Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Por Jackson Kelly, Ehrlich Melanie, Weemaes Corry
Publicado em 2006-03-01

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Por Ehrlich, Melanie, Jackson, Kelly, Weemaes, Corry
Publicado em 2006

Educational paper: Syndromic forms of primary immunodeficiency

Por Kersseboom, Rogier, Brooks, Alice, Weemaes, Corry
Publicado em 2011

Failure To Detect Circulating Aspergillus Markers in a Patient with Chronic Granulomatous Disease and Invasive Aspergillosis

Por Verweij, Paul E., Weemaes, Corry M., Curfs, Jo H. A. J., Bretagne, Stephane, Meis, Jacques F. G. M.
Publicado em 2000

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

Por Hansen, R. Scott, Wijmenga, Cisca, Luo, Ping, Stanek, Ann M., Canfield, Theresa K., Weemaes, Corry M. R., Gartler, Stanley M.
Publicado em 1999

IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation

Por Langereis, Jeroen D., Henriet, Stefanie S, Kuipers, Saskia, Weemaes, Corry M.R., van der Burg, Mirjam, de Jonge, Marien I., van der Flier, Michiel
Publicado no J Clin Immunol (2018)

Hyper-Immunoglobulin A in the Hyperimmunoglobulinemia D Syndrome

Por Klasen, Ina S., Göertz, Joop H. C., van de Wiel, Gertrude A. S., Weemaes, Corry M. R., van der Meer, Jos W. M., Drenth, Joost P. H.
Publicado em 2001

Immunodeficiency in Bloom’s Syndrome

Por Schoenaker, Michiel H. D., Henriet, Stefanie S., Zonderland, Jip, van Deuren, Marcel, Pan-Hammarström, Qiang, Posthumus-van Sluijs, Sandra J., Pico-Knijnenburg, Ingrid, Weemaes, Corry M. R., IJspeert, Hanna
Publicado no J Clin Immunol (2017)

The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes

Por Janssen, Riny, van Wengen, Annelies, Hoeve, Marieke A., ten Dam, Monique, van der Burg, Miriam, van Dongen, Jacques, van de Vosse, Esther, van Tol, Maarten, Bredius, Robbert, Ottenhoff, Tom H., Weemaes, Corry, van Dissel, Jaap T., Lankester, Arjan
Publicado em 2004

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Por Weemaes, Corry MR, van Tol, Maarten JD, Wang, Jun, van Ostaijen-ten Dam, Monique M, van Eggermond, Marja CJA, Thijssen, Peter E, Aytekin, Caner, Brunetti-Pierri, Nicola, van der Burg, Mirjam, Graham Davies, E, Ferster, Alina, Furthner, Dieter, Gimelli, Giorgio, Gennery, Andy, Kloeckener-Gruissem, Barbara, Meyn, Stephan, Powell, Cynthia, Reisli, Ismail, Schuetz, Catharina, Schulz, Ansgar, Shugar, Andrea, van den Elsen, Peter J, van der Maarel, Silvère M
Publicado em 2013

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado no Nat Commun (2015)

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado no Nat Commun (2016)

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Por de Greef, Jessica C., Wang, Jun, Balog, Judit, den Dunnen, Johan T., Frants, Rune R., Straasheijm, Kirsten R., Aytekin, Caner, van der Burg, Mirjam, Duprez, Laurence, Ferster, Alina, Gennery, Andrew R., Gimelli, Giorgio, Reisli, Ismail, Schuetz, Catharina, Schulz, Ansgar, Smeets, Dominique F.C.M., Sznajer, Yves, Wijmenga, Cisca, van Eggermond, Marja C., van Ostaijen-ten Dam, Monique M., Lankester, Arjan C., van Tol, Maarten J.D., van den Elsen, Peter J., Weemaes, Corry M., van der Maarel, Silvère M.
Publicado em 2011