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

Year Number of Results
1965 1
1971 1
1972 1
1973 1
1974 2
1975 4
1976 3
1977 2
1979 5
1981 3
1982 5
1983 3
1984 1
1985 4
1986 2
1987 8
1988 7
1989 8
1990 8
1991 3
1992 9
1993 13
1994 10
1995 13
1996 10
1997 7
1998 12
1999 6
2000 13
2001 15
2002 16
2003 15
2004 11
2005 11
2006 16
2007 14
2008 21
2009 11
2010 19
2011 19
2012 15
2013 17
2014 17
2015 23
2016 24
2017 15
2018 31
2019 30
2020 39
2021 39
2022 39
2023 1
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564 results
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Page 1
Stickler Syndrome.
Robin NH, Moran RT, Ala-Kokko L. Robin NH, et al. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301479 Free Books & Documents. Review.
Pathogenic variants in one of six genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) have been associated with Stickler syndrome; because a few families with features of Stickler syndrome are not linked to any of these six loci, pathogenic varian …
Pathogenic variants in one of six genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) have been associated with Stickler synd
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Boothe M, Morris R, Robin N. Boothe M, et al. J Pers Med. 2020 Aug 27;10(3):105. doi: 10.3390/jpm10030105. J Pers Med. 2020. PMID: 32867104 Free PMC article. Review.
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. ...
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocul
Pierre Robin sequence: A comprehensive narrative review of the literature over time.
Giudice A, Barone S, Belhous K, Morice A, Soupre V, Bennardo F, Boddaert N, Vazquez MP, Abadie V, Picard A. Giudice A, et al. J Stomatol Oral Maxillofac Surg. 2018 Nov;119(5):419-428. doi: 10.1016/j.jormas.2018.05.002. Epub 2018 May 17. J Stomatol Oral Maxillofac Surg. 2018. PMID: 29777780 Review.
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. ...This review aims to summarize the principal features of PRS, analysing the different aspe …
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper ai …
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. ...
Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
Balikov DA, Jacobson A, Prasov L. Balikov DA, et al. Genes (Basel). 2021 Sep 11;12(9):1403. doi: 10.3390/genes12091403. Genes (Basel). 2021. PMID: 34573386 Free PMC article. Review.
Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. ...The genetics, ocular and systemic features, and current and future treatment …
Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus …
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. SUMMARY: Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. ...Common …
Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. SUMMAR …
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 …
This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 c …
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.
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.
Al Kaissi A, Klaushofer K, Grill F. Al Kaissi A, et al. Pediatr Rheumatol Online J. 2009 Feb 4;7:4. doi: 10.1186/1546-0096-7-4. Pediatr Rheumatol Online J. 2009. PMID: 19193224 Free PMC article.
PURPOSE: Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. ...Magnetic resonance imaging may allow early prediction of articular lesion healing potential in …
PURPOSE: Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised a …
564 results