Egyptian Journal of Medical Human Genetics

Contents: May, 2009 (Volume 10, Number 1)

One gene, many phenotypes
Rabah M. Shawky
[Abstract]  [Full text]

Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients
Mona S. Aglan, Alice K. Abdel-Aleem, Ahmed IS. EL-Katoury, Mona H. Hafez, Sahar N. Saleem, Ghada A. Otaify and Samia A. Temtamy
[Abstract]  [Full text]

Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies
Rabah M. Shawky, Eman A. Zaky, Ezzat S. El-Sobky, Ahmad R. Ramy and Sherif Y. Omer
[Abstract]  [Full text]

A Study of the androgen receptor gene polymorphism and the level of expression of the androgen receptor in androgenetic alopecia among Egyptians
Heba SH. Kassem, Rehab M. Abou El Seoud, Adel SH. Aly, Hala A. Ibrahim and Mahmoud A. El Ramly
[Abstract]  [Full text]

Sister chromatid exchange in peripheral blood lymphocytes as a possible breast cancer risk biomarker: A study of Iranian patients with breast cancer
Kyumars Safinejad, Nejat Mahdieh Parvin Mahdipour, Leila Yadegar, Morteza Atri and Gholamreza Javadi
[Abstract]  [Full text]

EEG changes and neuroimaging abnormalities in relevance to severity of autism
Ahmed I. Kotoury, Ghada Y. El-Kamah, Samira I. Ibrahim and Engy A. Ashaat
[Abstract]  [Full text]

Detection of human telomerase reverse transcriptase messenger RNA in urine of high risk patients as a non invasive molecular diagnostic tool for urinary bladder cancer in Egyptians
Susan F. Helal1, Heba SH. Kassem1, Wael M. Sameh and Samar N. El- Achy
[Abstract]  [Full text]

Relationship between endothelial nitric oxide synthase gene polymorphisms and the risk of myocardial infarction in the Algerian population
Djabaria Meroufel1, Sounnia Médiène-Benchekor Julie Dumont Soraya
[Abstract]  [Full text]

Farber disease overlapping with stiff skin syndrome: Expanding the spectrum
Ghada Y. El-Kamah, Mohamad A. El-darouti, Ahmad IS. Kotoury and Mostafa I. Mostafa
[Abstract]  [Full text]

Triple A syndrome presenting with myopathy: An Egyptian patient
Rabah M. Shawky, Solaf M. Elsayed and Heba H. Elsedfy
[Abstract]  [Full text]

Abnormal presentation of Peters’ anomaly in a family with microcornea cataract syndrome
Rabah M. Shawky and Doaa I. Sadik
[Abstract]  [Full text]

Fronto-nasal dysplasia (Median cleft face syndrome)
Ayman M. ELKobrosly, Hatem A. Massoud and Adnan Elkishawy
[Abstract]  [Full text]