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

Text availability

Article attribute

Article type

Publication date

Search Results

173 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Among authors: van duinen sg. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: van duinen sg. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
Prognostic parameters in uveal melanoma and their association with BAP1 expression.
van Essen TH, van Pelt SI, Versluis M, Bronkhorst IH, van Duinen SG, Marinkovic M, Kroes WG, Ruivenkamp CA, Shukla S, de Klein A, Kiliç E, Harbour JW, Luyten GP, van der Velden PA, Verdijk RM, Jager MJ. van Essen TH, et al. Among authors: van der velden pa, van duinen sg, van pelt si. Br J Ophthalmol. 2014 Dec;98(12):1738-43. doi: 10.1136/bjophthalmol-2014-305047. Epub 2014 Aug 21. Br J Ophthalmol. 2014. PMID: 25147369 Free PMC article.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: van duinen sg. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
Neurofibromas in LZTR1 schwannomatosis.
Groen JL, Moghadasi S, Spruijt L, Korpershoek E, van Ierland Y, van Wezel JT, van Duinen S, Malessy MJA, Lesnik Oberstein SAJ. Groen JL, et al. Clin Genet. 2022 May;101(5-6):571-572. doi: 10.1111/cge.14121. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35178712 No abstract available.
Fuchs' adenoma of the choroid simulating a choroidal hemangioma.
Razzaq L, Marinkovic M, Swart W, van Duinen SG, Keunen JE, Luyten GP. Razzaq L, et al. Among authors: van duinen sg. Case Rep Ophthalmol. 2012 Jan;3(1):83-6. doi: 10.1159/000336989. Epub 2012 Mar 7. Case Rep Ophthalmol. 2012. PMID: 22529807 Free PMC article.
173 results