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Page 1
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Barington M, Bak M, Kjartansdóttir KR, Hansen TVO, Birkedal U, Østergaard E, Hove HB. Barington M, et al. Among authors: hansen tvo. Am J Med Genet A. 2024 Aug;194(8):e63581. doi: 10.1002/ajmg.a.63581. Epub 2024 Apr 11. Am J Med Genet A. 2024. PMID: 38600862
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
Jensen MR, Stoltze U, Hansen TVO, Bak M, Sehested A, Rechnitzer C, Mathiasen R, Scheie D, Larsen KB, Olsen TE, Muhic A, Skjøth-Rasmussen J, Rossing M, Schmiegelow K, Wadt K. Jensen MR, et al. Among authors: hansen tvo. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006164. doi: 10.1101/mcs.a006164. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35422439 Free PMC article. Review.
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.
Byrjalsen A, Stoltze UK, Lautrup C, Christensen LL, Mikkelsen T, Hjalgrim L, Brok JS, Dahl C, Schmiegelow K, Borgwardt L, Diness BR, Hansen TVO, Wadt KAW. Byrjalsen A, et al. Among authors: hansen tvo. J Med Genet. 2024 Oct 23;61(11):1023-1025. doi: 10.1136/jmg-2024-110255. J Med Genet. 2024. PMID: 39317423 No abstract available.
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: hansen tvo. 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.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG. Moghadasi S, et al. Among authors: hansen tvo. J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10. J Med Genet. 2018. PMID: 28490613
145 results