Vol. 17 No. 1 (2016) | Egyptian Journal of Medical Human Genetics

J. Torabizade maatoghi, M. Paridar, M. Mahmodian Shoushtari, B. Kiani, B. Nori, M. Shahjahani, A. Khosravi, N. Amani kelarijani, O. Kiani ghalesardi, M.A. Jalali Far

105-109

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Susceptibility to methamphetamine dependence associated with high transcriptional activity alleles of VNTR polymorphism in the promoter region of monoamine oxidase A (MAOA)

Khyber Saify, Mostafa Saadat

111-114

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Exploring the link between VDR rs2228570 and uterine leiomyoma in Iranian women

Shirin Shahbazi

115-118

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Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad

119-123

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Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

J.A. Avina Fierro, D.A. Hernandez Avina

125-129

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Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach

Mohamad-Reza Aghanoori, Ghazaleh Mohammadzadeh Shahriary, Mahdi Safarpour, Ahmad Ebrahimi

131-136

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Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

Tahir M. Malla, Arshad A. Pandith, Fayaz A. Dar, Mahrukh H. Zargar

137-140

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Egyptian Journal of Medical Human Genetics
Journal / Egyptian Journal of Medical Human Genetics / Vol. 17 No. 1 (2016) / Articles

Articles

Pathogenetics. An introductory review

Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India

Association of 308G/A TNF-α gene polymorphism and spontaneous preterm birth in Acehnese ethnic group, Indonesia: This polymorphism is not associated with preterm birth

Cyclooxygenase 1 (COX1) expression in Type 2 diabetes mellitus: A preliminary study from north India

Pilot study for early prognosis of Azoospermia in relation to Y-STR Profiling

Chromosomal abnormalities and autism

Magnesium supplementation in children with attention deficit hyperactivity disorder

α-4 subunit of nicotinic acetylcholine receptor polymorphisms exhibit no association with smoking behavior among Malay Males in Kelantan, Malaysia

Circulating cell free DNA as a predictor of systemic lupus erythematosus severity and monitoring of therapy

Do the MTHFR gene polymorphism and Down syndrome pregnancy association stands true? A case–control study of Indian population and meta-analysis

Apolipoprotein E gene polymorphism in Egyptian acute coronary syndrome patients

Distribution of ABO blood groups and rhesus factor in a Large Scale Study of different cities and ethnicities in Khuzestan province, Iran

Susceptibility to methamphetamine dependence associated with high transcriptional activity alleles of VNTR polymorphism in the promoter region of monoamine oxidase A (MAOA)

Exploring the link between VDR rs2228570 and uterine leiomyoma in Iranian women

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir