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.
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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 2 (2018)
Open Access
Subscription or Fee Access
Table of Contents
Articles
| Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis |
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| Vandana Rai, Pradeep Kumar | 53-58 |
| The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology |
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| Rafael Vincent M. Manalo, Paul Mark B. Medina | 59-68 |
| Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy |
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| A.S. Odiba, V.E. Ottah, O.O. Anunobi, C.Y. Ukegbu, R Uroko, C.U. Ottah, A.A. Edeke, K Omeje | 69-75 |
| R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration |
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| Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman | 77-81 |
| Impact of migration on the expression of aggression and empathy in urban populations |
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| Lubov Atramentova, Ekaterina Luchko, Olga Filiptsova | 83-86 |
| Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients |
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| Marwa H. Saied, Aya Samy Rady, Galal Mustafa Abo El Naga, Ola A. Sharaki | 87-90 |
| XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population |
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| Rouf Maqbool, Shajrul Amin, Sabhiya Majeed, Aaliya Bhat, Shayaq ul Abeer Rasool, Mudasar Nabi | 91-95 |
| Correlation between cognitive function, gross motor skills and health – Related quality of life in children with Down syndrome |
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| Saly Said Abd El-Hady, Faten Hassan Abd El-Azim, Hoda Abd El-Aziem Mohamed El-Talawy | 97-101 |
| Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients |
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| G.M. Mokhtar, M.S. El Alfy, F.S.E. Ebeid, M.A. El Sawi, M.H. Fayek, A.A.M. Adly, Asama Zaki | 103-106 |
| The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein |
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| Widodo Widodo, Anggia Noor Ramadhani, Anissa Nofitasari, Sapti Puspitarini, Didik Priyandoko, Mohammad Saifur Rohman, Mifetika Lukitasari | 107-112 |
| Study of serum copper and ceruloplasmin levels in Egyptian autistic children |
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| Farida El-Baz, Mohamed E. Mowafy, Ahmed Lotfy | 113-116 |
| Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study |
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| Muhi Kadhem Wannas Al-Janabi, Saad Hasan Mohammed Ali, Nadia Aziz Nasir, Muhammed Wehby | 117-121 |
| Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults |
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| Olusegun E. Ogundele, Khalid O. Adekoya, Abraham A.A. Osinubi, Awoyemi A. Awofala, Bola O. Oboh | 123-127 |
| Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes |
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| Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alexander S. Graphodatsky, Ekaterina M. Galanina, Dmitry V. Yudkin | 129-134 |
| Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track? |
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| Mervat Gamal Eldin Mansour, Sherin Albendary | 135-139 |
| Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability |
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| Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin | 141-145 |
| First report of microcephaly-capillary malformations syndrome in Russia |
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| Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova | 147-150 |
| Letter to the Editor: Are we missing fucosidosis? |
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| Solaf Elsayed | 151-152 |
ISSN: 1110-8630
