Vol. 15 No. 2 (2014) | Egyptian Journal of Medical Human Genetics

Reduced penetrance in human inherited disease

RM Shawky

103-111

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Prevalence of thrombophilic gene polymorphisms (FVL G1691A and MTHFR C677T) in patients with myocardial infarction

H Ezzat, FA Attia, A Mokhtar, HM El-Tokhy, MN Alalfy, NY Elkhouly

113-123

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The promoter region (G-800A and C-509T) polymorphisms of transforming growth factor-β1 gene among young women with recurrent urinary tract infection

M Syukri, M Sja’bani, MHNE Soesatyo, I Astuti, I Imran, H Harapan

125-130

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Leptin, insulin like growth factor-1 and thyroid profile in a studied sample of Egyptian children with Down syndrome

HH El Gebali, EA Zaky, SH Agwa, EZ Mohamed

131-138

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Effect of resistance and aerobic exercises on bone mineral density, muscle strength and functional ability in children with hemophilia

MA Eid, MM Ibrahim, SM Aly

139-147

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Health related quality of life and psychological problems in Egyptian children with simple obesity in relation to body mass index

EA Abdel-Aziz, RT Hamza, AM Youssef, FM Mohammed

149-154

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Study the effect of hyperbaric oxygen therapy in Egyptian autistic children: A clinical trial

F El-baz, RM Elhossiny, YA Azeem, M Girgis

155-162

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Andrographia paniculata a Miracle Herbs for cancer treatment: In vivo and in vitro studies against Aflatoxin B1 Toxicity

S Ahmad, S Ahmad, M Arshad, M Afzal

163-171

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Effect of whole-body vibration on muscle strength, spasticity, and motor performance in spastic diplegic cerebral palsy children

MM Ibrahim, MA Eid, SA Moawd

173-179

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Study of plasma amino acid levels in children with autism: An Egyptian sample

FM ElBaz, MM Zaki, AM Youssef, GF ElDorry, DY Elalfy

181-186

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Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

OK Zaki, HS Elabd, SG Ragheb, DA Ghoraba, AE Elghawaby

187-192

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The response of skin hardness and pain sensation to ultrasonic treatment in lipodermatosclerosis patients

SA Hamid, ZM Ibrahim Ali, HM Mohamady

193-198

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Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

RM Shawky, N Amr, H Salah, S Gad

199-202

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Case Report: Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

MJ Marafie, F Al-Mulla

203-207

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Editorial: The blessing effect of an extra copy of chromosome 21

SM Elsayed

209-210

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Educational Corner: Basic concepts of medical genetics: Formal genetics, Part 2

MSZ Salem

211-217

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Egyptian Journal of Medical Human Genetics
Journal / Egyptian Journal of Medical Human Genetics / Vol. 15 No. 2 (2014) / Articles

Articles

Reduced penetrance in human inherited disease

Prevalence of thrombophilic gene polymorphisms (FVL G1691A and MTHFR C677T) in patients with myocardial infarction

The promoter region (G-800A and C-509T) polymorphisms of transforming growth factor-β1 gene among young women with recurrent urinary tract infection

Leptin, insulin like growth factor-1 and thyroid profile in a studied sample of Egyptian children with Down syndrome

Effect of resistance and aerobic exercises on bone mineral density, muscle strength and functional ability in children with hemophilia

Health related quality of life and psychological problems in Egyptian children with simple obesity in relation to body mass index

Study the effect of hyperbaric oxygen therapy in Egyptian autistic children: A clinical trial

Andrographia paniculata a Miracle Herbs for cancer treatment: In vivo and in vitro studies against Aflatoxin B1 Toxicity

Effect of whole-body vibration on muscle strength, spasticity, and motor performance in spastic diplegic cerebral palsy children

Study of plasma amino acid levels in children with autism: An Egyptian sample

Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

The response of skin hardness and pain sensation to ultrasonic treatment in lipodermatosclerosis patients

Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Case Report: Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

Editorial: The blessing effect of an extra copy of chromosome 21

Educational Corner: Basic concepts of medical genetics: Formal genetics, Part 2

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