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Page 1
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Behrens S, Bermisheva M, de Gonzalez AB, Białkowska K, Boddicker N, Bodelon C, Bogdanova NV, Bojesen SE, Brantley KD, Brauch H, Brenner H, Camp NJ, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dunning AM, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gago-Dominguez M, Gentry-Maharaj A, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hamann U, Hartikainen JM, Ho V, Hodge J, Hollestelle A, Honisch E, Hooning MJ, Hoppe R, Hopper JL, Howell S, Howell A; ABCTB Investigators; kConFab Investigators; Jakovchevska S, Jakubowska A, Jernström H, Johnson N, Kaaks R, Khusnutdinova EK, Kitahara CM, Koutros S, Kristensen VN, Lacey JV, Lambrechts D, Lejbkowicz F, Lindblom A, Lush M, Mannermaa A, Mavroudis D, Menon U, Murphy RA, Nevanlinna H, Obi N, Offit K, Park-Simon TW, Patel AV, Peng C, Peterlongo P, Pita G, Plaseska-Karanfilska D, Pylkäs… See abstract for full author list ➔ Yiangou K, et al. Among authors: van de beek i. medRxiv [Preprint]. 2024 Feb 13:2024.02.12.24302043. doi: 10.1101/2024.02.12.24302043. medRxiv. 2024. PMID: 38410445 Free PMC article. Preprint.
Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.
van Riel L, van Hulst RA, van Hest L, van Moorselaar R, Boerrigter BG, Franken SM, Wolthuis R, Dubbink HJ, Marciniak SJ, Gupta N, van de Beek I, Houweling AC. van Riel L, et al. Among authors: van de beek i. Expert Rev Respir Med. 2023 Jul-Dec;17(11):1003-1008. doi: 10.1080/17476348.2023.2284375. Epub 2023 Dec 26. Expert Rev Respir Med. 2023. PMID: 37991821 Free PMC article. Review.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: van de beek i. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Urinary incontinence more than 15 years after premenopausal risk-reducing salpingo-oophorectomy: a multicentre cross-sectional study.
Terra L, Heemskerk-Gerritsen BAM, Beekman MJ, Engelhardt E, Mourits MJE, van Doorn HC, de Hullu JA, Mom CH, Slangen BFM, Gaarenstroom KN, van Beurden M, Roeters Van Lennep JE, van Dorst EBL, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, Steensma AB, van Leeuwen FE. Terra L, et al. Among authors: van de beek i. BJOG. 2024 Jan;131(1):99-108. doi: 10.1111/1471-0528.17591. Epub 2023 Jul 2. BJOG. 2024. PMID: 37394722
[Pneumothorax as an early indication for a genetic disorder].
van Riel L, van de Beek I, Wolthuis RMF, Boerrigter BG, van Moorselaar RJA, Houweling AC. van Riel L, et al. Among authors: van de beek i. Ned Tijdschr Geneeskd. 2023 Jun 22;167:D7422. Ned Tijdschr Geneeskd. 2023. PMID: 37345626 Dutch.
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.
Kast K, John EM, Hopper JL, Andrieu N, Noguès C, Mouret-Fourme E, Lasset C, Fricker JP, Berthet P, Mari V, Salle L, Schmidt MK, Ausems MGEM, Garcia EBG, van de Beek I, Wevers MR, Evans DG, Tischkowitz M, Lalloo F, Cook J, Izatt L, Tripathi V, Snape K, Musgrave H, Sharif S, Murray J; EMBRACE Collaborators; Colonna SV, Andrulis IL, Daly MB, Southey MC, de la Hoya M, Osorio A, Foretova L, Berkova D, Gerdes AM, Olah E, Jakubowska A, Singer CF, Tan Y, Augustinsson A, Rantala J, Simard J, Schmutzler RK, Milne RL, Phillips KA, Terry MB, Goldgar D, van Leeuwen FE, Mooij TM, Antoniou AC, Easton DF, Rookus MA, Engel C. Kast K, et al. Among authors: van de beek i. Breast Cancer Res. 2023 Jun 20;25(1):72. doi: 10.1186/s13058-023-01673-w. Breast Cancer Res. 2023. PMID: 37340476 Free PMC article.
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 de beek i. 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.
Long-term effects of premenopausal risk-reducing salpingo-oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross-sectional study.
Terra L, Lee Meeuw Kjoe PR, Agelink van Rentergem JA, Beekman MJ, Heemskerk-Gerritsen BAM, van Beurden M, Roeters van Lennep JE, van Doorn HC, de Hullu JA, Mourits MJE, van Dorst EBL, Mom CH, Slangen BFM, Gaarenstroom KN, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, van der Wall E, van Leeuwen FE, Schagen SB. Terra L, et al. Among authors: van de beek i. BJOG. 2023 Jul;130(8):968-977. doi: 10.1111/1471-0528.17415. Epub 2023 Feb 19. BJOG. 2023. PMID: 36715559
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. 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
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, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC. van de Beek I, et al. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 Free PMC article.
31 results