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
2000 1
2008 1
2009 1
2010 1
2018 3
2020 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Three cases of molecularly confirmed Knobloch syndrome.
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M. Balikova I, et al. Ophthalmic Genet. 2020 Feb;41(1):83-87. doi: 10.1080/13816810.2020.1737948. Epub 2020 Mar 17. Ophthalmic Genet. 2020. PMID: 32178553
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
(Glu435Lys) variant that is located in the kinase domain of the protein predicts a possible compromise in the kinase activity. Functional analysis of the p....
(Glu435Lys) variant that is located in the kinase domain of the protein predicts a possible compromise in the kinase activity. Functi …
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.
Khan AO, Ghazi NG. Khan AO, et al. Ophthalmic Genet. 2018 Jun;39(3):321-324. doi: 10.1080/13816810.2018.1430245. Epub 2018 Feb 1. Ophthalmic Genet. 2018. PMID: 29388841
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal detachment repair. The three eyes (two children) without retinal detachment had a consistent unique optic nerve head appearance, with thin e …
Three had spontaneous retinal detachment (two bilateral and one unilateral) with complicated post-surgical courses following retinal …
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Sertié AL, et al. Hum Mol Genet. 2000 Aug 12;9(13):2051-8. doi: 10.1093/hmg/9.13.2051. Hum Mol Genet. 2000. PMID: 10942434
We identified a homozygous mutation at the AG consensus acceptor splice site of COL18A1 intron 1 exclusively among the 12 KS patients, which was not found among 140 control chromosomes. This mutation predicts the creation of a stop codon in exon 4 and therefore the truncat …
We identified a homozygous mutation at the AG consensus acceptor splice site of COL18A1 intron 1 exclusively among the 12 KS patients, which …
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E. Suri F, et al. Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256. Hum Mol Genet. 2018. PMID: 30007336
Results of linkage analysis, segregation analysis of 44 novel variations, whole exome sequencing of 10 individuals, screenings of controls and bioinformatics predictions identified a mutation in COL18A1 that encodes collagen type XVIII as the most likely cause of angle clo …
Results of linkage analysis, segregation analysis of 44 novel variations, whole exome sequencing of 10 individuals, screenings of controls a …
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis.
Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S. Kague E, et al. Dev Biol. 2010 Jan 15;337(2):496-505. doi: 10.1016/j.ydbio.2009.10.028. Epub 2009 Nov 3. Dev Biol. 2010. PMID: 19895802 Free article.
Additional post-hoc computational analysis on positive enhancer sequences revealed alignments between mammalian and teleost sequences, which we hypothesize predict the corresponding zebrafish enhancers; for one of these, we demonstrate functional overlap with the orthologo …
Additional post-hoc computational analysis on positive enhancer sequences revealed alignments between mammalian and teleost sequences, which …