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Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al.
van Riel L, Jansen PR, Boerrigter BG, van Moorselaar RJA, van Haelst MM, Wolthuis RMF, van de Beek I, Houweling AC. van Riel L, et al. Among authors: van haelst mm, van moorselaar rja, van de beek i. Genet Med. 2023 Jan;25(1):158-160. doi: 10.1016/j.gim.2022.08.033. Epub 2022 Nov 16. Genet Med. 2023. PMID: 36383210 Free article. No abstract available.
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Johannesma PC, Houweling AC, Menko FH, van de Beek I, Reinhard R, Gille JJ, van Waesberghe JT, Thunnissen E, Starink TM, Postmus PE, van Moorselaar RJ. Johannesma PC, et al. Among authors: van moorselaar rj, van waesberghe jt, van de beek i. Fam Cancer. 2016 Apr;15(2):297-300. doi: 10.1007/s10689-015-9853-5. Fam Cancer. 2016. PMID: 26603437 Free PMC article.
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
Johannesma PC, van de Beek I, van der Wel JW, Paul MA, Houweling AC, Jonker MA, van Waesberghe JH, Reinhard R, Starink TM, van Moorselaar RJ, Menko FH, Postmus PE. Johannesma PC, et al. Among authors: van der wel jw, van waesberghe jh, van moorselaar rj, van de beek i. Springerplus. 2016 Sep 7;5(1):1506. doi: 10.1186/s40064-016-3009-4. eCollection 2016. Springerplus. 2016. PMID: 27652079 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 rijn p, van hagen jm, van de beek i, van tintelen jp. 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.
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.
Johannesma PC, van de Beek I, van der Wel TJWT, Reinhard R, Rozendaal L, Starink TM, van Waesberghe JHTM, Horenblas S, Gille HJJP, Jonker MA, Meijers-Heijboer HEJ, Postmus PE, Houweling AC, van Moorselaar JRA. Johannesma PC, et al. Among authors: van waesberghe jhtm, van der wel tjwt, van moorselaar jra, van de beek i. PLoS One. 2019 Mar 7;14(3):e0212952. doi: 10.1371/journal.pone.0212952. eCollection 2019. PLoS One. 2019. PMID: 30845233 Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Among authors: de man sa, van de laar i, van haelst m, van slegtenhorst m, van de beek i. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC 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 mil se, de menezes rx, van de beek i. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.
Sriram JD, van de Beek I, Johannesma PC, van Werkum MH, van der Wel TJWT, Wessels EM, Gille HJJP, Houweling AC, Postmus PE, Smit HJM. Sriram JD, et al. Among authors: van werkum mh, van der wel tjwt, van de beek i. BMC Pulm Med. 2022 Aug 26;22(1):325. doi: 10.1186/s12890-022-02107-7. BMC Pulm Med. 2022. PMID: 36028846 Free PMC article.
34 results