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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: bak m. 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.
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Stoltze UK, Foss-Skiftesvik J, van Overeem Hansen T, Byrjalsen A, Sehested A, Scheie D, Stamm Mikkelsen T, Rasmussen S, Bak M, Okkels H, Thude Callesen M, Skjøth-Rasmussen J, Gerdes AM, Schmiegelow K, Mathiasen R, Wadt K. Stoltze UK, et al. Among authors: bak m. Neuro Oncol. 2023 Apr 6;25(4):761-773. doi: 10.1093/neuonc/noac187. Neuro Oncol. 2023. PMID: 35902210 Free PMC article.
Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity.
Bagger SO, Hopkinson BM, Pandey DP, Bak M, Brydholm AV, Villadsen R, Helin K, Rønnov-Jessen L, Petersen OW, Kim J. Bagger SO, et al. Among authors: bak m. Mol Cancer. 2018 Dec 10;17(1):171. doi: 10.1186/s12943-018-0918-6. Mol Cancer. 2018. PMID: 30526604 Free PMC article.
DNA methylation episignature in Gabriele-de Vries syndrome.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. Cherik F, et al. Among authors: bak m. Genet Med. 2022 Apr;24(4):905-914. doi: 10.1016/j.gim.2021.12.003. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027293 Free article.
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: bak m. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845
Case report: 'AARS2 leukodystrophy'.
Axelsen TM, Vammen TL, Bak M, Pourhadi N, Stenør CM, Grønborg S. Axelsen TM, et al. Among authors: bak m. Mol Genet Metab Rep. 2021 Jul 13;28:100782. doi: 10.1016/j.ymgmr.2021.100782. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34285876 Free PMC article.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: bak m. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
670 results