Characterizing the morbid genome of ciliopathies

Autor: Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Ma, Aldahmesh, Am, Alazami, Hashem M, Ibrahim N, Fm, Abdulwahab, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Fs, Alkuraya

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3c3d5618b840fed0e8966c37ee3dad99
http://europepmc.org/abstract/med/27894351

Congenital glaucoma and CYP1B1: an old story revisited.

Autor: Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya H; Specialized Medical Center Hospital, 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., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldahmesh MA; 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. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, 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.

Publikováno v: Human genetics [Hum Genet] 2019 Sep; Vol. 138 (8-9), pp. 1043-1049. Date of Electronic Publication: 2018 Mar 19.

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Autor: Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Abdel-Salam G; National Research Center, Cairo, Egypt., Nowilaty SR; Vitreo-retinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Mansour AM; Department of Ophthalmology, American University of Beirut, Beirut, Lebanon., Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Al-Owain M; Department of Medical 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., Sogati S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia., Salih MA; Division of Pediatrics Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Kamal AM; Department of Ophthalmology, Cairo University, Cairo, Egypt., Alsharif H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alzahrani SS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Faquih T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Shah ZA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Dasouki M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Wakil SM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Aldahmesh MA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Publikováno v: Clinical genetics [Clin Genet] 2018 Jun; Vol. 93 (6), pp. 1210-1222. Date of Electronic Publication: 2018 Mar 25.

Characterizing the morbid genome of ciliopathies.

Autor: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Szymanska K; Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Basu B; Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Patel N; 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., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Hashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Derar N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA., Alsharif H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldahmesh MA; Department of 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., Hashem M; 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., Abdulwahab FM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sonbul R; Department of Pediatrics, Qatif Central Hospital, Qatif, Saudi Arabia., Alkuraya H; Department of Ophthalmology, Specialized Medical Center Hospital, Riyadh, Saudi Arabia., Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Tala S; Department of Pediatric, Genetic Unit, Armed Forces Hospital Southern Region, Khamis Mushayt, Saudi Arabia., Al-Husain M; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Morsy H; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Meriki N; Department of Obstetrics and Gynecology, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical 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., AlShahwan S; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Salih MA; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Faquih T; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., El-Kalioby M; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Ueffing M; Division of Experimental Ophthalmology and Medical Bioanalytics, Center for Ophthalmology, Eberhard-Karls University Tübingen, 72076, Tübingen, Germany., Boldt K; Division of Experimental Ophthalmology and Medical Bioanalytics, Center for Ophthalmology, Eberhard-Karls University Tübingen, 72076, Tübingen, Germany., Logan CV; Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Parry DA; Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Al Tassan N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Project, 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 Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Megarbane A; Institut Jerome Lejeune, Paris, France., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Halees A; Health Information Technology Affairs, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Johnson CA; Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, LS9 7TF, UK., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. medcaj@leeds.ac.uk.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. medcaj@leeds.ac.uk.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. medcaj@leeds.ac.uk.

Publikováno v: Genome biology [Genome Biol] 2016 Nov 28; Vol. 17 (1), pp. 242. Date of Electronic Publication: 2016 Nov 28.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Autor: Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Aldahmesh MA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Alkuraya H; Department of Ophthalmology, College of Medicine, Al-Imam Muhammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.; Department of Ophthalmology, Specialized Medical Centre Hospital, Riyadh, Saudi Arabia., Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Alsharif H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;; Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Sunker A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Al-Mohsen S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abboud EB; Vitreo-retinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Nowilaty SR; Vitreo-retinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Alowain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Zaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Saud B; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alasmari A; Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia., Abdel-Salam GM; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., 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., Abdulwahab FM; 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;, Naim E; 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-Younes B; 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., E AlMostafa A; 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., AlIssa A; 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., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Buzovetsky O; Department of Structural Biology, College of Medicine, Yale University, New Haven, Connecticut, USA., Xiong Y; Department of Structural Biology, College of Medicine, Yale University, New Haven, Connecticut, USA., 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., Altassan 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., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;, Al-Hazzaa SA; Department of Ophthalmology, 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.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Jun; Vol. 18 (6), pp. 554-62. Date of Electronic Publication: 2015 Sep 10.