Beyens A - Search Results

1

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: beyens a. Eur J Hum Genet. 2024 Sep;32(9):1086-1094. doi: 10.1038/s41431-024-01664-1. Epub 2024 Jul 12. Eur J Hum Genet. 2024. PMID: 38997468

2

Beyens A, Moreno-Artero E, Bodemer C, Cox H, Gezdirici A, Yilmaz Gulec E, Kahloul N, Khau Van Kien P, Ogur G, Harroche A, Vasse M, Salhi A, Symoens S, Hadj-Rabia S, Callewaert B. Beyens A, et al. Exp Dermatol. 2019 Oct;28(10):1142-1145. doi: 10.1111/exd.13723. Epub 2018 Aug 20. Exp Dermatol. 2019. PMID: 29952037

3

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. Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528. Genes (Basel). 2019. PMID: 31336972 Free PMC article. Review.

4

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: beyens a. 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

5

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: beyens a. 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

6

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.

Karoulias SZ, Beyens A, Balic Z, Symoens S, Vandersteen A, Rideout AL, Dickinson J, Callewaert B, Hubmacher D. Karoulias SZ, et al. Among authors: beyens a. Matrix Biol. 2020 Jun;88:1-18. doi: 10.1016/j.matbio.2019.11.001. Epub 2019 Nov 11. Matrix Biol. 2020. PMID: 31726086

7

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: beyens a. Hum Mol Genet. 2020 Jun 3;29(9):1476-1488. doi: 10.1093/hmg/ddaa071. Hum Mol Genet. 2020. PMID: 32307537

8

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.

Beyens A, Boel A, Symoens S, Callewaert B. Beyens A, et al. Clin Genet. 2021 Jan;99(1):53-66. doi: 10.1111/cge.13865. Epub 2020 Oct 27. Clin Genet. 2021. PMID: 33058140 Review.

9

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

Verlee M, Beyens A, Gezdirici A, Gulec EY, Pottie L, De Feyter S, Vanhooydonck M, Tapaneeyaphan P, Symoens S, Callewaert B. Verlee M, et al. Among authors: beyens a. Genes (Basel). 2021 Mar 31;12(4):510. doi: 10.3390/genes12040510. Genes (Basel). 2021. PMID: 33807164 Free PMC article.

10

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

McKenzie F, Mina K, Callewaert B, Beyens A, Dickinson JE, Jevon G, Papadimitriou J, Diness BR, Steensberg JN, Ek J, Baynam G. McKenzie F, et al. Among authors: beyens a. Clin Genet. 2021 Aug;100(2):168-175. doi: 10.1111/cge.13969. Epub 2021 Apr 25. Clin Genet. 2021. PMID: 33866545

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