Diness BR - Search Results

1

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum.

Luyckx I, Bolar N, Diness BR, Hove HB, Verstraeten A, Loeys BL. Luyckx I, et al. Among authors: diness br. Eur J Med Genet. 2019 Feb;62(2):96. doi: 10.1016/j.ejmg.2018.06.008. Epub 2018 Jun 12. Eur J Med Genet. 2019. PMID: 29906517 No abstract available.

2

A complex phenotype in a family with a pathogenic SOX3 missense variant.

Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H. Jelsig AM, et al. Among authors: diness br. Eur J Med Genet. 2018 Mar;61(3):168-172. doi: 10.1016/j.ejmg.2017.11.012. Epub 2017 Nov 24. Eur J Med Genet. 2018. PMID: 29175558

3

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.

4

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L, Svaneby D, Aagaard MM, Vogel I, Gjørup H, Davidsen M, Hellfritzsch MB, Lauridsen E, Gregersen PA. Graversen L, et al. Among authors: diness br. Eur J Med Genet. 2020 Feb;63(2):103650. doi: 10.1016/j.ejmg.2019.04.007. Epub 2019 Apr 11. Eur J Med Genet. 2020. PMID: 30980954

5

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD).

Diness BR, Palmquist RN, Norling R, Hove H, Bundgaard H, Hertz JM, Kondziella D, Krieger D, Dunø M, Grønborg S. Diness BR, et al. J Neurol Sci. 2020 Aug 15;415:116897. doi: 10.1016/j.jns.2020.116897. Epub 2020 May 13. J Neurol Sci. 2020. PMID: 32464348

6

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Among authors: diness br. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.

7

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

Schönewolf-Greulich B, Karstensen HG, Hjortshøj TD, Jørgensen FS, Harder KM, Frevert S, Hove H, Diness BR. Schönewolf-Greulich B, et al. Among authors: diness br. Eur J Med Genet. 2022 Oct;65(10):104590. doi: 10.1016/j.ejmg.2022.104590. Epub 2022 Aug 11. Eur J Med Genet. 2022. PMID: 35964931 Free article.

8

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

Grønskov K, Diness B, Stahlhut M, Zilmer M, Tümer Z, Bisgaard AM, Brøndum-Nielsen K. Grønskov K, et al. Eur J Med Genet. 2014 May-Jun;57(6):284-7. doi: 10.1016/j.ejmg.2014.03.009. Epub 2014 Apr 13. Eur J Med Genet. 2014. PMID: 24727054

9

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

Boelman MB, Hansen TVO, Smith MN, Hammer-Hansen S, Christensen AH, Diness BR. Boelman MB, et al. Among authors: diness br. Am J Med Genet A. 2024 Mar;194(3):e63458. doi: 10.1002/ajmg.a.63458. Epub 2023 Nov 3. Am J Med Genet A. 2024. PMID: 37921548

10

First reported adult patient with TARP syndrome: A case report.

Højland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK. Højland AT, et al. Among authors: diness br. Am J Med Genet A. 2018 Dec;176(12):2915-2918. doi: 10.1002/ajmg.a.40638. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462380 Free PMC article.

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