Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1996 1
1998 1
2003 1
2008 1
2010 1
2011 1
2014 1
2015 2
2016 2
2018 2
2019 1
2020 1
2021 3
2022 1
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Stickler syndrome, type 4"
Page 1
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Asano M, Yokoyama K, Oku K, Matsushita I, Kimoto K, Kubota T, Kondo H. Asano M, et al. Ophthalmic Genet. 2022 Aug;43(4):508-512. doi: 10.1080/13816810.2022.2068044. Epub 2022 Apr 26. Ophthalmic Genet. 2022. PMID: 35473494
BACKGROUND: The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. ...A correlation of the OCT and FAF images with the genotype is helpful in determining the prognosis of Sti …
BACKGROUND: The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutati …
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.
Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP. Zimmermann J, et al. Anesth Analg. 2021 Jan;132(1):202-209. doi: 10.1213/ANE.0000000000004582. Anesth Analg. 2021. PMID: 31856005 Free PMC article.
BACKGROUND: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment repair. ...METHODS: We retrospectively identified patients with genetically confirmed Stickler s …
BACKGROUND: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, …
Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Wang DD, Gao FJ, Hu FY, Li JK, Zhang SH, Xu P, Chang Q, Jiang R, Wu JH. Wang DD, et al. Acta Ophthalmol. 2020 Jun;98(4):e440-e446. doi: 10.1111/aos.14302. Epub 2019 Nov 17. Acta Ophthalmol. 2020. PMID: 31736238 Free article.
PURPOSE: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at present. ...
PURPOSE: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum …
Stickler syndrome. Epidemiology of retinal detachment.
Vilaplana F, Muiños SJ, Nadal J, Elizalde J, Mojal S. Vilaplana F, et al. Arch Soc Esp Oftalmol. 2015 Jun;90(6):264-8. doi: 10.1016/j.oftal.2014.11.001. Epub 2015 Mar 25. Arch Soc Esp Oftalmol. 2015. PMID: 25817961 English, Spanish.
OBJECTIVE: A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diagnosed, in order to evaluate the risk of suffering a retinal detachment (RD). ...CONCLUSION: In the series presented, retinal detachment in …
OBJECTIVE: A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diag …
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.
Couchouron T, Masson C. Couchouron T, et al. Joint Bone Spine. 2011 Jan;78(1):45-9. doi: 10.1016/j.jbspin.2010.03.012. Epub 2010 May 11. Joint Bone Spine. 2011. PMID: 20462780 Review.
Stickler syndrome is a group of rare genetic conditions (incidence, 1/7500 births) related to mutations in the collagen genes. ...The main manifestations are craniofacial birth defects, bone and joint symptoms, ocular abnormalities, and hearing loss. Stickler …
Stickler syndrome is a group of rare genetic conditions (incidence, 1/7500 births) related to mutations in the collagen genes. …
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q. Jiang Y, et al. J Transl Med. 2024 Jan 19;22(1):75. doi: 10.1186/s12967-024-04886-5. J Transl Med. 2024. PMID: 38243264 Free PMC article.
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7 …
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler …
ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.
Fujimoto K, Nagata T, Matsushita I, Oku K, Imagawa M, Kuniyoshi K, Hayashi T, Kimoto K, Ohji M, Kusaka S, Kondo H. Fujimoto K, et al. Retina. 2021 Mar 1;41(3):638-645. doi: 10.1097/IAE.0000000000002879. Retina. 2021. PMID: 32639332 Free PMC article.
PURPOSE: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndrome using ultra-widefield FAF images. METHODS: Forty-six eyes of 26 patients with mutations in the COL2A1 gene underwent ultra-widefield …
PURPOSE: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndr …
Window of Susceptibility to Acute Otitis Media Infection.
Bajorski P, Fuji N, Kaur R, Pichichero ME. Bajorski P, et al. Pediatrics. 2023 Feb 1;151(2):e2022058556. doi: 10.1542/peds.2022-058556. Pediatrics. 2023. PMID: 36618001 Free PMC article.
Significant predictors were child age at the first AOM (P < .001) and daycare attendance (P = .03). ...CONCLUSIONS: Recurrent AOM occurs in a narrow WOS and number of AOMs can be predicted at time of AOM based on child age and daycare attendance. ...

Significant predictors were child age at the first AOM (P < .001) and daycare attendance (P = .03). ...CONCLUSIONS: Recurrent AOM

…
Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome.
Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR. Mingo KM, et al. JAMA Facial Plast Surg. 2016 Mar-Apr;18(2):95-100. doi: 10.1001/jamafacial.2015.1658. JAMA Facial Plast Surg. 2016. PMID: 26540157
Fifty-two patients fit the inclusion criteria of isolated Pierre Robin sequence or Stickler syndrome, of being younger than 9 months at the time of distraction, and of use of external distractors. ...CONCLUSIONS AND RELEVANCE: This series suggests that the absence o …
Fifty-two patients fit the inclusion criteria of isolated Pierre Robin sequence or Stickler syndrome, of being younger than 9 …
Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q. Zhou L, et al. Mol Vis. 2018 Aug 10;24:560-573. eCollection 2018. Mol Vis. 2018. PMID: 30181686 Free PMC article.
Why were the probands initially considered to have eoHM but not Stickler syndrome (STL)? METHODS: Probands and family members with eoHM and mutations in COL2A1 or COL11A1 were followed up and reexamined based on the criteria for STL. ...
Why were the probands initially considered to have eoHM but not Stickler syndrome (STL)? METHODS: Probands and family members …
19 results