Published in Am J Med Genet A on June 01, 2006
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. Int J Pediatr Otorhinolaryngol (2011) 0.79
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A (2012) 0.77
Difficult Airway Management in Osmed Syndrome. Turk J Anaesthesiol Reanim (2014) 0.75
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J Biol Chem (2001) 2.88
Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. Brain (2010) 2.41
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. J Biol Chem (2008) 1.92
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Pain perception is altered by a nucleotide polymorphism in SCN9A. Proc Natl Acad Sci U S A (2010) 1.79
Occupational and genetic risk factors associated with intervertebral disc disease. Spine (Phila Pa 1976) (2007) 1.74
Association between interleukin 1 gene cluster polymorphisms and bilateral distal interphalangeal osteoarthritis. J Rheumatol (2009) 1.52
Serum antibodies against intact human collagen IX are elevated at onset of rheumatoid arthritis but are not related to development of erosions. J Rheumatol (2008) 1.45
Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol (2002) 1.28
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res (2005) 1.27
Interleukin 1 polymorphisms and intervertebral disc degeneration. Epidemiology (2004) 1.24
The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration. Spine (Phila Pa 1976) (2005) 1.24
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis (2014) 1.23
Sp1 and Sp3 transcription factors mediate interleukin-1 beta down-regulation of human type II collagen gene expression in articular chondrocytes. J Biol Chem (2003) 1.21
COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction. Spine (Phila Pa 1976) (2002) 1.19
Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IX. Mol Cell Biol (2005) 1.19
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet (2013) 1.11
Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet (2013) 1.11
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. Eur J Hum Genet (2003) 1.10
Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica. Pain (2005) 1.08
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. Eur Spine J (2005) 1.07
Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet (2002) 1.06
Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. BMC Med Genet (2011) 1.05
Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein. J Biol Chem (2004) 1.05
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat (2004) 1.05
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat (2008) 1.04
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. Hum Mutat (2007) 1.03
Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies. Spine (Phila Pa 1976) (2008) 1.03
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet (2012) 1.00
Down-regulation of human type II collagen gene expression by transforming growth factor-beta 1 (TGF-beta 1) in articular chondrocytes involves SP3/SP1 ratio. J Biol Chem (2002) 0.99
Genetic risk factors of disc degeneration among 12-14-year-old Danish children: a population study. Int J Mol Epidemiol Genet (2010) 0.99
Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. J Clin Invest (2013) 0.98
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A (2004) 0.98
Genetic association studies in lumbar disc degeneration: a systematic review. PLoS One (2012) 0.97
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A (2007) 0.96
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem (2007) 0.96
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet (2005) 0.96
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. Eur J Hum Genet (2003) 0.95
Genetic predisposition for femoral neck stress fractures in military conscripts. BMC Genet (2010) 0.93
Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6. Eur J Hum Genet (2002) 0.93
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. Am J Med Genet A (2004) 0.93
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet (2010) 0.93
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A (2011) 0.93
Is the interleukin-6 haplotype a prognostic factor for sciatica? Eur J Pain (2008) 0.92
Common interleukin-6 promoter variants associate with the more severe forms of distal interphalangeal osteoarthritis. Arthritis Res Ther (2008) 0.91
Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen. Radiology (2003) 0.91
The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix. J Biol Chem (2004) 0.91
Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation. J Bone Miner Res (2009) 0.89
Association between the aggrecan gene variable number of tandem repeats polymorphism and intervertebral disc degeneration. Spine (Phila Pa 1976) (2007) 0.88
Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica. Spine (Phila Pa 1976) (2002) 0.87
Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community. Genet Med (2007) 0.87
Constitutional retinoblastoma gene deletion in Egyptian patients. World J Pediatr (2009) 0.86
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family. Hum Hered (2005) 0.86
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A (2011) 0.85
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. J Appl Genet (2008) 0.85
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). Am J Med Genet A (2012) 0.84
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis. Eur J Med Genet (2012) 0.84
High incidence of Meniere-like symptoms in relatives of Meniere patients in the areas of Oulu University Hospital and Kainuu Central Hospital in Finland. Eur J Med Genet (2013) 0.83
Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration. J Rheumatol (2010) 0.82
Analysis of an ascidian integrin provides new insight into early evolution of collagen recognition. FEBS Lett (2007) 0.81
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes. Am J Med Genet A (2009) 0.81
Trimerization of collagen IX alpha-chains does not require the presence of the COL1 and NC1 domains. Biochem J (2008) 0.81
A replication study on proposed candidate genes in Ménière's disease, and a review of the current status of genetic studies. Int J Audiol (2012) 0.81
Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections. J Neurol (2002) 0.80
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet A (2013) 0.79
Role of environmental factors and history of low back pain in sciatica symptoms among Finnish adolescents. Spine (Phila Pa 1976) (2013) 0.79
Growth curves of Egyptian patients with Turner syndrome. Am J Med Genet A (2012) 0.79
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome. J Formos Med Assoc (2012) 0.79
Germline mosacism in Shprintzen-Goldberg syndrome. Am J Med Genet A (2012) 0.78
Gender difference in genetic association between IL1A variant and early lumbar disc degeneration: a three-year follow-up. Int J Mol Epidemiol Genet (2012) 0.78
Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population. J Bone Miner Res (2007) 0.78
Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings. Genet Med (2011) 0.78
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A (2012) 0.77
Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet (2016) 0.77
The collagen V homotrimer [alpha1(V)](3) production is unexpectedly favored over the heterotrimer [alpha1(V)](2)alpha2(V) in recombinant expression systems. J Biomed Biotechnol (2010) 0.76
Higher prevalence of autoimmune diseases and longer spells of vertigo in patients affected with familial Ménière's disease: A clinical comparison of familial and sporadic Ménière's disease. Am J Audiol (2014) 0.76