Condition: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1


rs72645347 in COL1A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 17211858 2007 Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

rs1410254723 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 26627451 2015 Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

PMID 27748872 2016 Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 9272740 1997 Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

PMID 22589248 2012 Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

PMID 16705691 2006 Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

PMID 26371943 2018 Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.

PMID 26432670 2015 Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

PMID 28498836 2017 Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

PMID 27519266 2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 28810924 2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

PMID 26138843 2015 Genetics of Osteoporosis in Children.

PMID 22206639 2011 Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

PMID 21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

PMID 11288717 2001 Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 24342908 2014 Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

PMID 23692737 2013 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

PMID 22753364 2012 Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

PMID 26177859 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28378289 2017 Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

PMID 23934635 2014 A rare case of osteogenesis imperfecta combined with complete tooth loss.

PMID 26471105 2016 Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

PMID 15241796 2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

PMID 29595812 2018 Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

PMID 8094076 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

PMID 25450603 2015 Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

rs764693725 in COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

rs863223458 in COL5A1;LOC101448202 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

rs1553513657 in COL5A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

rs80338764 in LOC101448202;COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 18972565 2009 COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

PMID 15580559 2005 The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

PMID 10602121 2000 Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

PMID 11992482 2002 Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

PMID 9042913 1997 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

rs1564161224 in TGFBR1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.