Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Autor: Amal Jabr, Abbas Hawwari, Moheeb Al-Awwami, Tanziel Elamin, Khawar Siddiqui, Lina El-Baik, Osama Alsmadi, Ali Al Ahmari, Ibrahim Al Fawaz, Safa Alhissi, Bandar K. Al Saud, Mouhab Ayas, Atia Sheereen

Publikováno v: Blood research

Background Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients. Methods FHL associated gene screening was performed on 87 Saudi patients who w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7bbe46706b7e9c6951df92c2d793c3
https://doi.org/10.5045/br.2021.2020308

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

C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review

Autor: Abdulaziz Al Ghonaium, Hasan Al Dhekri, Sahar Al Shorbaghi, Bandar K. Al Saud, Hamoud Al-Mousa, Rand Arnaout, Abbas Hawwari, Saleh Al Muhsen, Lina Al Baik

Publikováno v: Journal of Clinical Immunology. 33:871-875

Complement deficiencies are rare primary immunodeficiency disorders, the diagnosis of which is often underestimated. Only a small number of molecular studies have been carried out for the characterization of the underlying genetic defects in these ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4486980056463b0c6e7b592992c87000
https://doi.org/10.1007/s10875-013-9872-7