Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
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A. Green | I. Kaitila | R. Hennekam | G. Mortier | T. Rosenberg | C. Hoyng | J. Morton | M. Lees | A. Paepe | H. Dollfus | M. McEntagart | F. Beemer | M. Bonduelle | S. Smithson | L. Zelante | V. Cormier-Daire | M. Buyzere | P. Coucke | C. Marcelis | D. Josifova | M. Mathieu | B. Leroy | R. Žordania | M. Holder | K. Lagerstedt | J. Leroy | L. Bendix | Y. Bever | K. Temple | O. Boute | K. Jones | L. Martorell | O. Reish | A. Dieux-Coeslier | C. Magnani | E. Björck | K. Hoornaert | M. Elting | K. Simola | E. Aken | Gabrielli Orazio | J. Ende | J. V. Hagen | Y. Kroes | C. Die-Smulders | V. Guerci | A. Mendicino | M. Lemerrer | V. Paquis | I. Vereecke | C. Dewinter | Yvonne Hilhorts-Hofstee | S. Kjaergaard | J. Hagen | G. Orazio | Kristien P. Hoornaert | Chantal Dewinter | C. D. Die-Smulders
[1] M. Passos-Bueno,et al. Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. , 2008, European journal of medical genetics.
[2] L. Ala‐Kokko,et al. Missense and nonsense mutations in the alternatively‐spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome , 2008, Human mutation.
[3] John D. Scott,et al. Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms , 2007, Human mutation.
[4] K. Devriendt,et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies , 2007, American journal of medical genetics. Part A.
[5] J. van den Ende,et al. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. , 2006, American journal of human genetics.
[6] J. Whittaker,et al. High efficiency of mutation detection in type 1 stickler syndrome using a two‐stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 , 2006, Human mutation.
[7] G. Mortier,et al. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene , 2005, Journal of Medical Genetics.
[8] G. Mortier,et al. Dominant negative mutations in the C‐propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies , 2005, American journal of medical genetics. Part A.
[9] C. Kielty,et al. The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix , 2003 .
[10] A. Edwards,et al. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. , 2003, Survey of ophthalmology.
[11] R. Hofstra,et al. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome , 2002, Human mutation.
[12] P. Byers,et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. , 2002, American journal of human genetics.
[13] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.
[14] M. Hentze,et al. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway , 2002, Genome Biology.
[15] P. Oefner,et al. Denaturing high‐performance liquid chromatography: A review , 2001, Human mutation.
[16] G. Stickler,et al. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey , 2001, Genetics in medicine : official journal of the American College of Medical Genetics.
[17] P. Harper,et al. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. , 2000, American journal of human genetics.
[18] J. Yates,et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes , 2000, The British journal of ophthalmology.
[19] P. Byers,et al. 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. , 1999, American journal of human genetics.
[20] J. Yates,et al. Clinical and molecular genetics of Stickler syndrome , 1999, Journal of medical genetics.
[21] A. Laupacis,et al. Clinical prediction rules. A review and suggested modifications of methodological standards. , 1997, JAMA.
[22] J. Yates,et al. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. , 1996, Human molecular genetics.
[23] F. Harrell,et al. Prognostic/Clinical Prediction Models: Multivariable Prognostic Models: Issues in Developing Models, Evaluating Assumptions and Adequacy, and Measuring and Reducing Errors , 2005 .
[24] D. Rimoin,et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type , 1995, Nature Genetics.
[25] K. Cheah,et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus , 1995, Cell.
[26] D. Rimoin,et al. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. , 1994, Human molecular genetics.
[27] A. Winterpacht,et al. The type II collagenopathies: A spectrum of chondrodysplasias , 1994, European Journal of Pediatrics.
[28] D J Prockop,et al. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[29] W. Tasman,et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[30] T. Sekiya,et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[31] D J Spiegelhalter,et al. Probabilistic prediction in patient management and clinical trials. , 1986, Statistics in medicine.
[32] Steinberg Ag,et al. Hereditary progressive arthro-ophthalmopathy , 1965 .
[33] F. J. Farrell,et al. HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. , 1965, Mayo Clinic proceedings.