Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Autor: Shaheen, R., Al-Dirbashi, O. Y., Al-Hassnan, Z. N., Al-Owain, M., Makhsheed, N., Basheeri, F., Seidahmed, M. Z., Salih, M. A. M., Faqih, E., Zaidan, H., Al-Sayed, M., Rahbeeni, Z., Al-Sheddi, T., Hashem, M., Kurdi, W., Shimozawa, N., Alkuraya, F. S.

Publikováno v: Clinical Genetics; Jan2011, Vol. 79 Issue 1, p60-70, 11p, 1 Color Photograph, 2 Diagrams, 2 Charts, 2 Graphs

The Discovery of Mitochondria-Endoplasmic Reticulum Contact Sites (MERCs) as Mitochondria-Associated Membranes (MAMs).

Autor: Makio, Tadashi¹ (AUTHOR), Simmen, Thomas¹ (AUTHOR) Thomas.Simmen@ualberta.ca

Publikováno v: Contact (25152564). 7/25/2024, p1-23. 23p.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Autor: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Jiang N; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Al-Sheddi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia., Alshenqiti A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 1211, Saudi Arabia., Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Department of Child Neurology, Retired Lecturer, Trabzon 61080, Turkey., Saqati N; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 1211, Saudi Arabia., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 1211, Saudi Arabia., Al-Qattan MM; Department of Surgery, King Saudi University, Riyadh 11451, Saudi Arabia., Al-Mohanna F; Department of Cell Biology, King Faisal Specialist Hospital and Research Center, PO Box 245, Riyadh 11211, Saudi Arabia., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 731-737. Date of Electronic Publication: 2019 Mar 21.

Genomic and phenotypic delineation of congenital microcephaly.

Autor: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Tala SA; Department of Pediatrics, Genetic Unit, Armed Forces Hospital Southern Region, Khamis Mushayt, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Softah A; King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alazami AM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abadel B; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Sheddi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alomar R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hamad M; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alwadei AH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Alhazzani F; Pediatrics Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Kentab A; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Şahintürk S; Faculty of Medicine, Physiology Department, Bursa Uludag University, Bursa, Turkey., Sherr E; Department of Neurology, University of California, San Francisco, California, USA., Fregeau B; Department of Neurology, University of California, San Francisco, California, USA., Sogati S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia., Alshahwan SAM; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alkhalifi S; Maternity and Children Hospital, Dammam, Saudi Arabia., Alhumaidi Z; Maternity and Children Hospital, Dammam, Saudi Arabia., Temtamy S; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Aglan M; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Otaify G; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Girisha KM; Department of Medical Genetics Kasturba Medical College, Manipal University (currently Manipal Academy of Higher Education), Manipal, India., Tulbah M; Department of obstetrics and gynecology king Faisal specialist hospital and research center, Riyadh, Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Salih MA; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Momin AA; Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Saffar MA; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Partlow JN; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Arold ST; Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Walsh C; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 545-552. Date of Electronic Publication: 2018 Sep 14.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Autor: Alshenaifi J; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Sheddi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alomar R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Jacob M; The Newborn Screening and Biochemical Genetics Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhashem A; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alzaidan HI; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Alhashemi N; Department of Pediatrics, Royal Hospital, Muscat, Oman., Rawashdeh R; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Eyaid W; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alswaid A; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Hadid A; Department of Pediatrics College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Qari A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mohammed DA; Department of Pediatrics, Makkah Maternity and Children's Hospital, Makkah, Saudi Arabia., El Khashab HY; Department of Pediatrics Dr. Sulimann AL Habib Medical Group, Riyadh, Saudi Arabia.; Department of Pediatrics, Division of Pediatric Neurology Children Hospital, Ain Shams University, Cairo, Egypt., Alfadhel M; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Abanemai M; Pediatrics Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sunbul R; Pediatrics Medical Genetic Unit (PMGU), Pediatrics Department, Qatif Central Hospital, Qatif, Saudi Arabia., Al Tala S; Armed Forces Hospital Southern Region, Pediatric Directorate and Genetic Unit Khamis Mushayt, Khamis Mushait, Saudi Arabia., Alkhalifi S; Maternity and Children's Hospital, Dammam, Saudi Arabia., Alkharfi T; Department of Pediatrics, Sanad Hospital, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Al Tassan N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., AlDubayan SH; Department of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts., Kurdi W; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Dasouki MJ; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; The Newborn Screening and Biochemical Genetics Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Kentab AY; Department of Pediatrics College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Atyani S; Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait, Kuwait., Makhseed N; Pediatric Department, Al-Jahra Hospital, Ministry of Health, Kuwait, Kuwait., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, Riyadh, Saudi Arabia., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

Publikováno v: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 310-319. Date of Electronic Publication: 2018 Dec 18.