities and size of litters when compared to gilts that don’t reach puberty ...
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Psychiatric Disorders in Adolescents With Single Ventricle Congenital Heart Disease
... without genetic abnormalities and the referent group used linear regression for continuous variables and logistic regression for binary demographic variables with group as a categorical predictor and IQ ...
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Adult hypophosphatasia with compound heterozygous p Phe327Leu missense and c 1559delT frameshift mutations in tissue nonspecific alkaline phosphatase gene: a case report
... These genetic abnormalities were previously reported in perinatal, infantile, and childhood but not adult ...and genetic analyses, the patient was definitively diagnosed with adult ...
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A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
... the genetic abnormalities in the foetus were derived from a balanced translocation of ...screening genetic abnormalities derived from parents with balanced translocations in the first ...
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Concepts in Understanding Oral Field Cancerization: A Brief Review
... multiple genetic abnormalities in the whole tissue region; owing to prolonged exposures of susceptible carcinogens as a result of tobacco or alcohol ...tissue abnormalities in OFC have been ...
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A New and Integral Approach to the Etiopathogenesis and Treatment of Breast Cancer based upon its Hydrogen Ion Dynamics
... the genetic abnormalities behind BC metastasis ...Other genetic mutations, like BRCA1 and BRCA2, are known to be strongly associated with familial breast and ovarian cancers ...two genetic ...
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Correlation of Unilateral Sporadic Vestibular Schwannoma Growth Rates with Genetic and Immunohistochemical Abnormalities
... Background: Unilateral sporadic vestibular schwannomas (USVS) are caused by inactivating somatic mutations of both alleles of the neurofibromatosis 2 (NF2) tumor suppressor gene. Unilateral sporadic vestibular ...
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Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?
... Aim: Factor V Leiden (R506Q) mutation is the most commonly observed inherited genetic abnormality related to vein thrombosis. Lebanon has one of the highest frequencies of this mutation in the world with a ...
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HFE genotype modifies the influence of heme iron intake on iron status
... overload. 1 One Australian survey has shown serum ferritin to be related to meat intake in a healthy population, 2 but to date no genetic studies have considered the influence of dietary iron intake in relation to ...
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Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families
... Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an ...
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Human neutrophil cytochrome b light chain (p22 phox) Gene structure, chromosomal location, and mutations in cytochrome negative autosomal recessive chronic granulomatous disease
... A membrane-bound cytochrome b, a heterodimer formed by a 91-kD glycoprotein (heavy chain) and a 22-kD polypeptide (light chain), is an essential component of the phagocyte NADPH-oxidase responsible for superoxide ...
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A Morphological Study of Acute Myeloid Leukemia and Correlation With Clinical and Laboratory Findings, Including Results of Cytogenetic Analysis and Mutation Screening
... Pre-treatment karyotype is considered as the most important prognostic factor in AML (35). Several clinical trial groups proposed different risk group stratification schemes based on the cytogenetic and molecular ...
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GENETIC ASPECTS OF INFERTILITY IN MEN WITH AZOSPERMIA OR OLIGOSPERMIA
... karyotypic abnormalities that have been identified include Robertsonian translocations, chromosomal inversions, and non-Klinefelter sex chromosome abnormalities ...chromosomal abnormalities, finding ...
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Differential Analysis of Genetic, Epigenetic, and Cytogenetic Abnormalities in AML
... of genetic events contributing to AML pathogen- esis ...by genetic, epigenetic, and cytogenetic ...of genetic, epigenetic, and cytogenetic data and differential analysis are ...with genetic and ...
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Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer
... To examine the repertoire of genomic aberrations in tumor tissues, biopsies are often performed. However, tissue biopsy in advanced prostate cancer is challenging because bone metastasis are predominant. Many patients do ...
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Molecular cytogenetic analysis of chromosome abnormalities in early human embryos and the development of preimplantation genetic diagnosis
... chromosome abnormalities, from a research viewpoint it would have been preferable to use flanking probes which mapped closer to the translocation breakpoint allowing normal and derivative chromosomes to be ...
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Genetic defects in human azoospermia
... After the description of the Klinefelter syndrome karyo- type (in 1959) and various chromosome rearrangements, it was several decades before the emergence of new gen- omic techniques initiated a new age for molecular ...
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