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Egyptian Journal of Medical Human Genetics

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The EJMHG is a peer reviewed journal that publishes articles in English reporting original investigations in the field of human and medical Genetics.

The scope of the journal includes genetic basis of human disease such as clinical genetics and dysmorphology, cytogenetics, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders.

The scope of the journal also includes biochemical genetics with an emphasis on biological studies of enzymes and other protein deficiencies and immunogenetics. In addition, the journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.

The journal is published by the Egyptian Society of Human Genetics, Medical Genetics Center, Ain Shams University. It will consider reviews, review articles, original articles, case reports, announcements, editorials, editorial comments, correspondence, issue highlights, surveys and product reviews.

© 2017 Ain Shams University. Production and hosting by Elsevier B.V. All rights reserved.

Notice

No responsibility is assumed by Egyptian Society of Human Genetics or Elsevier for any injury and/or damage to persons, property as a matter of products liability, negligence, or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.

Although all advertising material is expected to conform to ethical (medical) standards, inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer.

Covered in the abstract and citation database Scopus®. Full text available on ScienceDirect®. 

Abstracts and journal information can be found at http://www.ejmhg.eg.net


Vol 19, No 4 (2018)

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Table of Contents

Articles

MTHFR C677T polymorphism and risk of esophageal cancer: An updated meta-analysis EMAIL FREE FULL TEXT
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Pradeep Kumar, Vandana Rai 273-284
Pathophysiology of bleeding diathesis in haemophilia-A: A sequential and critical appraisal of non-FVIII related haemostatic dysfunctions and their therapeutic implications EMAIL FREE FULL TEXT
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Umma A. Ibrahim, Sagir G. Ahmed 285-295
Helicobacter pylori Western cagA genotype in Egyptian patients with upper gastrointestinal disease EMAIL FREE FULL TEXT
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Manal Diab, Mohamed Shemis, Doaa Gamal, Ahmed El-Shenawy, Maged El-Ghannam, Effat El-Sherbini, Mohamed Saber 297-300
Fuzzy system model for gene expression EMAIL FREE FULL TEXT
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Amit Sharma, Neeru Adlakha 301-306
Angiotensin-converting enzyme (ACE) I/D and bradykinin B2 receptor T/C genes polymorphism in patients with ACE inhibitors-related cough EMAIL FREE FULL TEXT
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Mohammad Saifur Rohman, Jonny Karunia Fajar, Bagus Hery Kuncahyo, Lowry Yunita, Erdo Puncak Sidarta, Putu Nina Belinda Saka, Teuku Heriansyah, Nashi Widodo 307-313
Study of DNA methyl transferase 3A mutation in acute myeloid leukemic patients EMAIL FREE FULL TEXT
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Ghada M. Elsayed, Abd Elgawad A. Fahmi, Nevine F. Shafik, Reham A.A. Elshimy, Heba K. Abd Elhakeem, Sara A. Attea 315-319
Left ventricle myocardial performance in Down Syndrome children with clinically and anatomically normal hearts: Relationship to oxidative stress EMAIL FREE FULL TEXT
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Omneya Ibrahim Youssef, Soha Youssef Raouf 321-324
Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study EMAIL FREE FULL TEXT
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Hanan Al-Wakeel, Nadia Sewelam, Mohamed Khaled, Akram Abdelbary 325-331
Pathogenic predictions of non-synonymous variants and their impacts: A computational assessment of ARHGEF6 gene EMAIL FREE FULL TEXT
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Yashvant M. Khimsuriya, Jenabhai B. Chauhan 333-344
FLT3 receptor/CD135 expression by flow cytometry in acute myeloid leukemia: Relation to FLT3 gene mutations and mRNA transcripts EMAIL FREE FULL TEXT
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Mohamed Amin Mekawy, Deena Samir Eissa, Mohamed Tarif Hamza, Gehan Mostafa Hamed, Mariam Karam Youssef 345-351
Evaluation of health-related quality of life and muscular strength in children with beta thalassemia major EMAIL FREE FULL TEXT
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Dina K. Ismail, Mona H. El-Tagui, Zeinab A. Hussein, Mohamed A. Eid, Sobhy M. Aly 353-357
Study of congenital malformations in infants and children in Menoufia governorate, Egypt EMAIL FREE FULL TEXT
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Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. Elbadawi 359-365
In silico analysis of the functional non-synonymous single nucleotide polymorphisms in the human CYP27B1 gene EMAIL FREE FULL TEXT
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Solomon O. Rotimi, Olamide Peter, Oluwayomi Oguntade, Oluwakemi A. Rotimi 367-378
Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients EMAIL FREE FULL TEXT
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Noha S. Kandil, Rania Mohamed El Sharkawy, Lubna Mohamed Ibrahim Desouky, Lamia Said Kandil, I.M. Masoud, Noha Gaber Amin 379-383
Study of the role of IL-17F gene polymorphism in the development of immune thrombocytopenia among the Egyptian children EMAIL FREE FULL TEXT
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Shahira K.A. Botros, Ola M. Ibrahim, Alaa A. Gad 385-389
Metadherin mRNA expression in hepatocellular carcinoma EMAIL FREE FULL TEXT
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Nevein M. Al-sheikh, Sally M. El-Hefnway, Ahmed M. Abuamer, Ashraf G. Dala 391-397
The cephalofacial characterization in humans: The study using igbo tribe in Nigeria EMAIL FREE FULL TEXT
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Obaje Godwin Sunday, Uzomba Godwin Chinedu 399-402
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 EMAIL FREE FULL TEXT
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Abdollah Gravand, Ali Mohammad Foroughmand, Mehdi Pourmehdi Boroujeni 403-407
New insights into smudge cell percentage in chronic lymphocytic Leukemia: A novel prognostic indicator of disease burden EMAIL FREE FULL TEXT
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Amal Abd El Hamid Mohamed, Nesma Ahmed Safwat 409-415
Detection of antimicrobial resistance genes of Helicobacter pylori strains to clarithromycin, metronidazole, amoxicillin and tetracycline among Egyptian patients EMAIL FREE FULL TEXT
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Manal Diab, Ahmed El-Shenawy, Maged El-Ghannam, Dalia Salem, Moustafa Abdelnasser, Mohamed Shaheen, Mahmoud Abdel-Hady, Effat El-Sherbini, Mohamed Saber 417-423
Genetic study of the NOTCH3 gene in CADASIL patients EMAIL FREE FULL TEXT
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Seyedeh Parisa Chavoshi Tarzjani, Seyed Abolhassan Shahzadeh Fazeli, Mohammad Hossein Sanati, Zahra Mirzayee 425-427
Cantu syndrome in an Egyptian child EMAIL FREE FULL TEXT
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Rabah M. Shawky, Radwa Gamal 429-432
Asymptomatic hemochromatosis case with HFE c.1007-47G>A, c.340+4T>C heterozygous mutations and alpha globin -3.7 kb deletion EMAIL FREE FULL TEXT
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Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardıçoğlu Akışin, Fatma Ajlan Tükün, Nejat Akar 433-435
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 EMAIL FREE FULL TEXT
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Fatma Silan, Romyla Bourouba, Taner Karakaya, Onur Yildiz, Baris Paksoy, Mine Urfali, Ozturk Ozdemir 437-441
Removal notice to ‘‘An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings” [Egypt J Med Hum Genet 18 (2017) 393–396] EMAIL FREE FULL TEXT
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Solaf M. Elsayed, Radwa Gamal 443


ISSN: 1110-8630
AJOL African Journals Online