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Year Number of Results
2010 1
2011 4
2012 1
2013 1
2014 1
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2019 4
2020 1
2022 4
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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.
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominan …
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal …
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. ...Cleft palate is associated with type XI collagen variants, as well as the non-collagen genes, but is so far unreported with type IX collagen v …
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. ...Cleft palate is …
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. .. …
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. ... …
Legg-Calve-Perthes' disease: an opportunity to prevent blindness?
Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M. Wang A, et al. Arch Dis Child. 2023 Oct;108(10):789-791. doi: 10.1136/archdischild-2022-325059. Epub 2023 Mar 7. Arch Dis Child. 2023. PMID: 36882306 Review.
In this paper, we compare the two conditions and present a case series of 19 patients with genetically confirmed type 1 Stickler syndrome presenting with a historic diagnosis of LCP. In contrast to isolated LCP, children with type 1 St …
In this paper, we compare the two conditions and present a case series of 19 patients with genetically confirmed type 1 Sti …
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.
RESULTS: Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. The findings were reviewed in the light of each patient's specific genetic Stickler syndrome subtype. ...This would support t …
RESULTS: Radiological features were noted in 45.9% of knee radiographs, 11.1% of pelvic radiographs, and 42.6% of spinal radiographs. …
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 …
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. Higuchi Y, et al. J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. J Med Case Rep. 2017. PMID: 28841907 Free PMC article. Review.
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. ...CONCLUSIONS: In this case report, we identify a novel misse …
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a …
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 …
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
Laurentino TS, Soares RDS, Marie SKN, Oba-Shinjo SM. Laurentino TS, et al. Int J Mol Sci. 2019 Jul 23;20(14):3587. doi: 10.3390/ijms20143587. Int J Mol Sci. 2019. PMID: 31340433 Free PMC article. Review.
Autosomal recessive mutations are rare and described in patients with Stickler syndrome, early-onset myopia and non-syndromic cleft palate. ...Additionally, various novel roles have been described for LOXL3, such as the oxidation of fibronectin in myotendinous junct …
Autosomal recessive mutations are rare and described in patients with Stickler syndrome, early-onset myopia and non-syndromic …
20 results