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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: ousager lb. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
JP-HHT phenotype in Danish patients with SMAD4 mutations.
Jelsig AM, Tørring PM, Kjeldsen AD, Qvist N, Bojesen A, Jensen UB, Andersen MK, Gerdes AM, Brusgaard K, Ousager LB. Jelsig AM, et al. Among authors: ousager lb. Clin Genet. 2016 Jul;90(1):55-62. doi: 10.1111/cge.12693. Epub 2015 Dec 21. Clin Genet. 2016. PMID: 26572829
Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia.
Tørring PM, Lauridsen MF, I Dali C, Andersen PE, Ousager LB, Brusgaard K, Kjeldsen A. Tørring PM, et al. Among authors: ousager lb. Clin Case Rep. 2017 Apr 13;5(6):805-808. doi: 10.1002/ccr3.785. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588815 Free PMC article.
Mutation update for the PORCN gene.
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC. Lombardi MP, et al. Among authors: ousager lb. Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Hum Mutat. 2011. PMID: 21472892 Review.
Disease pattern in Danish patients with Peutz-Jeghers syndrome.
Jelsig AM, Qvist N, Sunde L, Brusgaard K, Hansen T, Wikman FP, Nielsen CB, Nielsen IK, Gerdes AM, Bojesen A, Ousager LB. Jelsig AM, et al. Among authors: ousager lb. Int J Colorectal Dis. 2016 May;31(5):997-1004. doi: 10.1007/s00384-016-2560-3. Epub 2016 Mar 15. Int J Colorectal Dis. 2016. PMID: 26979979
68 results