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Year Number of Results
1975 1
1982 3
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1985 1
1987 2
1990 1
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1992 2
1993 3
1994 2
1995 2
1996 2
1998 1
1999 1
2000 4
2001 4
2002 2
2003 5
2004 3
2005 5
2006 2
2007 2
2008 7
2009 2
2010 3
2012 3
2013 1
2014 4
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2017 3
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2020 6
2021 9
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2023 8
2024 3

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108 results

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Page 1
Hypochondrogenesis.
Maroteaux P, Stanescu V, Stanescu R. Maroteaux P, et al. Eur J Pediatr. 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. Eur J Pediatr. 1983. PMID: 6641761
Three clinicopathological observations of a mild form of type II achondrogenesis are presented. ...The delay in vertebral ossification, the absence of all the epiphyseal nuclei and of the tarsal bones might suggest the diagnosis of hypochondrogenesis, rather than that of …
Three clinicopathological observations of a mild form of type II achondrogenesis are presented. ...The delay in vertebral ossificatio …
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM; Care4Rare Canada Consortium; Bober MB, Boycott KM, Murshed M. Gourgas O, et al. Nat Commun. 2023 Nov 3;14(1):7054. doi: 10.1038/s41467-023-41651-6. Nat Commun. 2023. PMID: 37923733 Free PMC article.
Heterozygous 'knock-in' mice expressing C19F MGP recapitulate most of the skeletal anomalies observed in the affected individuals. Our results suggest that the main underlying mechanism leading to the observed skeletal dysplasia is endoplasmic reticulum stress-induc …
Heterozygous 'knock-in' mice expressing C19F MGP recapitulate most of the skeletal anomalies observed in the affected individuals. Ou …
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W. Liu L, et al. Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Eur Spine J. 2016. PMID: 27059630 Review.
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessme …
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unr …
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Liang H, Hou Y, Pang Q, Jiang Y, Wang O, Li M, Xing X, Zhu H, Xia W. Liang H, et al. Calcif Tissue Int. 2022 Mar;110(3):313-323. doi: 10.1007/s00223-021-00920-6. Epub 2021 Oct 28. Calcif Tissue Int. 2022. PMID: 34709441
Clinical information for 14 probands was collected; DNA was extracted from blood for COMP variant detection. Clinical manifestations and radiology scoring systems were established to evaluate the severity of each patient's condition. ...As the two phenotypes overlap …
Clinical information for 14 probands was collected; DNA was extracted from blood for COMP variant detection. Clinical manifestations and rad …
Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia.
Greer SY, Bullion EA. Greer SY, et al. Int J Paleopathol. 2021 Sep;34:147-154. doi: 10.1016/j.ijpp.2021.06.009. Epub 2021 Jul 13. Int J Paleopathol. 2021. PMID: 34271408
RESULTS: Endochondrally derived skeletal elements in TBK Br8 were observed to be underdeveloped. Extensive proliferation of bone had invaded all but one observable joint, variably occluding most intervertebral foramina, the lumbar vertebral canal, and transverse for …
RESULTS: Endochondrally derived skeletal elements in TBK Br8 were observed to be underdeveloped. Extensive proliferation of bone had …
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. Radiographics. 2023. PMID: 37053103
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. ...The first step is the categorization of a given case into a …
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia …
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R. Rolvien T, et al. Osteoarthritis Cartilage. 2020 Mar;28(3):334-343. doi: 10.1016/j.joca.2019.12.011. Epub 2020 Jan 17. Osteoarthritis Cartilage. 2020. PMID: 31958497 Free article.
OBJECTIVE: Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, can be a result of mutations in the collagen, type II, alpha 1 (COL2A1) gene. ...RESULTS: We identified a dominant COL2A1 mutation (c.620G &g …
OBJECTIVE: Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, c …
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Cao Y, Guan X, Li S, Wu N, Chen X, Yang T, Yang B, Zhao X. Cao Y, et al. Mol Genet Genomic Med. 2022 May;10(5):e1916. doi: 10.1002/mgg3.1916. Epub 2022 Mar 9. Mol Genet Genomic Med. 2022. PMID: 35261200 Free PMC article.
Pathogenicity was assessed by conservation analysis, 3D protein modeling and in silico prediction, and was confirmed according to American College of Medical Genetics and Genomics. ...
Pathogenicity was assessed by conservation analysis, 3D protein modeling and in silico prediction, and was confirmed according to Ame …
Spondylometepiphyseal dysplasia, Strudwick type.
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL. Anderson CE, et al. Am J Med Genet. 1982 Nov;13(3):243-56. doi: 10.1002/ajmg.1320130304. Am J Med Genet. 1982. PMID: 6817637
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous gro …
The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observati …
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB. Travessa AM, et al. Am J Med Genet A. 2020 Nov;182(11):2715-2721. doi: 10.1002/ajmg.a.61817. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856782
Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. ...This variant has not been previously associated with SED-S, but was reported in two other families with spondyloepiphyseal dysplasia. Thus, this case expands t …
Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. ...This variant has not been previou …
108 results