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Page 1
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Berghuis D, Mehyar LS, Abu-Arja R, Albert MH, Barnum JL, von Bernuth H, Elfeky R, Lewalle P, Laberko A, Ghosh S, Slatter MA, Weemaes CMR, Yesilipek A, Sirait T, Neven B, Gennery AR, Lankester AC; Inborn Errors Working Party (IEWP) of the European Society for Immunodeficiencies (ESID), the European Society for Blood and Marrow Transplantation (EBMT) and the European Reference Network that aims at improving the care of patients with rare immunological disorders (ERN-RITA). Berghuis D, et al. Among authors: weemaes cmr. J Clin Immunol. 2024 Aug 21;44(8):182. doi: 10.1007/s10875-024-01786-7. J Clin Immunol. 2024. PMID: 39167297 Free PMC article.
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators. Seidel MG, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15. J Allergy Clin Immunol Pract. 2019. PMID: 30776527
Epidemiology and management of malignancies in patients with inborn errors of immunity-An ESID registry study of 19,959 patients.
Bogaert DJA, Wolfsberger CH, Attarbaschi A, Gathmann J, Warnatz K, Mueller G, Mukhina A, Rusch S; ESID Registry Working Party; Kindle G, van Montfrans JM, Seidel MG. Bogaert DJA, et al. J Allergy Clin Immunol. 2025 Nov 14:S0091-6749(25)01126-1. doi: 10.1016/j.jaci.2025.10.033. Online ahead of print. J Allergy Clin Immunol. 2025. PMID: 41242640 Free article.
The ATTeST trial in ataxia telangiectasia: some concerns.
Willemsen MAAP, van Os NJH, Roeleveld N, Weemaes CMR. Willemsen MAAP, et al. Among authors: weemaes cmr. Lancet Neurol. 2025 Mar;24(3):188. doi: 10.1016/S1474-4422(25)00025-0. Lancet Neurol. 2025. PMID: 39986298 No abstract available.
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Veenhuis SJG, van Os NJH, Janssen AJWM, van Gerven MHJC, Coene KLM, Engelke UFH, Wevers RA, Tinnevelt GH, Ter Heine R, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP. Veenhuis SJG, et al. Among authors: weemaes cmr. Mov Disord. 2021 Dec;36(12):2951-2957. doi: 10.1002/mds.28788. Epub 2021 Sep 13. Mov Disord. 2021. PMID: 34515380 Free PMC article.
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.
ATM: Translating the DNA Damage Response to Adaptive Immunity.
Weitering TJ, Takada S, Weemaes CMR, van Schouwenburg PA, van der Burg M. Weitering TJ, et al. Among authors: weemaes cmr. Trends Immunol. 2021 Apr;42(4):350-365. doi: 10.1016/j.it.2021.02.001. Epub 2021 Mar 1. Trends Immunol. 2021. PMID: 33663955 Review.
Dysarthria in children and adults with ataxia telangiectasia.
Veenhuis SJG, van Os NJH, van Gerven MHJC, van Haaften L, Mulder EH, Weemaes CMR, Willemsen MAAP. Veenhuis SJG, et al. Among authors: weemaes cmr. Dev Med Child Neurol. 2021 Apr;63(4):450-456. doi: 10.1111/dmcn.14811. Epub 2021 Jan 31. Dev Med Child Neurol. 2021. PMID: 33521952 Free PMC article.
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP. van Os NJH, et al. Among authors: weemaes cmr. J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27. J Neurol. 2020. PMID: 31776720 Free PMC article.
Immunodeficiency in Bloom's Syndrome.
Schoenaker MHD, Henriet SS, Zonderland J, van Deuren M, Pan-Hammarström Q, Posthumus-van Sluijs SJ, Pico-Knijnenburg I, Weemaes CMR, IJspeert H. Schoenaker MHD, et al. Among authors: weemaes cmr. J Clin Immunol. 2018 Jan;38(1):35-44. doi: 10.1007/s10875-017-0454-y. Epub 2017 Nov 2. J Clin Immunol. 2018. PMID: 29098565 Free PMC article.
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP. van Os NJH, et al. Among authors: weemaes cmr. Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24. Clin Immunol. 2017. PMID: 28126470 Free article.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
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.
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Neuropathology in classical and variant ataxia-telangiectasia.
Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH, Taylor MA, Willemsen MA, Lammens M. Verhagen MM, et al. Neuropathology. 2012 Jun;32(3):234-44. doi: 10.1111/j.1440-1789.2011.01263.x. Epub 2011 Oct 24. Neuropathology. 2012. PMID: 22017321
Immunodeficiency in a child with partial trisomy 6p.
Bart IY, Weemaes CM, Schuitema-Dijkstra AR, Smeets D, de Vries E. Bart IY, et al. Acta Paediatr. 2011 Aug;100(8):e92-4. doi: 10.1111/j.1651-2227.2011.02202.x. Epub 2011 Mar 2. Acta Paediatr. 2011. PMID: 21299612
Clinical spectrum of ataxia-telangiectasia in adulthood.
Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van't Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M. Verhagen MM, et al. Neurology. 2009 Aug 11;73(6):430-7. doi: 10.1212/WNL.0b013e3181af33bd. Epub 2009 Jun 17. Neurology. 2009. PMID: 19535770
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.
Noordzij JG, Wulffraat NM, Haraldsson A, Meyts I, van't Veer LJ, Hogervorst FB, Warris A, Weemaes CM. Noordzij JG, et al. Arch Dis Child. 2009 Jun;94(6):448-9. doi: 10.1136/adc.2008.149351. Epub 2009 Feb 17. Arch Dis Child. 2009. PMID: 19224889
Ataxia-Telangiectasia and mechanical ventilation: a word of caution.
Verhagen MM, van Deuren M, Willemsen MA, Van der Hoeven HJ, Heijdra YF, Yntema JB, Weemaes CM, Neeleman C. Verhagen MM, et al. Pediatr Pulmonol. 2009 Jan;44(1):101-2. doi: 10.1002/ppul.20957. Pediatr Pulmonol. 2009. PMID: 19085928 No abstract available.
Reversible hypogammaglobulinaemia.
Desar IM, Weemaes CM, van Deuren M, van der Meer JW. Desar IM, et al. Neth J Med. 2007 Nov;65(10):381-5. Neth J Med. 2007. PMID: 18057460 Free 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. 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
Nijmegen breakage syndrome: a neuropathological study.
Lammens M, Hiel JA, Gabreëls FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Lammens M, et al. Neuropediatrics. 2003 Aug;34(4):189-93. doi: 10.1055/s-2003-42207. Neuropediatrics. 2003. PMID: 12973659
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ. Noordzij JG, et al. Blood. 2003 Feb 15;101(4):1446-52. doi: 10.1182/blood-2002-01-0187. Epub 2002 Oct 24. Blood. 2003. PMID: 12406895 Free article.