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59 results

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Page 1
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP. Soh Z, et al. Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089. Genes (Basel). 2022. PMID: 35741851 Free PMC article. Review.
This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more us …
This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 causing …
Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP. Nixon TRW, et al. Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135. Genes (Basel). 2022. PMID: 35885918 Free PMC article. Review.
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. ...
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. ...
Clefting syndromes.
Drew SJ. Drew SJ. Atlas Oral Maxillofac Surg Clin North Am. 2014 Sep;22(2):175-81. doi: 10.1016/j.cxom.2014.05.001. Atlas Oral Maxillofac Surg Clin North Am. 2014. PMID: 25171998 Review. No abstract available.
Stickler syndrome in children: a radiological review.
McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP. McArthur N, et al. Clin Radiol. 2018 Jul;73(7):678.e13-678.e18. doi: 10.1016/j.crad.2018.03.004. Epub 2018 Apr 13. Clin Radiol. 2018. PMID: 29661559 Review.
AIM: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. ...This would support the more recent findings of an array of ocular only phenotypes o …
AIM: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with …
Hereditary vitreopathy.
Snead MP. Snead MP. Eye (Lond). 1996;10 ( Pt 6):653-63. doi: 10.1038/eye.1996.158. Eye (Lond). 1996. PMID: 9091360 Review.
A recent report identifies the COL11A2 mutation in a Dutch pedigree with systemic features of Stickler syndrome but without ocular involvement. Others have implicated COL11A1 in a type 2 Stickler syndrome pedigree with ocular abnormalities. ...This wou …
A recent report identifies the COL11A2 mutation in a Dutch pedigree with systemic features of Stickler syndrome but without oc …
Hearing Loss in Stickler Syndrome: An Update.
Acke FRE, De Leenheer EMR. Acke FRE, et al. Genes (Basel). 2022 Sep 1;13(9):1571. doi: 10.3390/genes13091571. Genes (Basel). 2022. PMID: 36140739 Free PMC article. Review.
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. ...Hearing loss in the rarer types of Stickler syndrome depends on the gene expression in the cochlea, with moderate to severe d …
Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. .. …
Prevention of Blindness in Stickler Syndrome.
Alexander P, Snead MP. Alexander P, et al. Genes (Basel). 2022 Jun 26;13(7):1150. doi: 10.3390/genes13071150. Genes (Basel). 2022. PMID: 35885933 Free PMC article. Review.
The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, ou …
The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the …
Genetics and hearing loss: a review of Stickler syndrome.
Nowak CB. Nowak CB. J Commun Disord. 1998 Sep-Oct;31(5):437-53; 453-4. doi: 10.1016/s0021-9924(98)00015-x. J Commun Disord. 1998. PMID: 9777489 Review.
Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and spee …
Stickler syndrome is an autosomal dominant multisystem disease. The four most affected systems are craniofacial, skeletal, ocu …
Stickler syndrome: exploring prophylaxis for retinal detachment.
Coussa RG, Sears J, Traboulsi EI. Coussa RG, et al. Curr Opin Ophthalmol. 2019 Sep;30(5):306-313. doi: 10.1097/ICU.0000000000000599. Curr Opin Ophthalmol. 2019. PMID: 31313752 Review.
Stickler syndrome is probably the most common cause of genetically determined pediatric rhegmatogenous retinal detachment. ...The majority are caused by hereditary vitreoretinopathies associated with Stickler syndrome. Sixty percent of patients with …
Stickler syndrome is probably the most common cause of genetically determined pediatric rhegmatogenous retinal detachment. ... …
Hearing impairment in Stickler syndrome: a systematic review.
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Acke FR, et al. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Orphanet J Rare Dis. 2012. PMID: 23110709 Free PMC article. Review.
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 an …
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defect …
59 results