The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Autor: Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil

Publikováno v: Human Genetics

In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7400f1ed91704112fd5669cc5c9c8
https://pubmed.ncbi.nlm.nih.gov/28600779

Optic gliomas: A retrospective analysis of 50 cases

Autor: Derek Jenkin, A. Kofide, Imaduddin Kanaan, Maher Hassounah, Yasser Khafaga, Gamal El Husseiny, Alaa Kandil, Mohammed Al Shabanah, Ayman Allam, Abdulaziz Belal, Henrik Schultz

Publikováno v: International Journal of Radiation Oncology*Biology*Physics. 56:807-812

Gliomas of the optic pathways are rare childhood central nervous system tumors. The treatment approach is controversial because of its rarity and the slow and unpredictable growth rates of these lesions.We reviewed 50 patients with the diagnosis of o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb6c411988b1a1843f652a54034d311
https://doi.org/10.1016/s0360-3016(02)04512-1

ACTH-Secreting Pituitary Tumor: Evolution of an Adenoma to Carcinoma

Autor: M Ahmed, Hindi Al-Hindi, Imaduddin Kanaan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::394e843fb4a4ba9231c0c06600b8871e
https://doi.org/10.1210/endo-meetings.2010.part2.p7.p2-328

Granular cell meningioma. A case report

Autor: Bolesław, Lach, Imaduddin, Kanaan

Publikováno v: Folia neuropathologica. 45(1)

We describe a granular cell tumour developing in clear cell meningioma of the falx. Granular and clear cells showed immunoreactivity for vimentin, epithelial membrane antigen and progesterone receptors. This is the first case documenting arachnoid or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::377790168ff380697834264c532fa6ab
https://pubmed.ncbi.nlm.nih.gov/17357006

Severe hypertension secondary to renal artery stenosis and Cushing's syndrome

Autor: Ali S, Alzahrani, Alya, Al-Hajjaj, Jehad, Al-Watban, Imaduddin, Kanaan

Publikováno v: Saudi medical journal. 26(4)

We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushing's syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushing's syndrome and the possible interaction between Cushing's syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0a1d135bbab6188e5400212d6fb8fed4
https://pubmed.ncbi.nlm.nih.gov/15900383