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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM. Hagleitner MM, et al. Among authors: weemaes cm. J Med Genet. 2008 Feb;45(2):93-9. doi: 10.1136/jmg.2007.053397. Epub 2007 Sep 24. J Med Genet. 2008. PMID: 17893117
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries F, van Ostaijen-Ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM. van den Boogaard ML, et al. Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28128455
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL. Wijmenga C, et al. Hum Mutat. 2000 Dec;16(6):509-17. doi: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. Hum Mutat. 2000. PMID: 11102980 Review.
ICF syndrome: a new case and review of the literature.
Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G. Smeets DF, et al. Among authors: weemaes cm. Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277. Hum Genet. 1994. PMID: 8076938 Review.
Considerations for radiotherapy in Bloom Syndrome: A case series.
Schoenaker MHD, Takada S, van Deuren M, Dommering CJ, Henriët SSV, Pico I, Vogel WV, Weemaes CMR, Willemsen MAAP, van der Burg M, Kaanders JHAM. Schoenaker MHD, et al. Among authors: weemaes cmr. Eur J Med Genet. 2021 Oct;64(10):104293. doi: 10.1016/j.ejmg.2021.104293. Epub 2021 Aug 2. Eur J Med Genet. 2021. PMID: 34352413 Free article.
157 results