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Page 1
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Al-Hussain H, et al. Am J Med Genet A. 2004 Jan 1;124A(1):28-34. doi: 10.1002/ajmg.a.20326. Am J Med Genet A. 2004. PMID: 14679583 Review.
The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility o …
The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture followin …
Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.
Incandela C, D'Oria F, Lapenna L, Acquaviva A. Incandela C, et al. Eur J Ophthalmol. 2024 Jan;34(1):11-17. doi: 10.1177/11206721231171426. Epub 2023 Apr 18. Eur J Ophthalmol. 2024. PMID: 37073081 Review.
A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal …
A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene t …
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Skalicka P, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun;164(2):183-188. doi: 10.5507/bp.2019.017. Epub 2019 Apr 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31025659 Free article. Review.
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background. ...Sequence variants in ZNF469 p …
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 …
Biological functions of iduronic acid in chondroitin/dermatan sulfate.
Thelin MA, Bartolini B, Axelsson J, Gustafsson R, Tykesson E, Pera E, Oldberg Å, Maccarana M, Malmstrom A. Thelin MA, et al. FEBS J. 2013 May;280(10):2431-46. doi: 10.1111/febs.12214. Epub 2013 Mar 28. FEBS J. 2013. PMID: 23441919 Free PMC article. Review.
Iduronic acid is formed by two epimerases (i.e. dermatan sulfate epimerase 1 and 2) that have different tissue distribution and properties. The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patient …
Iduronic acid is formed by two epimerases (i.e. dermatan sulfate epimerase 1 and 2) that have different tissue distribution and prope …
An Eye into the Aorta: The Role of Extracellular Matrix Regulatory Genes ZNF469 and PRDM5, from Their Previous Association with Brittle Cornea Syndrome to Their Novel Association with Aortic and Arterial Aneurysmal Diseases.
Moore P, Wolf A, Sathyamoorthy M. Moore P, et al. Int J Mol Sci. 2024 May 28;25(11):5848. doi: 10.3390/ijms25115848. Int J Mol Sci. 2024. PMID: 38892036 Free PMC article. Review.
The genes ZNF469 and PRDM5 each produce extracellular-matrix-related proteins that, when mutated, have been shown to result in the development of brittle cornea syndrome. This dysfunction results from aberrant protein function resulting in extracellular matri …
The genes ZNF469 and PRDM5 each produce extracellular-matrix-related proteins that, when mutated, have been shown to result in the developme …