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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 2
2018 1
2019 3
2020 3
2021 5
2022 10
2023 3
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23 results
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Page 1
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: van de beek i. 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.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: van de beek i. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Seventh BHD international symposium: recent scientific and clinical advancement.
Woodford MR, Andreou A, Baba M, van de Beek I, Di Malta C, Glykofridis I, Grimes H, Henske EP, Iliopoulos O, Kurihara M, Lazor R, Linehan WM, Matsumoto K, Marciniak SJ, Namba Y, Pause A, Rajan N, Ray A, Schmidt LS, Shi W, Steinlein OK, Thierauf J, Zoncu R, Webb A, Mollapour M. Woodford MR, et al. Among authors: van de beek i. Oncotarget. 2022 Jan 20;13:173-181. doi: 10.18632/oncotarget.28176. eCollection 2022. Oncotarget. 2022. PMID: 35070081 Free PMC article.
Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study.
van Barele M, Rieborn A, Heemskerk-Gerritsen BAM, Obdeijn IM, Koppert LB, Loo CE, Tollenaar RAEM, Ausems MGEM, van de Beek I, Berger LPV, de Boer M, van Hest LP, Kets CM, Rookus M; Hebon; Schmidt MK, Jager A, Hooning MJ. van Barele M, et al. Among authors: van de beek i. Breast Cancer Res Treat. 2022 Jul;194(1):159-170. doi: 10.1007/s10549-022-06608-1. Epub 2022 May 4. Breast Cancer Res Treat. 2022. PMID: 35507134 Free PMC article.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
van de Beek I, Glykofridis IE, Oosterwijk JC, Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, Moorselaar RJA, Wolthuis RMF, Houweling AC. van de Beek I, et al. Hum Mol Genet. 2022 Nov 28:ddac288. doi: 10.1093/hmg/ddac288. Online ahead of print. Hum Mol Genet. 2022. PMID: 36440963
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
van de Beek I, Glykofridis IE, Wagner A, den Toom DT, Bongers EMHF, van Leenders GJLH, Johannesma PC, Meijers-Heijboer HEJ, Wolthuis RMF, van Steensel MAM, Dubbink HJ, Houweling AC. van de Beek I, et al. Mol Genet Genomic Med. 2022 Nov 16:e2098. doi: 10.1002/mgg3.2098. Online ahead of print. Mol Genet Genomic Med. 2022. PMID: 36382415 Free article.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P. Lakeman IMM, et al. Among authors: van de beek i. J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Online ahead of print. J Med Genet. 2022. PMID: 36137616 Free article.
Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. Glykofridis IE, et al. Among authors: van de beek i. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
23 results