Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.
Davidson AL, Michailidou K, Parsons MT, Fortuno C, Bolla MK, Wang Q, Dennis J, Naven M, Abubakar M, Ahearn TU, Alonso MR, Andrulis IL, Antoniou AC, Auvinen P, Behrens S, Bermisheva MA, Bogdanova NV, Bojesen SE, Brüning T, Byers HJ, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Gronwald J, Guénel P, Hadjisavvas A, Haeberle L, Hall P, Hamann U, Hartman M, Ho PJ, Hooning MJ, Hoppe R, Howell A; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Kristensen VN, Li J, Lim J, Lindblom A, Liu J, Lophatananon A, Mannermaa A, Mavroudis DA, Mensenkamp AR, Milne RL, Muir KR, Newman WG, Obi N, Panayiotidis MI, Park SK, Park-Simon TW, Peterlongo P, Radice P, Rashid MU, Rhenius V, Saloustros E, Sawyer EJ, Schmidt MK, Seibold P, Shah M, Southey MC, Teo SH, Tomlinson I, Torres D, Truong T, van de Beek I, van der Hout AH, Wendt CC, Dunning AM, Pharoah PDP, Devilee P, Easton DF, James PA, Spurdle AB. Davidson AL, et al. Among authors: van de beek i. Am J Hum Genet. 2024 Sep 5;111(9):2059-2069. doi: 10.1016/j.ajhg.2024.07.004. Epub 2024 Aug 2. Am J Hum Genet. 2024. PMID: 39096911
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report.
van Riel L, Kets CM, van Hest LP, Menko FH, Boerrigter BG, Franken SM, Wolthuis RMF, Dubbink HJ, Zondervan PJ, van Moorselaar RJA, Houweling AC, van de Beek I. van Riel L, et al. Among authors: van de beek i. Fam Cancer. 2024 Nov;23(4):579-582. doi: 10.1007/s10689-024-00408-w. Epub 2024 Jun 20. Fam Cancer. 2024. PMID: 38900222 Free PMC article. No abstract available.
Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.
Schreurs MAC, Schmidt MK, Hollestelle A, Schaapveld M, van Asperen CJ, Ausems MGEM, van de Beek I, Broekema MF, Margriet Collée J, van der Hout AH, van Kaam KJAF, Komdeur FL, Mensenkamp AR, Adank MA, Hooning MJ; Hereditary Breast and Ovarian Cancer Research Group Netherlands. Schreurs MAC, et al. Among authors: van de beek i. Genet Med. 2024 Sep;26(9):101171. doi: 10.1016/j.gim.2024.101171. Epub 2024 May 31. Genet Med. 2024. PMID: 38828701 Free article.
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.
34 results