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Page 1
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.
Beyens A, Dequeker L, Brems H, Janssens S, Syryn H, D'Hooghe A, De Paepe P, Vanwalleghem L, Stockman A, Vankwikelberge E, De Schepper S, Goeteyn M, Delbeke P, Callewaert B. Beyens A, et al. Among authors: callewaert b. Int J Mol Sci. 2022 Apr 6;23(7):4036. doi: 10.3390/ijms23074036. Int J Mol Sci. 2022. PMID: 35409398 Free PMC article.
Correction: 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, Baena N, 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 Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: callewaert b. Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3. Genet Med. 2019. PMID: 30201961 Free article.
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.
Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M, Baeke F, Hoebeke P, Plasschaert F, Loeys B, De Schepper S, Symoens S, Callewaert B. Beyens A, et al. Among authors: callewaert b. Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528. Genes (Basel). 2019. PMID: 31336972 Free PMC article. Review.
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, Janssens S, Panzer J, Plasschaert F, De Wolf D, Callewaert B. Meerschaut I, et al. Among authors: callewaert b. Am J Med Genet A. 2019 Dec;179(12):2494-2499. doi: 10.1002/ajmg.a.61377. Epub 2019 Oct 9. Am J Med Genet A. 2019. PMID: 31595668
Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É. Boel A, et al. Among authors: callewaert b. Antioxid Redox Signal. 2021 Apr 10;34(11):875-889. doi: 10.1089/ars.2019.7843. Epub 2019 Nov 14. Antioxid Redox Signal. 2021. PMID: 31621376
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. Among authors: callewaert b. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537
159 results