Vol. 18 No. 1 (2017) | Egyptian Journal of Medical Human Genetics

Non‐invasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and prospects

Cláudia Amorim Costa

1-7

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Null association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: An updated meta-analysis

Vandana Rai, Upendra Yadav, Pradeep Kumar

9-18

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The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis

Jonny Karunia Fajar

19-28

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Association between interleukin-4 (IL-4), gene polymorphisms (C-589T, T+2979G, and C-33T) and migraine susceptibility in Iranian population: A case–control study

Nourollah Ramroodi, Mohammad Reza Javan, Nima Sanadgol, Mehdi Jahantigh, Tooba Nakhzari Khodakheir, Nasrin Ranjbar

29-34

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Strength training versus chest physical therapy on pulmonary functions in children with Down syndrome

Zeinab Ahmed Hussein

35-39

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Genotypes of GSTM1 and GSTT1: Useful determinants for clinical outcome of bladder cancer in Pakistani population

Saima Shakil Malik, Gul Nawaz, Nosheen Masood

41-45

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Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt

Ashraf Abou-Taleb, Marwa A. Abdelhamid, Mohamed A.M. Bahkeet

47-51

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Role of TLR4 gene polymorphisms in the colorectal cancer risk modulation in ethnic Kashmiri population – A case–control study

Saniya Nissar, Aga Syed Sameer, Roohi Rasool, Qurteeba Qadri, Nissar A. Chowdri, Fouzia Rashid

53-59

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MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin

Ambreen Asim, Sarita Agarwal, Inusha Panigrahi

61-66

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Study of obesity associated proopiomelanocortin gene polymorphism: Relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents

Farida El-Baz Mohamed, Rasha T. Hamza, Nermine H. Amr, Azza M. Youssef, Tarek M. Kamal, Rana A. Mahmoud

67-73

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Parathyroid hormone in pediatric patients with β-thalassemia major and its relation to bone mineral density; a case control study

Mostafa El-Nashar, Ahmed Kamel Mortagy, Nagham M.S. El-Beblawy, Eman El-Gohary, Irene Mokhtar Kamel, Mona Rashad, Wessam A. Mouharam

75-78

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Risk factors for congenital anomalies in high risk pregnant women: A large study from South India

Tella Sunitha, Kattekola Rebekah Prasoona, Tiruvatturu Muni Kumari, Buragadda Srinadh, Madireddy Laxmi Naga Deepika, Ramaiah Aruna, Akka Jyothy

79-85

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Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Rabah M. Shawky, Radwa Gamal, Nayera Mostafa

87-92

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C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Rabah M. Shawky, Radwa Gamal

93-97

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Mitochondrial control region and GSTP1 polymorphism associated with familial urinary bladder cancer in Karbi-Anglong tribe of Assam, Northeast India

Souvik Ghatak, Ravi Prakash Yadav, Hanumath Singh Rathore, Keheibamding Thou, Felix Jakha, K. Toska Sumi, Zothan Sanga, Nachimuthu Senthil Kumar

99-104

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Egyptian Journal of Medical Human Genetics
Journal / Egyptian Journal of Medical Human Genetics / Vol. 18 No. 1 (2017) / Articles

Articles

Non‐invasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and prospects

Null association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: An updated meta-analysis

The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis

Association between interleukin-4 (IL-4), gene polymorphisms (C-589T, T+2979G, and C-33T) and migraine susceptibility in Iranian population: A case–control study

Strength training versus chest physical therapy on pulmonary functions in children with Down syndrome

Genotypes of GSTM1 and GSTT1: Useful determinants for clinical outcome of bladder cancer in Pakistani population

Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt

Role of TLR4 gene polymorphisms in the colorectal cancer risk modulation in ethnic Kashmiri population – A case–control study

MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin

Study of obesity associated proopiomelanocortin gene polymorphism: Relation to metabolic profile and eating habits in a sample of obese Egyptian children and adolescents

Parathyroid hormone in pediatric patients with β-thalassemia major and its relation to bone mineral density; a case control study

Risk factors for congenital anomalies in high risk pregnant women: A large study from South India

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Mitochondrial control region and GSTP1 polymorphism associated with familial urinary bladder cancer in Karbi-Anglong tribe of Assam, Northeast India