المؤلفون: 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.

مؤلفون مشاركون: Ciliopathy WorkingGroup

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

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cilia/*genetics , Ciliary Motility Disorders/*genetics , Ciliopathies/*genetics , Encephalocele/*genetics , Mutation/*genetics , Polycystic Kidney Diseases/*genetics, Alleles ; Cilia/pathology ; Ciliary Motility Disorders/pathology ; Ciliopathies/pathology ; DNA Mutational Analysis ; Encephalocele/pathology ; Genetic Association Studies ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Humans ; Phenotype ; Polycystic Kidney Diseases/pathology ; Retina/metabolism ; Retina/pathology ; Retinitis Pigmentosa

SCR Disease Name: Meckel syndrome type 1

المؤلفون: Shaheen R; Department of Genetics and., Almoisheer A; Department of Genetics and., Faqeih E; Department of Pediatric Subspecialty, Children's Specialized Hospital, King Fahad Medical City, Riyadh 59046, Saudi Arabia., Babay Z; Depatment of Obstetrics and Gynecology, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Monies D; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Tassan N; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Kurdi W; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Mardawi E; Department of Obstetrics and Gynecology and., Khalil MM; Department of Obstetrics and Gynecology and Department of Obstetrics and Gynecology, Menoufiya University, Menoufiya, Egypt., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital Program, Riyadh, Saudi Arabia., Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsahan N; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sogaty S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia., Singh A; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, UP, India., Goyal M; Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, UP, India., Kapoor S; Department of Pediatrics Genetic & Research Laboratory, Maulana Azad Medical College, New Delhi, India and., Alomar R; Department of Genetics and., Ibrahim N; Department of Genetics and., Alkuraya FS; Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia falkuraya@kfshrc.edu.sa alkuraya@outlook.com.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Sep 15; Vol. 24 (18), pp. 5211-8. Date of Electronic Publication: 2015 Jun 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Loci* , Mutation*, Ciliary Motility Disorders/*genetics , Encephalocele/*genetics , Membrane Proteins/*genetics , Polycystic Kidney Diseases/*genetics, Alleles ; Cilia/genetics ; Cilia/metabolism ; Ciliary Motility Disorders/diagnosis ; Ciliary Motility Disorders/metabolism ; Consanguinity ; DNA Mutational Analysis ; Encephalocele/diagnosis ; Encephalocele/metabolism ; Female ; Genetic Heterogeneity ; Genotype ; Hedgehog Proteins/metabolism ; Humans ; Male ; Pedigree ; Polycystic Kidney Diseases/diagnosis ; Polycystic Kidney Diseases/metabolism ; Retinitis Pigmentosa ; Signal Transduction

SCR Disease Name: Meckel syndrome type 1

المؤلفون: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jul; Vol. 21 (7), pp. 762-8. Date of Electronic Publication: 2012 Nov 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders/*genetics , Encephalocele/*genetics , Membrane Proteins/*genetics , Polycystic Kidney Diseases/*genetics , Proteins/*genetics , Vesicular Transport Proteins/*genetics, Arabs/genetics ; Ciliary Motility Disorders/physiopathology ; Encephalocele/physiopathology ; Exome ; Genetic Association Studies ; Genetic Heterogeneity ; Genome, Human ; Humans ; Intercellular Signaling Peptides and Proteins ; Mutation ; Polycystic Kidney Diseases/physiopathology ; Retinitis Pigmentosa ; Sequence Analysis, DNA

SCR Disease Name: Meckel syndrome type 1

المؤلفون: Shaheen R; Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia. falkuraya@kfshrc.edu.sa, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS

المصدر: Journal of medical genetics [J Med Genet] 2013 Mar; Vol. 50 (3), pp. 160-2. Date of Electronic Publication: 2013 Jan 24.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Ciliary Motility Disorders/*genetics , Encephalocele/*genetics , Membrane Proteins/*genetics , Polycystic Kidney Diseases/*genetics, Abortion, Spontaneous ; Amino Acid Sequence ; Consanguinity ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Pregnancy ; Retinitis Pigmentosa ; Sequence Alignment

SCR Disease Name: Meckel syndrome type 1

المؤلفون: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS

المصدر: Human mutation [Hum Mutat] 2011 Jun; Vol. 32 (6), pp. 573-8. Date of Electronic Publication: 2011 May 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders/*genetics , Encephalocele/*genetics , Membrane Proteins/*genetics , Polycystic Kidney Diseases/*genetics, Animals ; Ciliary Motility Disorders/diagnosis ; Ciliary Motility Disorders/pathology ; Disease Models, Animal ; Encephalocele/diagnosis ; Encephalocele/pathology ; Genetic Heterogeneity ; Hedgehog Proteins/metabolism ; Humans ; Membrane Proteins/classification ; Mice ; Mutation/genetics ; Pedigree ; Phenotype ; Phylogeny ; Polycystic Kidney Diseases/diagnosis ; Polycystic Kidney Diseases/pathology ; Polydactyly/genetics ; Retinitis Pigmentosa

SCR Disease Name: Meckel syndrome type 1