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Page 1
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: menko fh. 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.
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: menko fh. 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
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: menko fh. 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.
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
Geilswijk M, Genuardi M, Woodward ER, Nightingale K, Huber J, Madsen MG, Liekelema-van der Heij D, Lisseman I, Marlé-Ballangé J, McCarthy C, Menko FH, Moorselaar RJAV, Radzikowska E, Richard S, Rajan N, Sommerlund M, Wetscherek MTA, Di Donato N, Maher ER, Brunet J. Geilswijk M, et al. Among authors: menko fh. Eur J Hum Genet. 2024 Jul 31. doi: 10.1038/s41431-024-01671-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39085584 Review.
European collaboration on genetic tumour risk syndromes.
Vetti HH, Blanco I, Menko FH. Vetti HH, et al. Among authors: menko fh. Eur J Med Genet. 2023 Feb;66(2):104691. doi: 10.1016/j.ejmg.2022.104691. Epub 2022 Dec 26. Eur J Med Genet. 2023. PMID: 36581153 No abstract available.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Schrijver LH, Antoniou AC, Olsson H, Mooij TM, Roos-Blom MJ, Azarang L, Adlard J, Ahmed M, Barrowdale D, Davidson R, Donaldson A, Eeles R, Evans DG, Frost D, Henderson A, Izatt L, Ong KR, Bonadona V, Coupier I, Faivre L, Fricker JP, Gesta P, van Engelen K, Jager A, Menko FH, Mourits MJE, Singer CF, Tan YY, Foretova L, Navratilova M, Schmutzler RK, Ellberg C, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Rantala J, Osorio A, Hopper JL, Phillips KA, Milne RL, Beth Terry M, Noguès C, Engel C, Kast K, Goldgar DE, van Leeuwen FE, Easton DF, Andrieu N, Rookus MA; Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study. Schrijver LH, et al. Among authors: menko fh. Am J Obstet Gynecol. 2021 Jul;225(1):51.e1-51.e17. doi: 10.1016/j.ajog.2021.01.014. Epub 2021 Jan 22. Am J Obstet Gynecol. 2021. PMID: 33493488 Free PMC article.
156 results