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humans (181) 181
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1. Full Text Recessively Inherited Forms of Osteogenesis Imperfecta
by Byers, Peter H and Pyott, Shawna M
Annual review of genetics, ISSN 0066-4197, 12/2012, Volume 46, Issue 1, pp. 475 - 497
collagen | collagen folding | collagen-modifying proteins | prolyl 3-hydroxylation | rough endoplasmic reticulum | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics | Genetics, Population | Genetic Predisposition to Disease - genetics | Gene Frequency | Humans | Osteogenesis Imperfecta - genetics | Tacrolimus Binding Proteins - metabolism | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - metabolism | Genes, Recessive | HSP47 Heat-Shock Proteins - genetics | Fractures, Bone - genetics | Genetic Heterogeneity | Procollagen-Proline Dioxygenase - metabolism | Tacrolimus Binding Proteins - genetics | Inheritance Patterns | Phenotype | Collagen Type I - genetics | Procollagen-Proline Dioxygenase - genetics | Alleles | HSP47 Heat-Shock Proteins - metabolism | Heterozygote | Fractures, Bone - pathology | Mutation | Epigenetic inheritance | Gene mutations | Osteogenesis imperfecta | Physiological aspects | Genetic aspects | Research | Gene expression | Genetics | Genetic disorders | Bone diseases | Collagen | Index Medicus
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2. Full Text WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
by Pyott, Shawna M and Tran, Thao T and Leistritz, Dru F and Pepin, Melanie G and Mendelsohn, Nancy J and Temme, Renee T and Fernandez, Bridget A and Elsayed, Solaf M and Elsobky, Ezzat and Verma, Ishwar and Nair, Sreelata and Turner, Emily H and Smith, Joshua D and Jarvik, Gail P and Byers, Peter H
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 590 - 597
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Wnt1 Protein - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Male | Mutation - genetics | Disease Progression | Young Adult | Pedigree | Adult | Female | Osteogenesis Imperfecta - pathology | Child | RNA sequencing | Care and treatment | Gene mutations | Analysis | Osteogenesis imperfecta | Research | Diagnosis | Protein-protein interactions | Osteoporosis | Fractures | RNA | Collagen | Low density lipoproteins | Genomics | Medical genetics | Bones | Genetic aspects | Density | Protein binding | Signal transduction | Genetic disorders | Genetic research | Bone density | Mutation | Binding sites | Index Medicus | Report
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3. Full Text Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
by Christiansen, Helena E and Schwarze, Ulrike and Pyott, Shawna M and AlSwaid, Abdulrahman and Al Balwi, Mohammed and Alrasheed, Shatha and Pepin, Melanie G and Weis, Mary Ann and Eyre, David R and Byers, Peter H
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 389 - 398
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | 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 | Osteogenesis Imperfecta - metabolism | Humans | Collagen Type I - chemistry | Child, Preschool | Endoplasmic Reticulum - metabolism | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Mutation, Missense | Base Sequence | Fatal Outcome | Conserved Sequence | Female | Protein Stability | Amino Acid Sequence | Collagen Type I - metabolism | Osteogenesis Imperfecta - diagnostic imaging | Genes, Recessive | HSP47 Heat-Shock Proteins - genetics | DNA - genetics | Radiography | Sequence Homology, Amino Acid | Homozygote | Phenotype | Pedigree | HSP47 Heat-Shock Proteins - metabolism | Consanguinity | Proteasome Endopeptidase Complex - metabolism | Amino Acid Substitution | Osteogenesis imperfecta | Genetic aspects | Research | Gene mutations | Homozygosity | Proteins | Genetics | Mutation | Proteases | Genes | Index Medicus
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4. Full Text Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
by Loeys, Bart L and Schwarze, Ulrike and Holm, Tammy and Callewaert, Bert L and Thomas, George H and Pannu, Hariyadarshi and De Backer, Julie F and Oswald, Gretchen L and Symoens, Sofie and Manouvrier, Sylvie and Roberts, Amy E and Faravelli, Francesca and Greco, M. Alba and Pyeritz, Reed E and Milewicz, Dianna M and Coucke, Paul J and Cameron, Duke E and Braverman, Alan C and Byers, Peter H and De Paepe, Anne M and Dietz, Harry C
The New England journal of medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 8, pp. 788 - 798
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cardiology. Vascular system | Biological and medical sciences | General aspects | Medical sciences | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Blood and lymphatic vessels | Aneurysm, Dissecting - genetics | Receptors, Transforming Growth Factor beta - genetics | Collagen Type III - biosynthesis | Humans | Protein-Serine-Threonine Kinases | Male | Abnormalities, Multiple - mortality | Mutation, Missense | Activin Receptors, Type I - genetics | Syndrome | Pregnancy | Ehlers-Danlos Syndrome - genetics | Phenotype | Abnormalities, Multiple - therapy | DNA Mutational Analysis | Pregnancy Complications - genetics | Survival Analysis | Germ-Line Mutation | Adult | Female | Aortic Aneurysm - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Arteries - abnormalities | Aneurysms | Causes of | Genetic code | Genetic aspects | Gene mutations | Analysis | Index Medicus | Abridged Index Medicus
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5. Full Text The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
by Pepin, Melanie G and Murray, Mitzi L and Bailey, Samuel and Leistritz-Kessler, Dru and Schwarze, Ulrike and Byers, Peter H
Genetics in medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 20 - 24
gene sequence variants of unknown significance | laboratory interpretation | concordance | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Data Interpretation, Statistical | Reproducibility of Results | Genetic Association Studies | Gene Frequency | Humans | Genetic Testing - methods | Sequence Analysis, DNA - methods | Index Medicus
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6. Full Text A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
by Jones, Kelly L and Schwarze, Ulrike and Adam, Margaret P and Byers, Peter H and Mefford, Heather C
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2691 - 2696
congenital disorder of glycosylation | linkeropathy | multiple fractures | B3GAT3 | proteoglycan disorder | Congenital disorder of glycosylation | Linkeropathy | Proteoglycan disorder | Multiple fractures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing | Humans | Infant | Male | Mutation - genetics | Syndrome | Radiography | Glucuronosyltransferase - genetics | Homozygote | Phenotype | Fractures, Multiple - diagnostic imaging | Infant, Newborn | Fractures, Multiple - genetics | Bones | Density | Genetic aspects | Index Medicus
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7. Full Text Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
by Schwarze, Ulrike and Cundy, Tim and Liu, Yajuan J and Hofman, Paul L and Byers, Peter H
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1466 - 1475
collagen folding | SERPINH1 | RER retention signal | osteogenesis imperfecta | regulatory mutation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Osteogenesis imperfecta | Bones | Genetic aspects | RNA | Density | Collagen | Phenotypes | Procollagen | Transcription | Frameshift mutation | Heterozygotes | Trimers | Lethality | Gene deletion | Embryos | Fractures | Clonal deletion | Arginine | Alleles | Fibroblasts | Bone density | Skin | Children | Mutation | Osteogenesis | Index Medicus
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8. Full Text Usefulness of Bicuspid Aortic Valve Phenotype to Predict Elastic Properties of the Ascending Aorta
by Schaefer, Benjamin M., MD and Lewin, Mark B., MD and Stout, Karen K., MD and Byers, Peter H., MD and Otto, Catherine M., MD
The American journal of cardiology, ISSN 0002-9149, 2007, Volume 99, Issue 5, pp. 686 - 690
Cardiovascular | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Endocardial and cardiac valvular diseases | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Medical sciences | Predictive Value of Tests | Echocardiography | Age Factors | Aorta - diagnostic imaging | Aortic Valve - diagnostic imaging | Aortic Valve - abnormalities | Humans | Middle Aged | Aortic Valve - physiopathology | Elasticity | Male | Phenotype | Adult | Female | Aged | Blood Pressure - physiology | Retrospective Studies | Aorta - physiopathology | Heart valve diseases | Analysis | Genetic aspects | Genotype & phenotype | Cardiovascular disease | Ultrasonic imaging | Cardiology | Coronary vessels | Index Medicus | Abridged Index Medicus
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9. Full Text Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
by Alanay, Yasemin and Avaygan, Hrispima and Camacho, Natalia and Utine, G. Eda and Boduroglu, Koray and Aktas, Dilek and Alikasifoglu, Mehmet and Tuncbilek, Ergul and Orhan, Diclehan and Bakar, Filiz Tiker and Zabel, Bernard and Superti-Furga, Andrea and Bruckner-Tuderman, Leena and Curry, Cindy J.R and Pyott, Shawna and Byers, Peter H and Eyre, David R and Baldridge, Dustin and Lee, Brendan and Merrill, Amy E and Davis, Elaine C and Cohn, Daniel H and Akarsu, Nurten and Krakow, Deborah
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 551 - 559
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | 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 | Humans | Osteogenesis Imperfecta - genetics | Male | Mutation - genetics | Genes, Recessive | Case-Control Studies | Tacrolimus Binding Proteins - genetics | Homozygote | Phenotype | Collagen Type I - genetics | Pedigree | Adolescent | Female | Osteogenesis Imperfecta - pathology | Child | Skin - pathology | Cohort Studies | Osteogenesis imperfecta | Genetic aspects | Gene mutations | Protein folding | Analysis | Proteins | Bones | Mutation | Pathogenesis | Genes | Index Medicus
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10.