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Stickler SyndromeAla-Kokko, L.116 dayssaveRefWorksSFX Info
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathyAla-Kokko, L.271 dayssaveRefWorksSFX Info
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis ImperfectaAla-Kokko, L.271 dayssaveRefWorksSFX Info
Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
The collagenopathies: review of clinical phenotypes and molecular correlationsAla-Kokko, L.271 dayssaveRefWorksSFX Info
Gender difference in genetic association between IL1A variant and early lumbar disc degeneration: a three-year follow-upAla-Kokko, L.271 dayssaveRefWorksSFX Info
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Ala-Kokko, L.271 dayssaveRefWorksSFX Info
Germline mosacism in Shprintzen-Goldberg syndromeAla-Kokko, L.271 dayssaveRefWorksSFX Info
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activityAla-Kokko, L.271 dayssaveRefWorksSFX Info
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Ala-Kokko, L.271 dayssaveRefWorksSFX Info
A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Genetic susceptibility of intervertebral disc degeneration among young Finnish adultsAla-Kokko, L.271 dayssaveRefWorksSFX Info
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndromeAla-Kokko, L.271 dayssaveRefWorksSFX Info
Genetic risk factors of disc degeneration among 12-14-year-old Danish children: a population studyAla-Kokko, L.271 dayssaveRefWorksSFX Info
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen geneAla-Kokko, L.271 dayssaveRefWorksSFX Info
Genetic predisposition for femoral neck stress fractures in military conscriptsAla-Kokko, L.271 dayssaveRefWorksSFX Info
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunctionAla-Kokko, L.271 dayssaveRefWorksSFX Info
The collagen V homotrimer [alpha1(V)](3) production is unexpectedly favored over the heterotrimer [alpha1(V)](2)alpha2(V) in recombinant expression systemsAla-Kokko, L.271 dayssaveRefWorksSFX Info
Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literatureAla-Kokko, L.271 dayssaveRefWorksSFX Info
Association between interleukin 1 gene cluster polymorphisms and bilateral distal interphalangeal osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Mosaicism in Marshall syndromeAla-Kokko, L.271 dayssaveRefWorksSFX Info
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebratesAla-Kokko, L.271 dayssaveRefWorksSFX Info
Genetic factors are associated with modic changes in endplates of lumbar vertebral bodiesAla-Kokko, L.271 dayssaveRefWorksSFX Info
Serum antibodies against intact human collagen IX are elevated at onset of rheumatoid arthritis but are not related to development of erosionsAla-Kokko, L.271 dayssaveRefWorksSFX Info
Is the interleukin-6 haplotype a prognostic factor for sciatica?Ala-Kokko, L.271 dayssaveRefWorksSFX Info
Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotensionAla-Kokko, L.271 dayssaveRefWorksSFX Info
Common interleukin-6 promoter variants associate with the more severe forms of distal interphalangeal osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseasesAla-Kokko, L.271 dayssaveRefWorksSFX Info
Trimerization of collagen IX alpha-chains does not require the presence of the COL1 and NC1 domainsAla-Kokko, L.271 dayssaveRefWorksSFX Info
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndromeAla-Kokko, L.271 dayssaveRefWorksSFX Info
Association between the aggrecan gene variable number of tandem repeats polymorphism and intervertebral disc degenerationAla-Kokko, L.271 dayssaveRefWorksSFX Info
Analysis of an ascidian integrin provides new insight into early evolution of collagen recognitionAla-Kokko, L.271 dayssaveRefWorksSFX Info
Occupational and genetic risk factors associated with intervertebral disc diseaseAla-Kokko, L.271 dayssaveRefWorksSFX Info
Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish populationAla-Kokko, L.271 dayssaveRefWorksSFX Info
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesAla-Kokko, L.271 dayssaveRefWorksSFX Info
Phenotypic and population differences in the association between CILP and lumbar disc diseaseAla-Kokko, L.271 dayssaveRefWorksSFX Info
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopiaAla-Kokko, L.271 dayssaveRefWorksSFX Info
Aggrecan core protein of a certain length is protective against hand osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 geneAla-Kokko, L.271 dayssaveRefWorksSFX Info
The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degenerationAla-Kokko, L.271 dayssaveRefWorksSFX Info
Altered integration of matrilin-3 into cartilage extracellular matrix in the absence of collagen IXAla-Kokko, L.271 dayssaveRefWorksSFX Info
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous familyAla-Kokko, L.271 dayssaveRefWorksSFX Info
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphismsAla-Kokko, L.271 dayssaveRefWorksSFX Info
The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritisAla-Kokko, L.271 dayssaveRefWorksSFX Info
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disordersAla-Kokko, L.271 dayssaveRefWorksSFX Info
Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVFAla-Kokko, L.271 dayssaveRefWorksSFX Info
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in childrenAla-Kokko, L.271 dayssaveRefWorksSFX Info
Genetic variations in IL6 associate with intervertebral disc disease characterized by sciaticaAla-Kokko, L.271 dayssaveRefWorksSFX Info
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