Egyptian Journal of Medical Human Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

FLT3 receptor/CD135 expression by flow cytometry in acute myeloid leukemia: Relation to FLT3 gene mutations and mRNA transcripts
Conclusion Evaluation of FLT3 receptor/CD135 expression by flow cytometry at diagnosis of AML could constitute a predictor for the FLT3-ITD mutational status and FLT3 transcript level. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - May 4, 2018 Category: Genetics & Stem Cells Source Type: research

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
Conclusion Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - April 11, 2018 Category: Genetics & Stem Cells Source Type: research

In silico analysis of the functional non-synonymous single nucleotide polymorphisms in the human CYP27B1 gene
Conclusion These nsSNPs could contribute to vitamin D deficiency and its associated pathological conditions. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 17, 2018 Category: Genetics & Stem Cells Source Type: research

A study on the association of TCF7L2 rs11196205 (C/G) and CAPN10 rs3792267 (G/A) polymorphisms with type 2 diabetes mellitus in the South Western of Iran
Conclusion Our results showed that TCF7L2 rs11196205 and CAPN10 rs3792267 (SNP- 43) polymorphisms are not associated with the risk of T2DM in the studied population. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 17, 2018 Category: Genetics & Stem Cells Source Type: research

R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration
Conclusion The present study showed no evidence of association between C3 R102G polymorphism and nAMD in Malaysian subjects. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 17, 2018 Category: Genetics & Stem Cells Source Type: research

TEMPORARY REMOVAL: An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings
Publication date: October 2017 Source:Egyptian Journal of Medical Human Genetics, Volume 18, Issue 4 Author(s): Solaf M. Elsayed, Radwa Gamal The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 14, 2018 Category: Genetics & Stem Cells Source Type: research

Cardiomyopathy in Vici syndrome
Publication date: January 2018 Source:Egyptian Journal of Medical Human Genetics, Volume 19, Issue 1 Author(s): Solaf M. Elsayed, Radwa Gamal (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Association of genetic polymorphisms of PON1 and CETP with the presence of metabolic syndrome; the effects of genotypes on their serum activity and concentrations
Conclusions There were no associations between the PON1 polymorphisms, or haplotypes with MetS. There was an association between CETPrs5882 and metabolic syndrome. AA genotype of CETPrs5882 appeared to be protective against MetS in our studied population. There were no association between the PON1 and CETP polymorphisms with PON1enzymatic activities and CETP protein levels at base line and after curcumin supplementation. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Association assessment of Interleukine-10 gene polymorphism and its expression status with susceptibility to coronary artery disease in Iran
Conclusions Our results suggest that IL-10 gene promoter polymorphisms may influence both coronary artery disease risks and severity in Iranian patients. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Association of toll-like receptor 2 polymorphisms with susceptibility to pulmonary tuberculosis in Sudanese
Conclusion Our study suggests that allele G of rs765641 on TLR2 gene might influence susceptibility to pulmonary tuberculosis in Sudanese. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Pathophysiology of bleeding diathesis in haemophilia-A: A sequential and critical appraisal of non-FVIII related haemostatic dysfunctions and their therapeutic implications
This articles is aimed at providing a composite and comprehensive review of the roles of non-FVIII haemostatic defects and their therapeutic implications in haemophilic bleeding diathesis, which will enable a holistic approach towards clinical management of the bleeding diathesis. This is necessary because FVIII therapy alone maybe insufficient in managing complicated haemophilic bleeding unless compounding non-FVIII-related haemostatic dysfunctions and comorbidities are identified, targeted and treated. This will necessitate appropriate use of non-FVIII therapeutic modalities, which may include anti-fibrinolytic agents, F...
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Association of nonalcoholic fatty liver disease grades with the plasma cell antigen-1 (PC-1) gene polymorphism
Conclusion Lipid profile indices are risk factors for the incidence of NAFLD. Triacylglycerol (TAG) level is the hall-mark in the NAFLD pathogenesis and in the predisposition of PC-1 gene polymorphism. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Cantu syndrome in an Egyptian child
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Study of serum copper and ceruloplasmin levels in Egyptian autistic children
Conclusion Serum copper level may have a role in the pathogenesis of autism. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research

Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt
Conclusion G-banded karyotyping is a useful tool with reasonable yield in evaluation of children with developmental delay and/or dysmorphic features, especially in countries with limited resources. (Source: Egyptian Journal of Medical Human Genetics)
Source: Egyptian Journal of Medical Human Genetics - March 9, 2018 Category: Genetics & Stem Cells Source Type: research