Published in N Engl J Med on March 09, 2000
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet (2009) 2.50
Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis (2007) 2.28
Extracellular matrix molecules: potential targets in pharmacotherapy. Pharmacol Rev (2009) 1.90
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
Epidemiology of thoracic aortic dissection. Nat Rev Cardiol (2010) 1.74
Carotid and vertebral artery dissection syndromes. Postgrad Med J (2005) 1.69
Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat Rev Cardiol (2009) 1.65
Ehlers-Danlos syndrome. N Engl J Med (2000) 1.61
Aneurysms of the ascending aorta. Dtsch Arztebl Int (2012) 1.60
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet (2001) 1.58
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg (2014) 1.54
Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events. Med Hypotheses (2013) 1.42
Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. Can J Cardiol (2010) 1.40
Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol (2012) 1.32
Aortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections. Int J Vasc Med (2013) 1.29
Rationale and design of the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Am Heart J (2008) 1.28
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology (2009) 1.21
The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest (2001) 1.19
Diminished type III collagen promotes myofibroblast differentiation and increases scar deposition in cutaneous wound healing. Cells Tissues Organs (2011) 1.19
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation (2008) 1.18
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur J Hum Genet (2012) 1.14
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. Virchows Arch (2007) 1.12
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis (2009) 1.11
Spontaneous coronary artery dissection: current insights and therapy. Neth Heart J (2008) 1.10
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta (2009) 1.10
The genetics and genomics of thoracic aortic disease. Ann Cardiothorac Surg (2013) 1.08
Cervical artery dissection: emerging risk factors. Open Neurol J (2010) 1.08
Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. Ann Thorac Surg (2009) 1.06
Differentiation of secreted and membrane-type matrix metalloproteinase activities based on substitutions and interruptions of triple-helical sequences. Biochemistry (2007) 1.05
Coronary artery manifestations of fibromuscular dysplasia. J Am Coll Cardiol (2014) 1.04
Natural variation in four human collagen genes across an ethnically diverse population. Genomics (2008) 1.03
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr (2013) 1.00
Ehlers-Danlos syndrome type IV and recurrent carotid-cavernous fistula: review of the literature, endovascular approach, technique and difficulties. Neuroradiology (2005) 0.99
Vascular wall extracellular matrix proteins and vascular diseases. Biochim Biophys Acta (2014) 0.99
Ehlers-Danlos syndrome type IV. N Engl J Med (2000) 0.98
From GWAS to the clinic: risk factors for intracranial aneurysms. Genome Med (2010) 0.96
The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome. Vet Pathol (2010) 0.94
Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol (2011) 0.94
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet (2003) 0.93
Cerebrovascular Involvement in Ehlers-Danlos Syndrome. Curr Treat Options Cardiovasc Med (2004) 0.93
Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. Prog Cardiovasc Dis (2013) 0.93
Causes and histopathology of ascending aortic disease in children and young adults. Cardiovasc Pathol (2010) 0.93
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet (2009) 0.92
Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm. Hum Genet (2003) 0.90
Aneurysmal Subarachnoid Hemorrhage. J Neurosurg Anesthesiol (2015) 0.89
Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health (2012) 0.89
Spontaneous rupture of the spleen in type IV Ehlers-Danlos syndrome: report of a case. Surg Today (2009) 0.89
Pathophysiology of vascular dementia. Immun Ageing (2009) 0.88
Carotid-cavernous fistula in ehlers-danlos syndrome by pure transvenous approach. Interv Neuroradiol (2006) 0.88
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease. Cerebrovasc Dis Extra (2012) 0.87
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet (2010) 0.87
Gastrointestinal bleeding in a patient with Ehlers-Danlos syndrome: an endoscopic dilemma. Dig Dis Sci (2005) 0.86
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis (2014) 0.86
The role of genetics in stroke. Postgrad Med J (2007) 0.86
Management of brachial artery aneurisms in infants. Pediatr Surg Int (2008) 0.85
Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome. Cardiovasc Res (2010) 0.85
Spontaneous liver rupture in Ehlers-Danlos syndrome type IV. J R Soc Med (2005) 0.85
Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome. J Pharmacol Exp Ther (2011) 0.84
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet (2015) 0.83
Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients. PLoS One (2013) 0.83
Stroke-related translational research. Arch Neurol (2011) 0.83
Type III Collagen Directs Stromal Organization and Limits Metastasis in a Murine Model of Breast Cancer. Am J Pathol (2015) 0.81
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. FASEB J (2011) 0.81
Single gene disorders causing ischaemic stroke. J Neurol (2006) 0.81
Ehlers-Danlos syndrome and neurological features: a review. Childs Nerv Syst (2010) 0.80
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. J Cardiovasc Dev Dis (2015) 0.79
The role of mechanotransduction on vascular smooth muscle myocytes' [corrected] cytoskeleton and contractile function. Anat Rec (Hoboken) (2014) 0.79
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. BMJ Open (2012) 0.79
Chronic treatment with a broad-spectrum metalloproteinase inhibitor, doxycycline, prevents the development of spontaneous aortic lesions in a mouse model of vascular Ehlers-Danlos syndrome. J Pharmacol Exp Ther (2012) 0.79
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. Orphanet J Rare Dis (2015) 0.79
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med (2016) 0.79
Aortic Measurements in Patients with Aortopathy are Larger and More Reproducible by Cardiac Magnetic Resonance Compared with Echocardiography. Pediatr Cardiol (2015) 0.79
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biol (2016) 0.79
Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature. J Med Case Rep (2011) 0.78
Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case. Surg Today (2011) 0.78
The identification of pathway markers in intracranial aneurysm using genome-wide association data from two different populations. PLoS One (2013) 0.78
Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis. Stroke Res Treat (2011) 0.78
Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology (2014) 0.78
Endovascular treatment for a spontaneous rupture of the posterior tibial artery in a patient with Ehlers-Danlos syndrome Type IV: report of a case. Surg Today (2009) 0.77
The genetic epidemiology of diverticulosis and diverticular disease: Emerging evidence. United European Gastroenterol J (2015) 0.77
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder. Am J Med Genet A (2013) 0.77
Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case. Surg Today (2012) 0.77
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. Heart Vessels (2008) 0.77
Subarachnoid haemorrhage with bilateral intracranial vertebral artery dissecting aneurysms treated by staged endovascular stenting. BMJ Case Rep (2013) 0.77
Current evidence and insights about genetics in thoracic aorta disease. ScientificWorldJournal (2013) 0.77
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. Cell Tissue Res (2008) 0.77
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. Hum Genet (2015) 0.76
Fusiform aneurysm presenting with cervical radiculopathy in ehlers-danlos syndrome. J Korean Neurosurg Soc (2010) 0.76
Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. Case Rep Genet (2013) 0.76
Genes in thoracic aortic aneurysms/dissections - do they matter? Ann Cardiothorac Surg (2013) 0.76
JAK2-centered interactome hotspot identified by an integrative network algorithm in acute Stanford type A aortic dissection. PLoS One (2014) 0.76
Genetic testing of 248 Chinese aortopathy patients using a panel assay. Sci Rep (2016) 0.76
Genetic Risk Factors for Ischemic and Hemorrhagic Stroke. Curr Cardiol Rep (2016) 0.76
Clinical reasoning: a 21-year-old woman with right eye swelling and bruising. Neurology (2010) 0.75
Conditions presenting with symptoms of peripheral arterial disease. Semin Intervent Radiol (2014) 0.75
On-pump coronary artery bypass surgery in vascular Ehlers-Danlos syndrome. BMJ Case Rep (2014) 0.75
Life-threatening large subcutaneous hematoma after minor head trauma: A young female patient who was suspected of having new Ehlers-Danlos syndrome. Asian J Neurosurg (2015) 0.75
A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease. Ann R Coll Surg Engl (2015) 0.75
Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respir Med Case Rep (2014) 0.75
Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report. Medicine (Baltimore) (2014) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Correlation of procollagen mRNA levels in normal and transformed chick embryo fibroblasts with different rates of procollagen synthesis. Biochemistry (1978) 2.85
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science (1973) 2.74
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol (2001) 2.52
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature (1985) 2.46
Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proc Natl Acad Sci U S A (1982) 2.45
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem (1985) 2.45
Production of procollagen by human fibroblasts in culture. Proc Natl Acad Sci U S A (1972) 2.30
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1981) 2.28
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. J Biol Chem (1991) 2.03
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Preparation of type III procollagen and collagen from rat skin. Biochemistry (1974) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology (1996) 1.85
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem (1984) 1.84
The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart (2008) 1.81
Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A (1981) 1.78
BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta. J Biol Chem (1993) 1.72
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest (1983) 1.71
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest (1992) 1.68
Identification of the collagenous proteins synthesized by cultured cells from human skin. Biochemistry (1975) 1.67
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet (1996) 1.65
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med (1980) 1.62
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest (1990) 1.61
Osteogenesis imperfecta: update and perspective. Am J Med Genet (1984) 1.60
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat (2001) 1.60
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet (2001) 1.58
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet (1990) 1.56
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet (1990) 1.54
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet (2009) 1.53
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1985) 1.53
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet (1998) 1.51
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet (1994) 1.51
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. J Biol Chem (1993) 1.49
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. Am J Hum Genet (1990) 1.47
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet (1996) 1.46
Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts. Lab Invest (1981) 1.46
Complement as a mediator of inflammation in acute gouty arthritis. I. Studies on the reaction between human serum complement and sodium urate crystals. J Lab Clin Med (1973) 1.45
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest (1989) 1.45
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue. Eur J Pediatr (2008) 1.39
Procollagen. Adv Enzymol Relat Areas Mol Biol (1975) 1.37
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest (1979) 1.36
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet (1992) 1.35
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. J Biol Chem (1988) 1.34
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem (2001) 1.32
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet (1979) 1.31
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet (1993) 1.31
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr (1996) 1.29
Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart (1996) 1.27
Genetics of tuberous sclerosis. Lancet (1987) 1.27
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1991) 1.27
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am J Hum Genet (1992) 1.25
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am J Hum Genet (1999) 1.24
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet (1989) 1.24
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem (1988) 1.22
Genetic disorders of collagen metabolism. Adv Hum Genet (1982) 1.22
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet (1996) 1.22
Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Invest Dermatol (1982) 1.22
Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels. Coll Relat Res (1981) 1.21
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet (2001) 1.21
Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet (1983) 1.16
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A (2003) 1.15
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet (2005) 1.15
Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain. Proc Natl Acad Sci U S A (1975) 1.14
Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Ann Neurol (1995) 1.14
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet (1986) 1.14
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Am J Hum Genet (1991) 1.14
Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern. J Biol Chem (1992) 1.13
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet (2000) 1.11
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. J Med Genet (2002) 1.11
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol (1998) 1.10
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet (1997) 1.10
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol (1997) 1.10
The painful hip: evaluation of criteria for clinical decision-making. Eur J Pediatr (1999) 1.09
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin Genet (1979) 1.07
Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis (2011) 1.05
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet (1998) 1.05
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet (2010) 1.05
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1995) 1.05
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet (2000) 1.04
Osteoporosis-pseudoglioma or osteogenesis imperfecta? Clin Genet (1986) 1.04
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet (1997) 1.03
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet (2002) 1.03
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet (2005) 1.03