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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
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.
The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis.
Adamo CS, Zuk AV, Sengle G.
Adamo CS, et al.
Exp Dermatol. 2021 Jan;30(1):25-37. doi: 10.1111/exd.14191. Epub 2020 Oct 1.
Exp Dermatol. 2021.
PMID: 32920888
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. Among authors: adamo cs.
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.
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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Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site.
Godwin ARF, Dajani R, Zhang X, Thomson J, Holmes DF, Adamo CS, Sengle G, Sherratt MJ, Roseman AM, Baldock C.
Godwin ARF, et al. Among authors: adamo cs.
Nat Struct Mol Biol. 2023 May;30(5):608-618. doi: 10.1038/s41594-023-00950-8. Epub 2023 Apr 20.
Nat Struct Mol Biol. 2023.
PMID: 37081316
Free PMC article.
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Publisher Correction: Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site.
Godwin ARF, Dajani R, Zhang X, Thomson J, Holmes DF, Adamo CS, Sengle G, Sherratt MJ, Roseman AM, Baldock C.
Godwin ARF, et al. Among authors: adamo cs.
Nat Struct Mol Biol. 2023 Oct;30(10):1608. doi: 10.1038/s41594-023-01050-3.
Nat Struct Mol Biol. 2023.
PMID: 37391519
Free PMC article.
No abstract available.
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