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Last Posted: Jan 27, 2024

• Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
  Yi Jiang, et al. Journal of translational medicine 2024 0 (1) 75
• LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.
  Magliyah Moustafa S, et al. Retina (Philadelphia, Pa.) 2023 0 (3) 498-505
• Mutation survey in Taiwanese patients with Stickler syndrome.
  Huang Faye, et al. Taiwan journal of ophthalmology 2023 0 (4) 423-429
• Stickler syndrome in children: a radiological review.
  McArthur N, et al. Clinical radiology 2018 0 (7) 678.e13-678.e18
• Electroretinograms of eyes with Stickler syndrome.
  Kondo Hiroyuki, et al. Documenta ophthalmologica. Advances in ophthalmology 2019 0 (3) 233-243
• Comprehensive analysis of syndromic hearing loss patients in Japan.
  Ideura Michie, et al. Scientific reports 2019 0 (1) 11976
• High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.
  Rossenwasser-Weiss Shirel, et al. Current eye research 2020 0 (7) 1051-1055
• Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
  Huang Li, et al. Genes 2020 0 (8)
• Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
  Choi Soon-Il, et al. Genes 2021 0 (10)
• Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice.
  Szymko-Bennett Yvonne M, et al. Hearing research 2003 0 (1-2) 178-82
• The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
  Liberfarb Ruth M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2003 0 (1) 21-7
• Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
  Wang Dan-Dan, et al. BMC medical genetics 2020 2 (1) 27
• Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
  Wang Dan-Dan et al. Acta ophthalmologica 2019 Nov
• Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
  Wang Xun, et al. Molecular vision 2016 0 697-704
• Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
  Yang Lulu et al. BMC medical genetics 2018 19(1) 212
• Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
  Spickett Carl, et al. Human mutation 2016 7
• Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
  Acke Frederic R, et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 1
• Ophthalmic and molecular genetic findings in Kniest dysplasia.
  Sergouniotis P I, et al. Eye (London, England) 2015 4 (4) 475-82
• Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.
  Niida Yo, et al. Molecular genetics and metabolism 2012 11 (3) 580-5
• Stickler syndrome
  From NCATS Genetic and Rare Diseases Information Center
• Stickler syndrome type 1
  From NCATS Genetic and Rare Diseases Information Center
• Stickler syndrome, type 2
  From NCATS Genetic and Rare Diseases Information Center
• Stickler syndrome, type 3
  From NCATS Genetic and Rare Diseases Information Center
• Host genetic and epigenetic factors in toxoplasmosis.
  Jamieson Sarra E, et al. Memórias do Instituto Oswaldo Cruz 2009 3 (2) 162-9