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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Khan AO, et al. Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5. Mol Genet Genomic Med. 2021. PMID: 33951325 Free PMC article.
METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome type collagenopathy by a single ophthalmologist and able to complete genetic testing for this possibility. ...Biallelic mutations in …
METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome …
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.
Freddi S, Savarirayan R, Bateman JF. Freddi S, et al. Am J Med Genet. 2000 Feb 28;90(5):398-406. Am J Med Genet. 2000. PMID: 10706362
We have developed a novel strategy for screening families with type 1 Stickler syndrome due to COL2A1 nonsense mutations, using a modified RNA-based protein truncation test. ...Mutant mRNA was undetectable without cycloheximide protection, demonstrating that …
We have developed a novel strategy for screening families with type 1 Stickler syndrome due to COL2A1 nonsense mutation …
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.
Chen C, Huang S, Sun L, Li S, Huang L, Wang Z, Luo X, Ding X. Chen C, et al. Am J Ophthalmol. 2020 Oct;218:330-336. doi: 10.1016/j.ajo.2020.02.015. Epub 2020 Feb 27. Am J Ophthalmol. 2020. PMID: 32112773
The etiology of RRD was analyzed. RESULTS: The average age was 12.2 4.5 years (range, 1-18 years). The percentages of male and female patients were 74.5% (76/102) and 25.5% (26/102), respectively. ...
The etiology of RRD was analyzed. RESULTS: The average age was 12.2 4.5 years (range, 1-18 years). The percentages of male and female …
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR. Zechi-Ceide RM, et al. Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9. Eur J Med Genet. 2008. PMID: 18276201
We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagn …
We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 un …