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1. Full Text Killing the messenger: New insights into nonsense-mediated mRNA decay
by Byers, Peter H
Journal of Clinical Investigation, ISSN 0021-9738, 2002, Volume 109, Issue 1, pp. 3 - 6
Journal Article
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2. Full Text Heritable Collagen Disorders: The Paradigm of the Ehlers—Danlos Syndrome
by Byers, Peter H and Murray, Mitzi L
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2012, Volume 132, Issue 1, pp. E6 - E11
Ehlers-Danlos Syndrome - pathology | Ehlers-Danlos Syndrome - classification | Ehlers-Danlos Syndrome - genetics | Humans | Joint Instability - classification | Joint Instability - genetics | Joint Instability - pathology | Collagen - genetics | Skin - pathology
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3. Osteogenesis imperfecta
: a translational approach to brittle bone disease
by Shapiro, Jay R and Byers, Peter H and Glorieux, Francis H and Sponseller, Paul D
2014, ISBN 0123971659
Osteogenesis imperfecta
Web Resource
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4. 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
More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2 . The... 
collagen | collagen folding | collagen-modifying proteins | prolyl 3-hydroxylation | rough endoplasmic reticulum | HYDROXYLYSINE-DEFICIENT COLLAGEN | TRIPLE-HELIX | PERINATAL LETHAL | I COLLAGEN | TELOPEPTIDE LYSYL HYDROXYLASE | CARTILAGE-ASSOCIATED PROTEIN | GENETICS & HEREDITY | ENDOPLASMIC-RETICULUM | BRITTLE BONE-DISEASE | EHLERS-DANLOS-SYNDROME | 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
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5. Full Text Killing the messenger: new insights into nonsense-mediated mRNA decay
by Byers, PH
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 01/2002, Volume 109, Issue 1, pp. 3 - 6
MEDICINE, RESEARCH & EXPERIMENTAL | CODONS | PROTEIN | RNA | GENE | PRODUCT | NUCLEUS | CYTOPLASM | REGULATORY MECHANISM | TRANSLATION | Protein Biosynthesis | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Saccharomyces cerevisiae - genetics | Humans | RNA, Messenger - genetics | Cytoplasm - metabolism | Codon, Nonsense | RNA, Messenger - metabolism | RNA, Fungal - metabolism | Saccharomyces cerevisiae - metabolism | Animals | Cell Nucleus - metabolism | RNA, Helminth - metabolism | Models, Biological | RNA, Fungal - genetics | Mutation | Codon, Terminator | RNA, Helminth - genetics | Spotlight
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6. Earth under fire
: how global warming is changing the world
by Braasch, Gary and McKibben, Bill
2007, 2, ISBN 0520244389, 267
More than a warning,Earth under Fireis the most complete illustrated guide to the effects of climate change now available. It offers an upbeat and intelligent... 
Climatic changes | Global warming | McKibben,Bill | Physics
Book
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7. Full Text The 2017 international classification of the Ehlers-Danlos syndromes
by Malfait, F and Francomano, C and Byers, P and Belmont, J and Berglund, B and Black, J and Bloom, L and Bowen, J.M and Brady, A.F and Burrows, N.P and Castori, M and Cohen, H and Colombi, M and Demirdas, S and Backer, J. De and Paepe, A. De and Fournel-Gigleux, S and Frank, M and Ghali, N and Giunta, C and Grahame, R and Hakim, A and Jeunemaitre, X and Johnson, D and Juul-Kristensen, B and Kapferer-Seebacher, I and Kazkaz, H and Kosho, T and Lavallee, M.E and Levy, H and Mendoza-Londono, R and Pepin, M and Pope, F.M and Reinstein, E and Robert, L and Rohrbach, M and Sanders, L and Sobey, G.J and Damme, T. Van and Vandersteen, A and Mourik, C. van and Voermans, N.C and Wheeldon, N and Zschocke, J and Tinkle, B
American Journal of Medical Genetics Part c : Seminars in Medical Genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint... 
collagen | Ehlers–Danlos syndromes | classification | genetic basis | MUSCULOSKELETAL PAIN | FORM | Ehlers-Danlos syndromes | PAPULES | VARIANT | JOINT HYPERMOBILITY SYNDROME | GENE | NOSOLOGY | GENETICS & HEREDITY | PROPENSITY | MUTATIONS | DIAGNOSTIC-CRITERIA | Ehlers-Danlos Syndrome - classification | Ehlers-Danlos Syndrome - genetics | Humans | Collagen - genetics | Connective Tissue Diseases - genetics | Ehlers-Danlos Syndrome - diagnosis | Mutation | Genetic Heterogeneity | Practice Guidelines as Topic | Enzymes | Genes | Disorders | Criteria | Fragility | Proteins | Consortia | Connective tissues | Heterogeneity | Collagen | Classification | Skin | Diagnosis | Index Medicus | Life Sciences | Genetics | Human genetics
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8. Full Text Heritable Collagen Disorders: The Paradigm of the Ehlers-Danlos Syndrome
by Byers, Peter H and Murray, Mitzi L
The Journal of investigative dermatology, ISSN 0022-202X, 11/2012, Volume 132 Suppl 3, p. E6
Journal Article
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9. 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
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 389 - 398
Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short... 
CHAIN | CRTAP | GENETICS & HEREDITY | MOLECULAR CHAPERONE | I COLLAGEN | BONE | PROCOLLAGEN | DEFICIENCY | PROPEPTIDE | 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
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10. Full Text Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV)
by Pepin, Melanie G and Schwarze, Ulrike and Rice, Kenneth M and Liu, Mingdong and Leistritz, Dru and Byers, Peter H
Genetics in Medicine, ISSN 1098-3600, 12/2014, Volume 16, Issue 12, pp. 881 - 888
Purpose: We sought to characterize the natural history of vascular Ehlers Danlos syndrome in individuals with heterozygous COL3A1 mutations. Methods: We... 
splice-site mutations | nonsense mutations | missense mutations | Ehlers-Danlos syndrome type IV | survival | COLLAGEN | STABILITY | GENETICS & HEREDITY | COMPLICATIONS | Ehlers-Danlos Syndrome - mortality | Humans | Middle Aged | Male | Treatment Outcome | Collagen Type III - genetics | Mutation, Missense | Genetic Variation | Young Adult | Ehlers-Danlos Syndrome - genetics | RNA Splicing | DNA Mutational Analysis | Adolescent | Alleles | Aged, 80 and over | Adult | Female | Aged | Mutation | Child
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11. Full Text A framework for the classification of joint hypermobility and related conditions
by Castori, Marco and Tinkle, Brad and Levy, Howard and Grahame, Rodney and Malfait, Fransiska and Hakim, Alan
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2017, Volume 175, Issue 1, pp. 148 - 157
In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the... 
Ehlers–Danlos syndrome | joint hypermobility | nosology | classification | terminology | CRITERIA | DIFFERENTIAL-DIAGNOSIS | Ehlers-Danlos syndrome | CHRONIC PAIN | DISORDERS | SYNDROME/EHLERS-DANLOS SYNDROME | CHILDREN | SYNDROME BJHS | GENETICS & HEREDITY | CONNECTIVE-TISSUE | MANIFESTATIONS | Ehlers-Danlos Syndrome - diagnosis | Humans | Joint Instability - classification | Practice Guidelines as Topic | Analysis | Medical genetics | Diagnostic systems | Terminology | Categories | Classification | Disorders
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12. Full Text Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome
by Murray, Mitzi L and Pepin, Melanie and Peterson, Suzanne and Byers, Peter H
Genetics in Medicine, ISSN 1098-3600, 12/2014, Volume 16, Issue 12, pp. 874 - 880
Purpose: The purpose of this study was to characterize the nature and magnitude of pregnancy risks in women with vascular Ehlers-Danlos syndrome: Methods:... 
vascular Ehlers-Danlos syndrome | COL3A1 | pregnancy | MYOCARDIAL-INFARCTION | GENETICS & HEREDITY | SYNDROME TYPE-IV | Age Distribution | Humans | Middle Aged | Young Adult | Ehlers-Danlos Syndrome - genetics | Pregnancy Complications - mortality | Aged, 80 and over | Adult | Female | Retrospective Studies | Uterine Rupture | Parity | Ehlers-Danlos Syndrome - mortality | Risk Factors | Kaplan-Meier Estimate | Treatment Outcome | Maternal Death | Pregnancy | Ehlers-Danlos Syndrome - complications | Pedigree | Adolescent | Aneurysm, Dissecting - complications | Aged | Mutation | Rupture, Spontaneous
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13. Full Text Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
by Lindsay, M.E and Schepers, D and Bolar, N.A and Doyle, J.J and Gallo, E and Fert-Bober, J and Kempers, M.J.E and Fishman, E.K and Chen, Y and Myers, L and Bjeda, D and Oswald, G and Elias, A.F and Levy, H.P and Anderlid, B.M and Yang, M.H and Bongers, M.H.F and Timmermans, J and Braverman, A.C and Canham, N and Mortier, G.R and Brunner, H.G and Byers, P.H and Eyk, J. Van and Laer, L. van and Dietz, H.C and Loeys, B.L
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 8, pp. 922 - 927
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-beta signaling but is often caused by heterozygous... 
PATHOGENESIS | GROWTH-FACTOR-BETA | ACTIVATION | FIBRILLIN | MARFAN-SYNDROME | MOUSE MODEL | GENETICS & HEREDITY | RECEPTOR | MICE | CONTRIBUTES | Aortic Aneurysm, Thoracic - genetics | Humans | Male | Aortic Aneurysm, Thoracic - pathology | Mice, Mutant Strains | Female | Microfilament Proteins - genetics | Disease Models, Animal | Fibrillin-1 | Signal Transduction | Fibrillins | Marfan Syndrome - genetics | Syndrome | Haploinsufficiency | Mice, Knockout | Loeys-Dietz Syndrome - pathology | Phenotype | Animals | Pedigree | Marfan Syndrome - pathology | Loeys-Dietz Syndrome - genetics | Mice | Mutation | Transforming Growth Factor beta2 - genetics | Transforming Growth Factor beta2 - deficiency | Gene mutations | Aneurysms | Physiological aspects | Genetic aspects | Research | Transforming growth factors | Health aspects | Risk factors | Proteins | Genotype & phenotype | Hypotheses | Cytokines | Collagen | Ligands | Experiments
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