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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Reeskamp LF, Balvers M, Peter J, van de Kerkhof L, Klaaijsen LN, Motazacker MM, Grefhorst A, van Riel NAW, Hovingh GK, Defesche JC, Zuurbier L. Reeskamp LF, et al. Among authors: zuurbier l. Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8. Atherosclerosis. 2021. PMID: 33601267 Free article.
A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF, Hartgers ML, Peter J, Dallinga-Thie GM, Zuurbier L, Defesche JC, Grefhorst A, Hovingh GK. Reeskamp LF, et al. Among authors: zuurbier l. Circ Genom Precis Med. 2018 Dec;11(12):e002385. doi: 10.1161/CIRCGEN.118.002385. Circ Genom Precis Med. 2018. PMID: 30562117
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
Reeskamp LF, Volta A, Zuurbier L, Defesche JC, Hovingh GK, Grefhorst A. Reeskamp LF, et al. Among authors: zuurbier l. J Clin Lipidol. 2020 Mar-Apr;14(2):207-217.e7. doi: 10.1016/j.jacl.2020.01.007. Epub 2020 Jan 29. J Clin Lipidol. 2020. PMID: 32088153
Next-generation sequencing to confirm clinical familial hypercholesterolemia.
Reeskamp LF, Tromp TR, Defesche JC, Grefhorst A, Stroes ES, Hovingh GK, Zuurbier L. Reeskamp LF, et al. Among authors: zuurbier l. Eur J Prev Cardiol. 2020 Jul 27:2047487320942996. doi: 10.1177/2047487320942996. Online ahead of print. Eur J Prev Cardiol. 2020. PMID: 32718233 Free article.
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Tromp TR, et al. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28. Lancet. 2022. PMID: 35101175 Free PMC article.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: zuurbier l. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
42 results