Vol. 19 No. 2 (2018) | Egyptian Journal of Medical Human Genetics

Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis

Vandana Rai, Pradeep Kumar

53-58

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The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology

Rafael Vincent M. Manalo, Paul Mark B. Medina

59-68

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Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy

A.S. Odiba, V.E. Ottah, O.O. Anunobi, C.Y. Ukegbu, R Uroko, C.U. Ottah, A.A. Edeke, K Omeje

69-75

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R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration

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

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Impact of migration on the expression of aggression and empathy in urban populations

Lubov Atramentova, Ekaterina Luchko, Olga Filiptsova

83-86

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Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients

Marwa H. Saied, Aya Samy Rady, Galal Mustafa Abo El Naga, Ola A. Sharaki

87-90

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XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population

Rouf Maqbool, Shajrul Amin, Sabhiya Majeed, Aaliya Bhat, Shayaq ul Abeer Rasool, Mudasar Nabi

91-95

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Correlation between cognitive function, gross motor skills and health – Related quality of life in children with Down syndrome

Saly Said Abd El-Hady, Faten Hassan Abd El-Azim, Hoda Abd El-Aziem Mohamed El-Talawy

97-101

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Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients

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

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The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein

Widodo Widodo, Anggia Noor Ramadhani, Anissa Nofitasari, Sapti Puspitarini, Didik Priyandoko, Mohammad Saifur Rohman, Mifetika Lukitasari

107-112

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Study of serum copper and ceruloplasmin levels in Egyptian autistic children

Farida El-Baz, Mohamed E. Mowafy, Ahmed Lotfy

113-116

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Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study

Muhi Kadhem Wannas Al-Janabi, Saad Hasan Mohammed Ali, Nadia Aziz Nasir, Muhammed Wehby

117-121

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Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults

Olusegun E. Ogundele, Khalid O. Adekoya, Abraham A.A. Osinubi, Awoyemi A. Awofala, Bola O. Oboh

123-127

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Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes

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

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Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track?

Mervat Gamal Eldin Mansour, Sherin Albendary

135-139

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Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin

141-145

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First report of microcephaly-capillary malformations syndrome in Russia

Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova

147-150

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Letter to the Editor: Are we missing fucosidosis?

Solaf Elsayed

151-152

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Egyptian Journal of Medical Human Genetics
Journal / Egyptian Journal of Medical Human Genetics / Vol. 19 No. 2 (2018) / Articles

Articles

Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis

The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology

Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy

R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration

Impact of migration on the expression of aggression and empathy in urban populations

Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients

XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population

Correlation between cognitive function, gross motor skills and health – Related quality of life in children with Down syndrome

Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients

The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein

Study of serum copper and ceruloplasmin levels in Egyptian autistic children

Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study

Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults

Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes

Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track?

Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

First report of microcephaly-capillary malformations syndrome in Russia

Letter to the Editor: Are we missing fucosidosis?

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