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2004 1
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2023 3
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Page 1
Czech Dysplasia Masquerading as Juvenile Idiopathic Arthritis.
Bouchard M, Mattioli-Lewis T, Czerniecki S, Shenoi S, Goldberg MJ. Bouchard M, et al. J Clin Rheumatol. 2021 Jun 1;27(4):e149-e153. doi: 10.1097/RHU.0000000000000912. J Clin Rheumatol. 2021. PMID: 30363003 No abstract available.
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.
Moreira LA, Carvalho DR, Santos SCL, Silva CCE, Ferreira BSA, Cunha BMD, Silveira KC, Lacarrubba-Flores MDJ, Cavalcanti DP, Mota LMHD. Moreira LA, et al. Mod Rheumatol. 2023 Jul 19:road070. doi: 10.1093/mr/road070. Online ahead of print. Mod Rheumatol. 2023. PMID: 37489771
OBJECTIVE: This study reported a family with most members affected by Czech dysplasia. We examined the patients' clinical, laboratory, and imaging characteristics and evaluated their functional capacity using the Stanford Health Assessment Questionnaire-Disability I …
OBJECTIVE: This study reported a family with most members affected by Czech dysplasia. We examined the patients' clinical, lab …
Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p....These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic f …
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p....These n …
Czech dysplasia metatarsal type.
Kozlowski K, Marik I, Marikova O, Zemkova D, Kuklik M. Kozlowski K, et al. Am J Med Genet A. 2004 Aug 15;129A(1):87-91. doi: 10.1002/ajmg.a.30132. Am J Med Genet A. 2004. PMID: 15266623
It seems that this disorder is quite a common constitutional bone disorder in this country. We propose the name of Czech Dysplasia Metatarsal Type for this unique disease....
It seems that this disorder is quite a common constitutional bone disorder in this country. We propose the name of Czech Dysplasia …
Czech dysplasia metatarsal type: another type II collagen disorder.
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Hoornaert KP, et al. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726487
Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. ...The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recent …
Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive s …
Czech dysplasia: report of a large family and further delineation of the phenotype.
Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Tzschach A, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389. Am J Med Genet A. 2008. PMID: 18553548
Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. We report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Hearing loss has …
Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 ge …
Czech dysplasia occurring in a Japanese family.
Matsui Y, Michigami T, Tachikawa K, Yamazaki M, Kawabata H, Nishimura G. Matsui Y, et al. Am J Med Genet A. 2009 Oct;149A(10):2285-9. doi: 10.1002/ajmg.a.33010. Am J Med Genet A. 2009. PMID: 19764028
Czech dysplasia (OMIM 609162) is a recently established COL2A1 disorder characterized by normal height, early-onset osteoarthritis, platyspondyly, short metatarsals, and the absence of ophthalmological complications or cleft palate. ...In conclusion, this report pro …
Czech dysplasia (OMIM 609162) is a recently established COL2A1 disorder characterized by normal height, early-onset osteoarthr …
Early childhood presentation of Czech dysplasia.
Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Burrage LC, et al. Clin Dysmorphol. 2013 Apr;22(2):76-80. doi: 10.1097/MCD.0b013e32835fff39. Clin Dysmorphol. 2013. PMID: 23448908 Free PMC article.
Czech dysplasia, metatarsal type is an autosomal dominant skeletal disorder that is characterized by early-onset, progressive arthritis, brachydactyly of the 3(rd) and 4(th) toes, and characteristic radiographic findings in patients of normal stature. …
Czech dysplasia, metatarsal type is an autosomal dominant skeletal disorder that is characterized by early-onset …
Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
Zhao M, Zhang R, Chang C, Jin Y, Xu L, Guo S, Schrodi S, He Y, He D. Zhao M, et al. Front Med (Lausanne). 2023 Nov 2;10:1244888. doi: 10.3389/fmed.2023.1244888. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38020103 Free PMC article.
CASE SUMMARY: We present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the COL2A1 gene. ...CONCLUSION: This study is a thorough clinical and physiological description of Czech dysplasia in a Chinese patie …
CASE SUMMARY: We present the case of a Chinese woman diagnosed with Czech dysplasia (proband) who carried a variant in the COL …
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.
(Arg275Cys) substitution is found in all patients with COL2A1-associated Czech dysplasia. LOVD-COL2A1 provides support and potential collaborative material for scientific and clinical projects aimed at elucidating phenotype-genotype correlation and differential diag …
(Arg275Cys) substitution is found in all patients with COL2A1-associated Czech dysplasia. LOVD-COL2A1 provides support and pot …
11 results