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Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: van steensel m. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
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. Among authors: van steensel mam. Mol Genet Genomic Med. 2023 Feb;11(2):e2098. doi: 10.1002/mgg3.2098. Epub 2022 Nov 16. Mol Genet Genomic Med. 2023. PMID: 36382415 Free PMC article.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. Among authors: van steensel mam. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954
inPhocus: Current State and Challenges of Phage Research in Singapore.
Verma NK, Tan SJ, Chen J, Chen H, Ismail MH, Rice SA, Bifani P, Hariharan S, Paul VD, Sriram B, Dam LC, Chan CC, Ho P, Goh BC, Chung SJ, Goh KCM, Thong SH, Kwa AL, Ostrowski A, Aung TT, Razali H, Low SWY, Bhattacharyya MS, Gautam HK, Lakshminarayanan R, Sicheritz-Pontén T, Clokie MRJ, Moreira W, van Steensel MAM. Verma NK, et al. Among authors: van steensel mam. Phage (New Rochelle). 2022 Mar 1;3(1):6-11. doi: 10.1089/phage.2022.29028.nkv. Epub 2022 Mar 18. Phage (New Rochelle). 2022. PMID: 36161195 Free PMC article.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X. Liu Y, et al. Among authors: van steensel mam. Br J Dermatol. 2022 Dec;187(6):948-961. doi: 10.1111/bjd.21842. Epub 2022 Sep 12. Br J Dermatol. 2022. PMID: 35986704
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Loh AYT, et al. Among authors: van steensel mam. Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25. Am J Med Genet A. 2022. PMID: 35212137
218 results