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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Genes (Basel). 2021 Mar 31;12(4):510. doi: 10.3390/genes12040510.
Genes (Basel). 2021.
PMID: 33807164
Free PMC 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: pottie l.
Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528.
Genes (Basel). 2019.
PMID: 31336972
Free PMC article.
Review.
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
Pottie L, et al.
Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14.
Am J Hum Genet. 2021.
PMID: 33991472
Free PMC article.
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Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Beyens A, Pottie L, Sips P, Callewaert B.
Beyens A, et al. Among authors: pottie l.
Adv Exp Med Biol. 2021;1348:273-309. doi: 10.1007/978-3-030-80614-9_13.
Adv Exp Med Biol. 2021.
PMID: 34807425
Review.
Item in Clipboard
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Pottie L, Van Gool W, Vanhooydonck M, Hanisch FG, Goeminne G, Rajkovic A, Coucke P, Sips P, Callewaert B.
Pottie L, et al.
PLoS Genet. 2021 Jun 18;17(6):e1009603. doi: 10.1371/journal.pgen.1009603. eCollection 2021 Jun.
PLoS Genet. 2021.
PMID: 34143769
Free PMC article.
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Correction to: Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis.
Beyens A, Pottie L, Sips P, Callewaert B.
Beyens A, et al. Among authors: pottie l.
Adv Exp Med Biol. 2021;1348:C1. doi: 10.1007/978-3-030-80614-9_16.
Adv Exp Med Biol. 2021.
PMID: 34985652
No abstract available.
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
Pottie L, et al.
Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009.
Am J Hum Genet. 2021.
PMID: 34861177
Free PMC article.
No abstract available.
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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B.
Adamo CS, et al. Among authors: pottie l.
Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8.
Am J Hum Genet. 2022.
PMID: 36351433
Free PMC article.
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