المؤلفون: Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany. Electronic address: rutschf@ukmuenster.de., MacDougall M; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address: macdougall@uab.edu., Lu C; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Buers I; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany., Mamaeva O; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Nitschke Y; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany., Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK., Erlandsen H; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kehl HG; Department of Pediatric Cardiology, Muenster University Children's Hospital, 48149 Muenster, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany., Höhne W; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Crow YJ; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris 75015, France; Paris Descartes - Sorbonne Paris Cité University, Institute Imagine, Paris 75006, France., Feigenbaum A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of San Diego, San Diego, CA 92123, USA., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, the Netherlands.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Feb 05; Vol. 96 (2), pp. 275-82. Date of Electronic Publication: 2015 Jan 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Models, Molecular* , Phenotype*, Aortic Diseases/*genetics , DEAD-box RNA Helicases/*genetics , Dental Enamel Hypoplasia/*genetics , Metacarpus/*abnormalities , Muscular Diseases/*genetics , Odontodysplasia/*genetics , Osteoporosis/*genetics , Vascular Calcification/*genetics, Amino Acid Sequence ; Arteries/pathology ; Base Sequence ; Calcinosis/genetics ; Calcinosis/pathology ; DEAD-box RNA Helicases/chemistry ; DEAD-box RNA Helicases/metabolism ; Exome/genetics ; Genes, Dominant/genetics ; Humans ; Immunohistochemistry ; Interferon-Induced Helicase, IFIH1 ; Interferon-beta/metabolism ; Molecular Sequence Data ; Mutation, Missense/genetics ; Pedigree ; Sequence Analysis, DNA ; Tooth Abnormalities/genetics ; Tooth Abnormalities/pathology

SCR Disease Name: Singleton Merten syndrome

المؤلفون: Jang MA; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim EK; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Now H; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Nguyen NT; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Kim WJ; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Yoo JY; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Lee J; Korean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Korea; Department of Bioinformatics, University of Sciences and Technology, Daejeon 305-350, Korea., Jeong YM; Department of Biology, Chungnam National University, Daejeon 305-764, Korea., Kim CH; Department of Biology, Chungnam National University, Daejeon 305-764, Korea., Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul 152-862, Korea., Sohn S; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Nam SH; Samsung SDS, Seoul 138-240, Korea., Hong Y; Samsung SDS, Seoul 138-240, Korea., Lee YS; Samsung SDS, Seoul 138-240, Korea., Chang SA; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Jang SY; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim JW; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lee MS; Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lim SY; Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Sung KS; Department of Orthopedic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Park KT; Department of Pediatric Dentistry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim BJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lee JH; Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim DK; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kee C; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea. Electronic address: ckee@skku.edu., Ki CS; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea. Electronic address: changski@skku.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Feb 05; Vol. 96 (2), pp. 266-74. Date of Electronic Publication: 2015 Jan 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Models, Molecular*, Aortic Diseases/*genetics , DEAD-box RNA Helicases/*genetics , Dental Enamel Hypoplasia/*genetics , Glaucoma/*genetics , Metacarpus/*abnormalities , Muscular Diseases/*genetics , Odontodysplasia/*genetics , Osteoporosis/*genetics , Vascular Calcification/*genetics, Adult ; Aortic Diseases/pathology ; Base Sequence ; Cells, Cultured ; Child, Preschool ; DEAD Box Protein 58 ; DEAD-box RNA Helicases/chemistry ; Dental Enamel Hypoplasia/pathology ; Exome/genetics ; Female ; Genes, Dominant/genetics ; Humans ; Male ; Metacarpus/pathology ; Molecular Sequence Data ; Muscular Diseases/pathology ; Musculoskeletal Abnormalities/diagnostic imaging ; Musculoskeletal Abnormalities/genetics ; Mutation, Missense/genetics ; Odontodysplasia/diagnostic imaging ; Odontodysplasia/pathology ; Osteoporosis/pathology ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Radiography ; Receptors, Immunologic ; Sequence Analysis, DNA ; Vascular Calcification/pathology

SCR Disease Name: Singleton Merten syndrome