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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 2
2005 1
2006 1
2007 2
2008 7
2009 7
2010 2
2012 8
2013 4
2014 10
2015 8
2016 8
2017 9
2018 13
2019 13
2020 12
2021 7
2022 10
2023 1
2024 0

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Similar articles for PMID: 29323665

110 results

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Page 1
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M. Ritelli M, et al. BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. BMC Med Genet. 2014. PMID: 25373504 Free PMC article. Review.
A Rare Case of Arterial Tortuosity Syndrome.
Pagliariccio G, Macchini M. Pagliariccio G, et al. Eur J Vasc Endovasc Surg. 2019 Nov;58(5):663. doi: 10.1016/j.ejvs.2019.07.028. Epub 2019 Sep 24. Eur J Vasc Endovasc Surg. 2019. PMID: 31561962 Free article. No abstract available.
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Boel A, Burger J, Vanhomwegen M, Beyens A, Renard M, Barnhoorn S, Casteleyn C, Reinhardt DP, Descamps B, Vanhove C, van der Pluijm I, Coucke P, Willaert A, Essers J, Callewaert B. Boel A, et al. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
Arterial tortuosity syndrome: case report.
Karakurt C, Koçak G, Elkiran O, Coucke PJ, Van Maldergem L. Karakurt C, et al. Genet Couns. 2012;23(4):477-82. Genet Couns. 2012. PMID: 23431747
110 results