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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 2 (2018)

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Table of Contents

Articles

Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis EMAIL FREE FULL TEXT
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Vandana Rai, Pradeep Kumar 53-58
The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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? EMAIL FREE FULL TEXT
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Mervat Gamal Eldin Mansour, Sherin Albendary 135-139
Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability EMAIL FREE FULL TEXT
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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 EMAIL FREE FULL TEXT
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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? EMAIL FREE FULL TEXT
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Solaf Elsayed 151-152


ISSN: 1110-8630
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