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)
Open Access
Subscription or Fee Access
Table of Contents
Articles
| MTHFR C677T polymorphism and risk of esophageal cancer: An updated meta-analysis |
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| Pradeep Kumar, Vandana Rai | 273-284 |
| Helicobacter pylori Western cagA genotype in Egyptian patients with upper gastrointestinal disease |
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| Manal Diab, Mohamed Shemis, Doaa Gamal, Ahmed El-Shenawy, Maged El-Ghannam, Effat El-Sherbini, Mohamed Saber | 297-300 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.06.003 | |
| Fuzzy system model for gene expression |
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| Amit Sharma, Neeru Adlakha | 301-306 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.06.002 | |
| Angiotensin-converting enzyme (ACE) I/D and bradykinin B2 receptor T/C genes polymorphism in patients with ACE inhibitors-related cough |
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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 |
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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 |
| 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 |
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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 |
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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 |
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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 |
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| Dina K. Ismail, Mona H. El-Tagui, Zeinab A. Hussein, Mohamed A. Eid, Sobhy M. Aly | 353-357 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.04.005 | |
| Study of congenital malformations in infants and children in Menoufia governorate, Egypt |
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| Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. Elbadawi | 359-365 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.04.002 | |
| In silico analysis of the functional non-synonymous single nucleotide polymorphisms in the human CYP27B1 gene |
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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 |
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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 |
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| Shahira K.A. Botros, Ola M. Ibrahim, Alaa A. Gad | 385-389 |
| Metadherin mRNA expression in hepatocellular carcinoma |
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| Nevein M. Al-sheikh, Sally M. El-Hefnway, Ahmed M. Abuamer, Ashraf G. Dala | 391-397 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.02.002 | |
| The cephalofacial characterization in humans: The study using igbo tribe in Nigeria |
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| Obaje Godwin Sunday, Uzomba Godwin Chinedu | 399-402 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.02.001 | |
| 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 |
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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 |
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| Amal Abd El Hamid Mohamed, Nesma Ahmed Safwat | 409-415 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.01.006 | |
| Detection of antimicrobial resistance genes of Helicobacter pylori strains to clarithromycin, metronidazole, amoxicillin and tetracycline among Egyptian patients |
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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 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.01.004 | |
| Genetic study of the NOTCH3 gene in CADASIL patients |
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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 |
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| Rabah M. Shawky, Radwa Gamal | 429-432 |
| http://dx.doi.org/10.1016/j.ejmhg.2018.01.005 | |
| Asymptomatic hemochromatosis case with HFE c.1007-47G>A, c.340+4T>C heterozygous mutations and alpha globin -3.7 kb deletion |
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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 |
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| Fatma Silan, Romyla Bourouba, Taner Karakaya, Onur Yildiz, Baris Paksoy, Mine Urfali, Ozturk Ozdemir | 437-441 |
ISSN: 1110-8630
