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Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. Hendricks LAJ, et al. Among authors: schuurs hoeijmakers jhm. J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. doi: 10.1093/jnci/djac188. J Natl Cancer Inst. 2023. PMID: 36171661 Free article.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: schuurs hoeijmakers jhm. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. Hinić S, et al. Genet Med. 2024 May;26(5):101101. doi: 10.1016/j.gim.2024.101101. Epub 2024 Feb 13. Genet Med. 2024. PMID: 38362852 Free article.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy MC, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N, Vos JR. Hendricks LAJ, et al. Among authors: schuurs hoeijmakers jhm. Cancers (Basel). 2024 Feb 27;16(5):953. doi: 10.3390/cancers16050953. Cancers (Basel). 2024. PMID: 38473316 Free PMC article.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
58 results