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Year Number of Results
1991 1
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Page 1
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B, Zhang Y, Wu N, Li J, Liu H, Wang J. Zhang B, et al. Clin Genet. 2020 Mar;97(3):383-395. doi: 10.1111/cge.13680. Epub 2019 Dec 6. Clin Genet. 2020. PMID: 31758797 Review.
The COL2A1 gene encodes the alpha-1 chain of type II procollagen. Type II collagen, comprised of three identical alpha-1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II
The COL2A1 gene encodes the alpha-1 chain of type II procollagen. Type II collagen, comprised of three identical …
Skeletal dysplasias.
Krakow D. Krakow D. Clin Perinatol. 2015 Jun;42(2):301-19, viii. doi: 10.1016/j.clp.2015.03.003. Epub 2015 Apr 8. Clin Perinatol. 2015. PMID: 26042906 Free PMC article. Review.
Prenatal diagnosis of bone dysplasias.
Nishimura G, Handa A, Miyazaki O, Tsujioka Y, Murotsuki J, Sawai H, Yamada T, Kozuma Y, Takahashi Y, Ozawa K, Pooh R, Sase M. Nishimura G, et al. Br J Radiol. 2023 Jul;96(1147):20221025. doi: 10.1259/bjr.20221025. Br J Radiol. 2023. PMID: 37351952 Review.
However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and type II collagenopathies. The recent development of non-invasive prenatal genetic testing using cell-free fetal DNA …
However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, a …
The type XI collagenopathies.
Spranger J. Spranger J. Pediatr Radiol. 1998 Oct;28(10):745-50. doi: 10.1007/s002470050459. Pediatr Radiol. 1998. PMID: 9799295 Review.
The pattern of clinical and radiographic changes is also found in some type II collagenopathies. On the basis of molecular studies, three type XI collagenopathies have been defined: Stickler syndrome type II, and dominant and reces …
The pattern of clinical and radiographic changes is also found in some type II collagenopathies. On the basis of molecu …
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Barat-Houari M, et al. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Hum Mutat. 2016. PMID: 26443184 Review.
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutations resulting in a premature stop codon are found in less severe phenotypes such as Stickler syndrome. ...LOVD-COL2A1 provides support and p …
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutati …
Molecular genetics of the COL2A1-related disorders.
Deng H, Huang X, Yuan L. Deng H, et al. Mutat Res Rev Mutat Res. 2016 Apr-Jun;768:1-13. doi: 10.1016/j.mrrev.2016.02.003. Epub 2016 Mar 2. Mutat Res Rev Mutat Res. 2016. PMID: 27234559 Review.
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, a
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Eur J Pediatr. 1994. PMID: 8157027 Review.
Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondro …
Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinic …
Genetic and orthopedic aspects of collagen disorders.
Carter EM, Raggio CL. Carter EM, et al. Curr Opin Pediatr. 2009 Feb;21(1):46-54. doi: 10.1097/mop.0b013e32832185c5. Curr Opin Pediatr. 2009. PMID: 19253462 Review.
Accordingly, abnormality in the various collagens produces a large category of diseases with heterogeneous symptoms. This review presents genetic and orthopedic aspects of type II, IX, and XI collagen disorders. RECENT FINDINGS: Although a diverse group of condition …
Accordingly, abnormality in the various collagens produces a large category of diseases with heterogeneous symptoms. This review presents ge …
Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
Husar-Memmer E, Ekici A, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J. Husar-Memmer E, et al. Semin Arthritis Rheum. 2013 Feb;42(4):355-60. doi: 10.1016/j.semarthrit.2012.05.002. Epub 2012 Jun 19. Semin Arthritis Rheum. 2013. PMID: 22717203 Review.
Reviewing the literature, we discuss the clinical spectrum of type II collagenopathies emphasizing premature OA as the sole clinical manifestation. CONCLUSIONS: Unusual clinical presentations of OA should prompt investigations to search for an underlying caus …
Reviewing the literature, we discuss the clinical spectrum of type II collagenopathies emphasizing premature OA as the …
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.
Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ. Snead MP, et al. Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Eye (Lond). 2011. PMID: 21921955 Free PMC article. Review.
The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the mos …
The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently be …
16 results