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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 4
2012 1
2013 1
2014 1
2015 1
2017 2
2018 2
2019 4
2020 1
2022 4
2023 2
2024 1

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21 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.
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 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.
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.
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.
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.
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.
CONCLUSIONS: In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. .. …
CONCLUSIONS: In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome …
21 results