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Full Text	Issue Date	Title	Author(s)
	2011	Hereditary persistence of alpha-fetoprotein	Deuren, M. van; Verhagen, M.; Weemaes, C.M.R.
	2011	Cognitive and speech-language performance in children with ataxia telangiectasia	Vinck, A.; Verhagen, M.M.; Gerven, M.; Groot, I.J.M. de; Weemaes, C.M.R.; Maassen, B.A.M.; Willemsen, M.A.A.P.
	2011	Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide	Ijspeert, H.; Lankester, A.C.; Berg, J.M. van den; Wiegant, W.; Zelm, M.C. van; Weemaes, C.M.R.; Warris, A.; Pan-Hammarstrom, Q.; Pastink, A.; Tol, M.J. van; Dongen, J.J. van; Gent, D.C. van; Burg, M. van der
	2011	NBS1 recruits RAD18 via a RAD6-like domain and regulates Pol eta-dependent translesion DNA synthesis	Yanagihara, H.; Kobayashi, J.; Tateishi, S.; Kato, A.; Matsuura, S.; Tauchi, H.; Yamada, K.; Takezawa, J.; Sugasawa, K.; Masutani, C.; Hanaoka, F.; Weemaes, C.M.R.; Mori, T.; Zou, L.; Komatsu, K.
	2011	Immunodeficiency in a child with partial trisomy 6p	Bart, I.Y.; Weemaes, C.M.R.; Schuitema-Dijkstra, A.R.; Smeets, D.F.; Vries, E. De
	2011	Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?	Chiam, L.Y.; Verhagen, M.M.; Haraldsson, A.; Wulffraat, N.; Driessen, G.J.A.; Netea, M.G.; Weemaes, C.M.R.; Seijger, M.M.B.; Deuren, M. van
	2011	Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome	Brand, M. van den; Flucke, U.E.; Bult, P.; Weemaes, C.M.R.; Deuren, M. van
	2011	Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2	Greef, J.C. de; Wang, J.; Balog, J.; Dunnen, J.T. den; Frants, R.R.; Straasheijm, K.R.; Aytekin, C.; Burg, M. van der; Duprez, L.; Ferster, A.; Gennery, A.R.; Gimelli, G.; Reisli, I.; Schuetz, C.; Schulz, A.; Smeets, D.F.C.M.; Sznajer, Y.; Wijmenga, C.; Eggermond, M.C. van; Ostaijen-ten Dam, M.M. van; Lankester, A.C.; Tol, M.J. van; Elsen, P.J. van den; Weemaes, C.M.R.; Maarel, S.M. van der
	2011	Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours	Reiman, A.; Srinivasan, V.; Barone, G.; Last, J.I.; Wootton, L.L.; Davies, E.G.; Verhagen, M.M.; Willemsen, M.A.A.P.; Weemaes, C.M.R.; Byrd, P.J.; Izatt, L.; Easton, D.F.; Thompson, D.J.; Taylor, A.M.
	2010	Pulmonary function tests in patients with ataxia-telangiectasia : obstructive or restrictive lung dysfunction?	Neeleman, C.; Verhagen, M.; Deuren, M. van; Willemsen, M.A.A.P.; Hoeven, H. van der; Yntema, J.L.; Weemaes, C.M.R.; Heijdra, Y.F.
	2009	Ataxia-Telangiectasia and mechanical ventilation: a word of caution.	Verhagen, M.M.; Deuren, M. van; Willemsen, M.A.A.P.; Hoeven, J.G. van der; Heijdra, Y.F.; Yntema, J.L.; Weemaes, C.M.R.; Neeleman, C.
	2009	Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.	Noordzij, J.G.; Wulffraat, N.M.; Haraldsson, A.; Meyts, I.; Veer, L.J. van 't; Hogervorst, F.B.L.; Warris, A.; Weemaes, C.M.R.
	2009	Clinical spectrum of ataxia-telangiectasia in adulthood.	Verhagen, M.M.; Abdo, W.; Willemsen, M.A.A.P.; Hogervorst, F.B.L.; Smeets, D.F.C.M.; Hiel, J.A.P.; Brunt, E.R.; Rijn, M.A. van; Majoor Krakauer, D.; Oldenburg, R.A.; Broeks, A.; Last, J.I.; Veer, L.J. van 't; Tijssen, M.A.; Dubois, A.M.; Kremer, H.P.H.; Weemaes, C.M.R.; Taylor, A.M.; Deuren, M. van
	2008	Cutaneous graft-versus-host-like histology in childhood. Importance of clonality analysis in differential diagnosis. A case report.	D'hauw, A.; Seyger, M.M.B.; Groenen, P.J.T.A.; Weemaes, C.M.R.; Warris, A.; Blokx, W.A.M.
	2008	Gastrointestinal zygomycosis due to Rhizopus microsporus var. rhizopodiformis as a manifestation of chronic granulomatous disease.	Dekkers, R.; Verweij, P.E.; Weemaes, C.M.R.; Severijnen, R.S.V.M.; Krieken, J.H.J.M. van; Warris, A.
	2008	Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).	Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.
	2007	Een zuigeling met erytrodermie en immuundeficiëntie	Kroft, E.B.M.; Weemaes, C.M.R.; Seyger, M.M.B.
	2007	Recurrent and opportunistic infections in children with primary intestinal lymphangiectasia.	Dierselhuis, M.P.; Boelens, J.J.; Versteegh, F.G.; Weemaes, C.M.R.; Wulffraat, N.M.
	2007	Niet-infectieuze cutane granulomen bij een kind met een primaire immuundeficiëntie	Jager, M.E.A. de; Weemaes, C.M.R.; Blokx, W.A.M.; Seyger, M.M.B.
	2007	Reversible hypogammaglobulinaemia.	Desar, I.M.; Weemaes, C.M.R.; Deuren, M. van; Meer, J.W.M. van der
	2007	Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.	Gennery, A.R.; Slatter, M.A.; Bredius, R.G.; Hagleitner, M.M.; Weemaes, C.M.R.; Cant, A.J.; Lankester, A.C.
	2007	Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.	Greef, J.C. de; Wohlgemuth, M.; Chan, O.A.; Hansson, K.B.; Smeets, D.F.C.M.; Frants, R.R.; Weemaes, C.M.R.; Padberg, G.W.A.M.; Maarel, S.M. van der
	2007	Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.	Verhagen, M.M.; Alfen, N. van; Pillen, S.; Weemaes, C.M.R.; Yntema, J.L.; Hiel, J.A.P.; Laak, H.J. ter; Deuren, M. van; Broeks, A.; Willemsen, M.A.A.P.
	2006	Lactobacillus fermentum bacteriaemia in a seriously ill premature short small bowel patient during probiotic lactobacillus casei therapy	Bongaerts, G.P.A.; Vrancken, S.L.A.G.; Draaisma, J.M.T.; Weemaes, C.M.R.; Severijnen, R.S.V.M.
	2006	Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.	Hiel, J.A.P.; Engelen, B.G.M. van; Weemaes, C.M.R.; Broeks, A.; Verrips, A.; Laak, H.J. ter; Vingerhoets, H.M.; Heuvel, L.P.W.J. van den; Lammens, M.M.Y.; Gabreëls, F.J.M.; Last, J.I.; Taylor, A.M.R.
	2006	Chronic herpes simplex virus encephalitis in childhood.	Leen, W.G.; Weemaes, C.M.R.; Verbeek, M.M.; Willemsen, M.A.A.P.; Rotteveel, J.J.
	2006	B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells.	Burg, M. van der; Weemaes, C.M.R.; Preijers, F.W.M.B.; Brons, P.P.T.; Barendregt, B.H.; Tol, M. van; Hoogerbrugge, P.M.; Dongen, J.J.M. van
	2006	Critical aneurysmal dilatation of the thoracic aorta in young adolescents with variant hyperimmunoglobulin E syndrome.	Meer, J.W.M. van der; Weemaes, C.M.R.; Krieken, J.H.J.M. van; Blomjous, C.E.M.; Die, C.E. van; Netea, M.G.; Bredie, S.J.H.
	2006	Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections.	Sprong, T.; Roos, D.; Weemaes, C.M.R.; Neeleman, C.; Geesing, C.L.; Mollnes, T.E.; Deuren, M. van
	2005	Sustained viral suppression and immune recovery in HIV type 1-infected children after 4 years of highly active antiretroviral therapy.	Fraaij, P.L.; Verweel, G.; Rossum, A.M. van; Lochem, E.G. van; Schutten, M.; Weemaes, C.M.R.; Hartwig, N.G.; Burger, D.M.; Groot, R. de
	2005	The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.	Halbertsma, F.J.; Neeleman, C.; Weemaes, C.M.R.; Deuren, M. van
	2005	Cytokine responses and regulation of interferon-gamma release by human mononuclear cells to Aspergillus fumigatus and other filamentous fungi.	Warris, A.; Netea, M.G.; Verweij, P.E.; Gaustad, P.; Kullberg, B.J.; Weemaes, C.M.R.; Abrahamsen, T.G.
	2004	Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.	Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A. van der; Otten, B.J.
	2004	The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.	Janssen, R.J.R.J.; Wengen, A. van; Hoeve, M.A.; Dam, M. ten; Burg, M. van der; Dongen, J.J.M. van; Vosse, E. van de; Tol, M. van; Bredius, R.G.; Ottenhoff, T.H.M.; Weemaes, C.M.R.; Dissel, J.T. van; Lankester, A.W.
	2001	Common variable immunodeficiency (CVID) in a family: an autosomal dominant mode of inheritance	Nijenhuis, T.; Klasen, I.; Weemaes, C.M.R.; Preijers, F.; Vries, E. de; Meer, J.W.M. van der
	2001	Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome	Klasen, I.S.; Goertz, J.H.C.; Wiel, G.A.S. van de; Weemaes, C.M.R.; Meer, J.W.M. van der; Drenth, J.P.H.
	1997	Het chronische-vermoeidheidsyndroom bij jongeren	Jong, L.W.A.M. de; Prins, J.B.; Fiselier, T.J.W.; Weemaes, C.M.R.; Meijer-van den Bergh, E.M.M.; Bleijenberg, G.
	1997	T cell subsets and T cell function in cartilage-hair hypoplasia	Kooijman, R.; Burgt, C.J.A.M. van der; Weemaes, C.M.R.; Haraldsson, A.; Scholtens, E.J.; Zegers, B.J.M.
	1997	Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen Breakage Syndrome at chromosome 8q21-24	Matsuura, S.; Weemaes, C.M.R.; Smeets, D.F.C.M.; Takami, H.; Kondo, N.; Sakamoto, S.; Yano, N.; Nakamura, A.; Tauchi, H.; Endo, S.; Oshimura, M.; Komatsu, K.
	1996	Can human polyclonal immunoglobulin raise the threshold for convulsions in rats.	Engelen, B.G.M. van; Beukel, I. van den; Voskuyl, R.A.; Weemaes, C.M.R.; Renier, W.O.
	1996	The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11	Komatsu, K.; Matsuura, S.; Tauchi, H.; Endo, S.; Kodama, S.; Smeets, D.F.C.M.; Weemaes, C.M.R.; Oshimura, M.
	1996	Nijmegen breakage syndrome	Burgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
	1996	Neuro immunologische aspecten van maligne kinderepilepsieën	Engelen, B.G.M. van; Renier, W.O.; Weemaes, C.M.R.
	1996	Nijmegen Breakage syndrome	Burgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
	1996	Nijmegen breakage syndrome	Burgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
	1996	First patients with hyperimmunoglobulinemia D syndrome from the United States	Drenth, J.P.H.; Weemaes, C.M.R.
	1996	CD4 deficiency in myelodysplastic syndrome with monosomy 7	Weemaes, C.M.R.; Preijers, F.W.M.B.; Vaan, G.A.M. de; Bakkeren, J.A.J.; Klasen, I.S.; Haraldsson, A.
	1995	Immunoglobulin treatment in human and experimental epilepsy	Engelen, B.G.M. van; Renier, W.O.; Weemaes, C.M.R.
	1995	Immunological aspects of cryptogenic therapy resistant epilepsies in infancy and childhood	Renier, W.O.; Engelen, B.G.M. van; Weemaes, C.M.R.
	1995	A dysbalanced immune system in cryptogenic Lennox-Gastaut syndrome	Engelen, B.G.M. van; Weemaes, C.M.R.; Renier, W.O.; Bakkeren, J.A.J.M.; Borm, G.F.; Strengers, P.F.W.

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