Pages that link to "Q41787758"
Jump to navigation
Jump to search
The following pages link to The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen (Q41787758):
Displaying 50 items.
- Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes (Q22010382) (← links)
- Advances in Skeletal Dysplasia Genetics (Q28261525) (← links)
- Abnormal craniofacial growth and early mandibular osteoarthritis in mice harbouring a mutant type II collagen transgene (Q28593947) (← links)
- Construction of a Full-Length Murine Proα2(I) Collagen cDNA by the Polymerase Chain Reaction (Q33284048) (← links)
- Genetics of osteoarthritis (Q33579265) (← links)
- Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia (Q33592204) (← links)
- Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (Q33592936) (← links)
- The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen (Q33863836) (← links)
- Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous (Q33596248) (← links)
- Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome (Q33597171) (← links)
- A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis (Q33823848) (← links)
- Diastrophic dysplasia gene maps to the distal long arm of chromosome 5 (Q33848087) (← links)
- An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints (Q34169901) (← links)
- The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. (Q34172461) (← links)
- Evidence that a locus for familial high myopia maps to chromosome 18p (Q34386102) (← links)
- Genetics and hearing loss: a review of Stickler syndrome (Q34475762) (← links)
- Molecular genetics of rhegmatogenous retinal detachment (Q34724395) (← links)
- The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1 (Q34777036) (← links)
- A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon (Q35194255) (← links)
- Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy (Q35194553) (← links)
- A single-gene explanation for the probability of having idiopathic talipes equinovarus (Q35194817) (← links)
- Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1 (Q35196445) (← links)
- Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI) (Q35197808) (← links)
- The genetics of deafness (Q35625762) (← links)
- Genetic counseling for patients with birth defects (Q38632761) (← links)
- Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development. (Q36235140) (← links)
- Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain (Q36531554) (← links)
- Genome scan for teratogen-induced clefting susceptibility loci in the mouse: evidence of both allelic and locus heterogeneity distinguishing cleft lip and cleft palate (Q36769790) (← links)
- Prophylactic laser photocoagulation in Stickler syndrome (Q36852545) (← links)
- The genetics of osteoarthritis (Q37219851) (← links)
- Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy) (Q37557996) (← links)
- Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia (Q37585875) (← links)
- Clinical screening for collagen defects in connective tissue diseases. (Q38031844) (← links)
- Expression of extracellular matrix proteins fibulin-1 and fibulin-2 by human corneal fibroblasts (Q38300270) (← links)
- Molecular heterogeneity in chondrodysplasias (Q38656054) (← links)
- Molecular pathobiology of human collagens (Q38748952) (← links)
- Duke-Elder lecture. Prevention and perspective in retinal detachment (Q38777277) (← links)
- Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. (Q40575361) (← links)
- Type II collagen mutations in rare and common cartilage diseases (Q40668214) (← links)
- Hereditary vitreopathy (Q41416238) (← links)
- Synthesis of recombinant human procollagen II in a stably transfected tumour cell line (HT1080). (Q41487150) (← links)
- Structural analyses of the polymorphic area in type II collagen gene (Q41773415) (← links)
- Of mice and men: heritable skeletal disorders (Q42559546) (← links)
- Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse (Q42798362) (← links)
- Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens (Q42802724) (← links)
- Expression of a human cartilage procollagen gene (COL2A1) in mouse 3T3 cells (Q42827186) (← links)
- Linkage disequilibrium between two restriction sites in the COL2A1 gene. (Q43145347) (← links)
- Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report (Q43245528) (← links)
- Congenital myopia in Stickler's hereditary arthro-ophthalmopathy. (Q44466623) (← links)
- Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene (Q48082300) (← links)