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1. Full Text Osteogenesis imperfecta
by Forlino, Antonella, PhD and Marini, Joan C, Dr
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 387, Issue 10028, pp. 1657 - 1671
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Calcification, Physiologic - genetics | Genetic Predisposition to Disease | Osteogenesis Imperfecta - diagnosis | Humans | Protein Processing, Post-Translational - genetics | Bone Density Conservation Agents - therapeutic use | Osteogenesis Imperfecta - genetics | Osteogenesis Imperfecta - therapy | Cell Differentiation - genetics | Osteoblasts - pathology | Collagen Type I - genetics | Disease Management | Mutation | Osteogenesis - genetics | Post-translational modification | Osteogenesis imperfecta | Collagen | Enzymes | Proteins | Fractures | Genes | Extracellular matrix | Bones | Bone diseases | Endoplasmic reticulum | Index Medicus | Abridged Index Medicus
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2. Full Text Osteogenesis imperfecta
by Marini, Joan C and Forlino, Antonella and Bächinger, Hans Peter and Bishop, Nick J and Byers, Peter H and De Paepe, Anne and Fassier, Francois and Fratzl-Zelman, Nadja and Kozloff, Kenneth M and Krakow, Deborah and Montpetit, Kathleen and Semler, Oliver
Nature reviews. Disease primers, ISSN 2056-676X, 08/2017, Volume 3, Issue 1, pp. 17052 - 17052
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Bone and Bones - pathology | Genetic Predisposition to Disease | Collagen Type I - metabolism | Osteogenesis Imperfecta - diagnosis | Humans | Protein Processing, Post-Translational - genetics | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Fractures, Bone - diagnosis | Mutation - genetics | Genetic Testing - methods | Collagen Type I - genetics | Fractures, Bone - etiology | Bone and Bones - metabolism | Osteogenesis Imperfecta - epidemiology | Osteogenesis Imperfecta - physiopathology | Collagen - genetics | Infant, Newborn | Osteogenesis - genetics | Index Medicus
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3. Full Text Osteogenesis imperfecta
by Rauch, Frank and Glorieux, Francis H
The Lancet (British edition), ISSN 0140-6736, 2004, Volume 363, Issue 9418, pp. 1377 - 1385
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Bone and Bones - pathology | Bone and Bones - physiopathology | Osteogenesis Imperfecta - diagnosis | Humans | Diphosphonates - therapeutic use | Osteogenesis Imperfecta - physiopathology | Osteogenesis Imperfecta - therapy | Osteogenesis Imperfecta - classification | Osteogenesis imperfecta | Care and treatment | Genetic disorders | Research | Bones | Medical disorders | Medical treatment | Index Medicus | Abridged Index Medicus
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4. Full Text A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
by Cho, Tae-Joon and Lee, Kyung-Eun and Lee, Sook-Kyung and Song, Su Jeong and Kim, Kyung Jin and Jeon, Daehyun and Lee, Gene and Kim, Ha-Neui and Lee, Hye Ran and Eom, Hye-Hyun and Lee, Zang Hee and Kim, Ok-Hwa and Park, Woong-Yang and Park, Sung Sup and Ikegawa, Shiro and Yoo, Won Joon and Choi, In Ho and Kim, Jung-Wook
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 343 - 348
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Membrane Proteins - genetics | Humans | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Osteogenesis Imperfecta - diagnostic imaging | 5' Untranslated Regions - genetics | Sequence Analysis, DNA | Radiography | Point Mutation - genetics | Exome - genetics | Base Sequence | Adolescent | Adult | Female | Child | Genetic Linkage | Usage | Gene mutations | Growth | Exome sequencing | Osteogenesis imperfecta | Causes of | Bones | Genetic aspects | Research | Health aspects | Membrane proteins | Proteins | Membranes | Genetic disorders | Mutation | Gene expression | Index Medicus | Report
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5. Full Text A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
by Semler, Oliver and Garbes, Lutz and Keupp, Katharina and Swan, Daniel and Zimmermann, Katharina and Becker, Jutta and Iden, Sandra and Wirth, Brunhilde and Eysel, Peer and Koerber, Friederike and Schoenau, Eckhard and Bohlander, Stefan K and Wollnik, Bernd and Netzer, Christian
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 349 - 357
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Codon, Initiator - genetics | Membrane Proteins - genetics | Humans | Computational Biology | Osteogenesis Imperfecta - drug therapy | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Infant | Osteogenesis Imperfecta - diagnostic imaging | 5' Untranslated Regions - genetics | Absorptiometry, Photon | Sequence Analysis, DNA | Point Mutation - genetics | Exome - genetics | Base Sequence | Diphosphonates - therapeutic use | Female | Child | Usage | Gene mutations | Growth | Exome sequencing | Osteogenesis imperfecta | Causes of | Bones | Genetic aspects | Research | Genetic translation | Genotype & phenotype | Amino acids | Genetic disorders | Mutation | Genomics | Cells | Index Medicus | Report
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