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1

Chromosome instability syndromes

Taylor, A. Malcolm R., Rothblum-Oviatt, Cynthia, Ellis, Nathan A., Hickson, Ian D., Meyer, Stefan, Crawford, Thomas O., Smogorzewska, Agata, Pietrucha, Barbara, Weemaes, Corry, Stewart, Grant S.

Journal:

Nature Reviews Disease Primers

Année:

2019

Langue:

english

Fichier:

PDF, 6.45 MB

english, 2019

2

XLA Patients withBTKSplice-Site Mutations Produce Low Levels of Wild-TypeBTKTranscripts

Jeroen G. Noordzij, Sandra de Bruin-Versteeg, Nico G. Hartwig, Corry M.R. Weemaes, Egbert J.A. Gerritsen, Eva Bernatowska, Stefaan van Lierde, Ronald de Groot, Jacques J.M. van Dongen

Journal:

Journal of Clinical Immunology

Année:

2002

Langue:

english

Fichier:

PDF, 264 KB

english, 2002

3

Rituximab and Intravenous Immunoglobulins for Relapsing Postinfectious Opsoclonus-Myoclonus Syndrome

Wilhelmina G. Leen, Corry M. Weemaes, Marcel M. Verbeek, Michèl A. Willemsen, Jan J. Rotteveel

Journal:

Pediatric Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 81 KB

english, 2008

4

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

Melanie Ehrlich, Kelly Jackson, Corry Weemaes

Journal:

Orphanet Journal of Rare Diseases

Année:

2006

Langue:

english

Fichier:

PDF, 313 KB

english, 2006

5

Further delineation of the Nijmegen breakage syndrome

Rob D. F. M. Taalman, Theo W. J. Hustinx, Dr. Corry M. R. Weemaes, Eva Seemanová, Angela Schmidt, Eberhard Passarge, Jacques M. J. C. Scheres

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 687 KB

english, 1989

6

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

Ineke Van Der Burgt, Asgeir Haraldsson, Jan C. Oosterwijk, Anthonie J. van Essen, Corry Weemaes, Ben Hamel

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 937 KB

english, 1991

7

Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis

Ben A. Semmekrot, Asgeir Haraldsson, Corry M. R. Weemaes, Dominique F. C. M. Smeets, Wil B. Geven, Han G. Brunner

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 503 KB

english, 1992

8

Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome

Michiel van den Brand, Uta E. Flucke, Peter Bult, Corry M.R. Weemaes, Marcel van Deuren

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2011

9

Severe combined immunodeficiency in man with an absence of immunoglobulin gene rearrangements but normal T cell receptor assembly

Allan Thompson, Rudolf W. Hendriks, Margriet E. M. Kraakman, Frits Koning, Renée Langlois-Van Den Bergh, Jaak M. Vossen, Corry M. R. Weemaes, Ruud K. B. Schuurman

Journal:

European Journal of Immunology

Année:

1990

Langue:

english

Fichier:

PDF, 626 KB

english, 1990

10

Relapsing hepatitis due to cytomegalovirus?

Jochem M.D. Galama, Jos W.M. van der Meer, Ivo van Munster, Corry R.M. Weemaes

Journal:

Journal of Infection

Année:

1991

Langue:

english

Fichier:

PDF, 1.04 MB

english, 1991

11

Light chain ratios and concentrations of serum immunoglobulins in children with epilepsy

Ásgeir Haraldsson, Baziel G.M. van Engelen, Willy O. Renier, Jan A.J.M. Bakkeren, Corry M.R. Weemaes

Journal:

Epilepsy Research

Année:

1992

Langue:

english

Fichier:

PDF, 567 KB

english, 1992

12

Cerebrospinal fluid examinations in cryptogenic West and Lennox-Gastaut syndrome before and after intravenous immunoglobulin administration

Baziel G.M van Engelen, Willy O Renier, Corry M.R Weemaes, Karel J.B Lamers, Fons J.M Gabreels, Harry Meinardi

Journal:

Epilepsy Research

Année:

1994

Langue:

english

Fichier:

PDF, 995 KB

english, 1994

13

Serologie HLA typing in cryptogenic Lennox-Gastaut syndrome

Baziel G.M. van Engelen, Leo P. de Waal, Corry M.R. Weemaes, Willy O. Renier

Journal:

Epilepsy Research

Année:

1994

Langue:

english

Fichier:

PDF, 422 KB

english, 1994

14

Unusual and severe disease course in a child with ataxia-telangiectasia

Isabelle Meyts, Corry Weemaes, Chris De Wolf-Peeters, Marijke Proesmans, Marleen Renard, An Uyttebroeck, Kris De Boeck

Journal:

Pediatric Allergy and Immunology

Année:

2003

Langue:

english

Fichier:

PDF, 81 KB

english, 2003

15

Ataxia-Telangiectasia and mechanical ventilation: A word of caution

Mijke M.M. Verhagen, Jan-Bart Yntema, Corry M.R. Weemaes, Michèl A.A.P. Willemsen, Mijke M.M. Verhagen, Marcel van Deuren, Hans J. Van der Hoeven, Chris Neeleman, Yvonne F. Heijdra

Journal:

Pediatric Pulmonology

Année:

2009

Langue:

english

Fichier:

PDF, 38 KB

english, 2009

16

Letter to the editor: Ataxia-Telangiectasia and mechanical ventilation: A word of caution

Mijke M.M. Verhagen, Marcel van Deuren, Michèl A.A. P. Willemsen, Hans J. van der Hoeven, Yvonne F. Heijdra, Jan-Bart Yntema, Corry M.R. Weemaes, Chris Neeleman

Journal:

Pediatric Pulmonology

Année:

2009

Langue:

english

Fichier:

PDF, 28 KB

english, 2009

17

Pulmonary function tests in patients with ataxia-telangiectasia: Obstructive or restrictive lung dysfunction?

Chris Neeleman, Mijke Verhagen, Marcel van Deuren, Michèl Willemsen, Hans van der Hoeven, Jan Bart Yntema, Corry Weemaes, Yvonne Heijdra

Journal:

Pediatric Pulmonology

Année:

2010

Langue:

english

Fichier:

PDF, 34 KB

english, 2010

18

ICF syndrome: a new case and review of the literature

Dominique F. C. M. Smeets, Ute Moog, Corry M. R. Weemaes, G. Vaes-Peeters, Gerard F. M. Merkx, Jeanette P. Niehof, Guus Hamers

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 3.27 MB

english, 1994

19

Clinical and immunological studies in patients with an increased serum IgD level

Idske Hiemstra, Jaak M. Vossen, Jos W. M. Meer, Corrie M. R. Weemaes, Theo A. Out, Ben J. M. Zegers

Journal:

Journal of Clinical Immunology

Année:

1989

Langue:

english

Fichier:

PDF, 911 KB

english, 1989

20

Educational paper

Rogier Kersseboom, Alice Brooks, Corry Weemaes

Journal:

European Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 652 KB

english, 2011

21

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia

M. J. van Belzen, Johan A. P. Hiel, Corry M. R. Weemaes, F. J. M. Gabreëls, Baziel G. M. van Engelen, Dominique F. C. M. Smeets, L. P. W. J. van den Heuvel

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 126 KB

english, 1998

22

Immunoglobulin treatment in epilepsy, a review of the literature

Baziel G.M. van Engelen, Willy O. Renier, Corry M.R. Weemaes, Fons J.M. Gabreels, Harry Meinardi

Journal:

Epilepsy Research

Année:

1994

Langue:

english

Fichier:

PDF, 1.02 MB

english, 1994

23

Immunohistochemical features of cutaneous granulomas in primary immunodeficiency disorders: a comparison with cutaneous sarcoidosis

Michelle De Jager, Willeke Blokx, Adilia Warris, Mieke Bergers, Monique Link, Corry Weemaes, Marieke Seyger

Journal:

Journal of Cutaneous Pathology

Année:

2008

Langue:

english

Fichier:

PDF, 330 KB

english, 2008

24

Immunodeficiency in a child with partial trisomy 6p

Ingeborg Y Bart, Corry MR Weemaes, Anke R Schuitema-Dijkstra, Dominique Smeets, Esther de Vries

Journal:

Acta Paediatrica

Année:

2011

Langue:

english

Fichier:

PDF, 89 KB

english, 2011

25

Neuropathology in classical and variant ataxia-telangiectasia

Mijke M.M. Verhagen, Jean-Jacques Martin, Marcel van Deuren, Chantal Ceuterick-de Groote, Corry M.R. Weemaes, Berry H.P.H. Kremer, Malcolm A.R. Taylor, Michèl A.A.P. Willemsen, Martin Lammens

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 465 KB

english, 2012

26

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia

Kanji Matsuura, Timur Balmukhanov, Hiroshi Tauchi, Corry Weemaes, Domique Smeets, Krystyna Chrzanowska, Satoru Endou, Shinnya Matsuura, Kenshi Komatsu

Journal:

Biochemical and Biophysical Research Communications

Année:

1998

Langue:

english

Fichier:

PDF, 131 KB

english, 1998

27

NBS1 Recruits RAD18 via a RAD6-like Domain and Regulates Pol η-Dependent Translesion DNA Synthesis

Hiromi Yanagihara, Junya Kobayashi, Satoshi Tateishi, Akihiro Kato, Shinya Matsuura, Hiroshi Tauchi, Kouichi Yamada, Jun Takezawa, Kaoru Sugasawa, Chikahide Masutani, Fumio Hanaoka, Corry M. Weemaes,

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 979 KB

english, 2011

28

Chronic Herpes Simplex Virus Encephalitis in Childhood

Wilhelmina G. Leen, Corry M. Weemaes, Marcel M. Verbeek, Michèl A. Willemsen, Jan J. Rotteveel

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 140 KB

english, 2006

29

Clinical and virologic response to combination treatment with indinavir, zidovudine, and lamivudine in children with human immunodeficiency virus-1 infection: A multicenter study in The Netherlands

Annemarie M.C. van Rossum, Hubert G.M. Niesters, Sibyl P.M. Geelen, Henriëtte J. Scherpbier, Nico G. Hartwig, Corrie M.R. Weemaes, Arjo J.P. Veerman, Marja H. Suur, Elizabeth R. de Graeff-Meeder, Wale

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 1.83 MB

english, 2000

30

Can human polyclonal immunoglobulin raise the threshold for convulsions in rats?

Baziel G.M. Van Engelen, Ingeborg Van Den Beukel, Rob A. Voskuyl, Corry M.R. Weemaes, Willy O. Renier

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 922 KB

english, 1996

31

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype

Karen M. Cerosaletti, Ethan Lange, Heather M. Stringham, Corry M.R. Weemaes, Dominique Smeets, B. Sölder, B.H. Belohradsky, A. Malcolm R. Taylor, Pamela Karnes, Alison Elliott, Kenshi Komatsu, Richard

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 156 KB

english, 1998

32

Genetic Mapping Using Microcell-Mediated Chromosome Transfer Suggests a Locus for Nijmegen Breakage Syndrome at Chromosome 8q21-24

Shinya Matsuura, Corry Weemaes, Dominique Smeets, Hideki Takami, Noriko Kondo, Shuuichi Sakamoto, Nozomi Yano, Asako Nakamura, Hiroshi Tauchi, Satoru Endo, Mitsuo Oshimura, Kenshi Komatsu

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 123 KB

english, 1997

33

Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils

Ron S. Weening, Lesley H. Adriaansz, Corry M.R. Weemaes, René Lutter, Dirk Roos

Journal:

The Journal of Pediatrics

Année:

1985

Langue:

english

Fichier:

PDF, 271 KB

english, 1985

34

Cytokine responses and regulation of interferon-gamma release by human mononuclear cells to Aspergillus fumigatus and other filamentous fungi

Warris, Adilia, Netea, Mihai G., Verweij, Paul E., Gaustad, Peter, Kullberg, Bart-Jan, Weemaes, Corry M. R., Abrahamsen, Tore G.

Journal:

Medical Mycology

Année:

2005

Langue:

english

Fichier:

PDF, 146 KB

english, 2005

35

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity

Driessen, Gertjan J., IJspeert, Hanna, Weemaes, Corry M.R., Haraldsson, Ásgeir, Trip, Margreet, Warris, Adilia, van der Flier, Michiel, Wulffraat, Nico, Verhagen, Mijke M.M., Taylor, Malcolm A., van Z

Journal:

Journal of Allergy and Clinical Immunology

Année:

2013

Langue:

english

Fichier:

PDF, 755 KB

english, 2013

36

Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene

de Boer, Martin, van Leeuwen, Karin, Geissler, Judy, Weemaes, Corry M., van den Berg, Timo K., Kuijpers, Taco W., Warris, Adilia, Roos, Dirk

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2014

37

The DNMT3B DNA Methyltransferase Gene Is Mutated in the ICF Immunodeficiency Syndrome

R. Scott Hansen, Cisca Wijmenga, Ping Luo, Ann M. Stanek, Theresa K. Canfield, Corry M. R. Weemaes and Stanley M. Gartler

Journal:

Proceedings of the National Academy of Sciences

Année:

1999

Langue:

english

Fichier:

PDF, 1.97 MB

english, 1999

38

Cognitive and speech-language performance in children with ataxia telangiectasia

Vinck, Anja, Verhagen, Mijke M. M., Gerven, Marjo van, de Groot, Imelda J. M., Weemaes, Corry M. R., Maassen, Ben A. M., Willemsen, Michel A. A. P.

Journal:

Developmental Neurorehabilitation

Année:

2011

Langue:

english

Fichier:

PDF, 125 KB

english, 2011

39

Gastrointestinal zygomycosis due to Rhizopus microsporus var. rhizopodiformis as a manifestation of chronic granulomatous disease

Dekkers, Roel, Verweij, Paul E., Weemaes, Corry M. R., Severijnen, René S. V. M., Van Krieken, Johan H. J. M., Warris, Adilia

Journal:

Medical Mycology

Année:

2008

Langue:

english

Fichier:

PDF, 225 KB

english, 2008

40

Postmortem Findings in the Nijmegen Breakage Syndrome

Kaa, Christina A. Van de, Weemaes, Corry M. R., Wesseling, Pieter, Schaafsma, H. Ewout, Haraldsson, Asgeir, De Weger, Roel A.

Journal:

Fetal and Pediatric Pathology

Année:

1994

Langue:

english

Fichier:

PDF, 1.84 MB

english, 1994

41

Results of 2 Years of Treatment with Protease‐Inhibitor–Containing Antiretroviral Therapy in Dutch Children Infected with Human Immunodeficiency Virus Type 1

van Rossum, Annemarie M. C., Geelen, Sibyl P. M., Hartwig, Nico G., Wolfs, Tom F. W., Weemaes, Corry M. R., Scherpbier, Henriette J., van Lochem, Ellen G., Hop, Wim C. J., Schutten, Martin, Osterhaus,

Journal:

Clinical Infectious Diseases

Année:

2002

Langue:

english

Fichier:

PDF, 131 KB

english, 2002

42

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

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 D

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 550 KB

english, 2013

43

Stiehm's Immune Deficiencies || Centromeric Instability in ICF Syndrome

Weemaes, Corry M.R.

Année:

2014

Langue:

english

Fichier:

PDF, 374 KB

english, 2014

44

Multidrug Resistance in Aspergillus fumigatus

Warris, Adilia, Weemaes, Corry M., Verweij, Paul E.

Journal:

Boston Medical and Surgical Journal

Année:

2002

Langue:

english

Fichier:

PDF, 164 KB

english, 2002

45

Successful Treatment with Voriconazole of Invasive Aspergillosis in Chronic Granulomatous Disease

van ‘t HEK, LOUIS G., VERWEIJ, PAUL E., WEEMAES, CORRY M., van DALEN, ROELOF, YNTEMA, JAN-BART, MEIS, JACQUES F.

Journal:

American Journal of Respiratory and Critical Care Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 72 KB

english, 1998

46

Recurrent and Opportunistic Infections in Children With Primary Intestinal Lymphangiectasia

Dierselhuis, Miranda P, Boelens, Jaap Jan, Versteegh, Florens GA, Weemaes, Corry, Wulffraat, Nico M

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2007

Langue:

english

Fichier:

PDF, 126 KB

english, 2007

47

Therapeutic drug monitoring of indinavir and nelfinavir to assess adherence to therapy in human immunodeficiency virus-infected children

VAN ROSSUM, ANNEMARIE M. C., BERGSHOEFF, ALINA S., FRAAIJ, PIETER L. A., HUGEN, PATRICIA W. H., HARTWIG, NICO G., GEELEN, SIBYL P. M., WOLFS, TOM F. W., WEEMAES, CORRY M. R., DE GROOT, RONALD, BURGER,

Journal:

Pediatric Infectious Disease Journal

Année:

2002

Langue:

english

Fichier:

PDF, 127 KB

english, 2002

48

Successful Treatment of Hodgkin Lymphoma in Nijmegen Breakage Syndrome

Jovanovic, Ankica, Minic, Predrag, Scekic-Guc, Marija, Djuricic, Slavisa, Cirkovic, Sanja, Weemaes, Corry, Pasic, Srdjan

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2009

Langue:

english

Fichier:

PDF, 87 KB

english, 2009

49

378 ICF SYNDROME

Weemaes, Corry, Smeets, Dominique, Bakkeren, Jan, Burgt, Ineke V D

Journal:

Pediatric Research

Année:

1994

Langue:

english

Fichier:

PDF, 139 KB

english, 1994

50

Immunodeficiency in Bloom’s Syndrome

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,

Journal:

Journal of Clinical Immunology

Année:

2017

Langue:

english

Fichier:

PDF, 1.91 MB

english, 2017