Significance of chromosome 9p status in renal cell carcinoma:a systematic review and quality of the reported studies [PDF]
, 2014 Defining the prognosis of renal cell carcinoma (RCC) using genetic tests is an evolving area. The prognostic significance of 9p status in RCC, although described in the literature, remains underutilised in clinical practice. The study explored the causes
El-Mokadem, Ismail +6 more
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A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience
Diagnostics, 2012 Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy.
Carmen Comas +5 more
doaj +1 more source
Functional and molecular effects of chromosome 21 trisomy
, 2010 Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
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ABNORMALITAS KROMOSOM YPADA PENDERITA AMBIGUS GENITALIA Y CHROMOSOME ABNORMALITY IN PATIENTS WITH AMBIGUOUS GENITALIA [PDF]
, 2008 Background. Ambiguous genitalia is an abnormality signing by the presence of atypical appearance of external genitalia as male or female, or appear as combination of both male and female appearance.
Wasilah , Siti
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A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Acquired abnormalities of chromosome 21 in acute lymphoblastic leukaemia
, 2008 The intrachromosomal amplification of chromosome 21 (iAMP21) was identifiedas a novel and prognositically important acquired chromosomal abnormality inchildhood acute lymphoblastic leukaemia (ALL).
Robinson, Hazel M., Robinson, Hazel M
core
The prevalence of the 47, XYY chromosome abnormality in selected human populations
, 1972 The purpose of this research was to examine four selected human population groups, institutionalized and normal, to determine the prevalence of the 47, XYY chromosome abnormality among adult males.Thesis (D. Ed.
Exley, Ethelyn Elaine, 1931-
core
Determination of Fetal Abnormalities in Pregnancies Leading to Legal Abortion in Golestan Province (2018-19) [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Background and Objective: In recent years, studies have been conducted to determine the prevalence rate of congenital abnormalities in different regions of Iran, most of which were conducted on live births.
Atena Mehrara +2 more
doaj
Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities
Advanced Science, EarlyView.ABSTRACT Glioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis. CIN is characterized by numerical and structural alterations, is driven by mechanisms such as mitotic ...
Amarnath Pal +3 more
wiley +1 more source