Publications by authors named "Corry Weemaes"

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The ATTeST trial in ataxia telangiectasia: some concerns.
Michèl A A P Willemsen, Nienke J H van Os, Nel Roeleveld, Corry M R Weemaes

Lancet Neurol· March 2025

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Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.
Dagmar Berghuis, Lubna S Mehyar, Rolla Abu-Arja, Michael H Albert, Jessie L Barnum, Corry M R Weemaes

J Clin Immunol· August 2024

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Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
Sanami Takada, Thomas J Weitering, Nienke J H van Os, Likun Du, Ingrid Pico-Knijnenburg, Corry M R Weemaes

J Allergy Clin Immunol· May 2024

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Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Stefanie J G Veenhuis, Nienke J H van Os, Anjo J W M Janssen, Marjo H J C van Gerven, Karlien L M Coene, Corry M R Weemaes

Mov Disord· December 2021

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Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia.
Thomas J Weitering, Janine E Melsen, Monique M van Ostaijen-Ten Dam, Corry M R Weemaes, Marco W Schilham

Front Immunol· October 2021

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Dysarthria in children and adults with ataxia telangiectasia.
Stefanie J G Veenhuis, Nienke J H van Os, Marjo H J C van Gerven, Leenke van Haaften, Elisabeth H Mulder, Corry M R Weemaes

Dev Med Child Neurol· April 2021

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ATM: Translating the DNA Damage Response to Adaptive Immunity.
Thomas J Weitering, Sanami Takada, Corry M R Weemaes, Pauline A van Schouwenburg, Mirjam van der Burg

Trends Immunol· April 2021

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The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Mark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, Sjoert Pegge, Grazia Mancini, Corry Weemaes

Pediatr Neurol· December 2020

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Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Maartje Blom, Michiel H D Schoenaker, Myrthe Hulst, Martine C de Vries, Corry M R Weemaes

Front Immunol· November 2020

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Classic ataxia-telangiectasia: the phenotype of long-term survivors.
Nienke J H van Os, Marcel van Deuren, Corry M R Weemaes, Judith van Gaalen, Helma Hijdra

J Neurol· March 2020

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Chromosome instability syndromes.
A Malcolm R Taylor, Cynthia Rothblum-Oviatt, Nathan A Ellis, Ian D Hickson, Stefan Meyer, Corry Weemaes

Nat Rev Dis Primers· September 2019

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Genotype-phenotype correlations in ataxia telangiectasia patients with c.3576G>A and c.8147T>C mutations.
Nienke J H van Os, Luciana Chessa, Corry M R Weemaes, Marcel van Deuren, Alice Fiévet

J Med Genet· May 2019

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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Katherine Schon, Nienke J H van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Corry Weemaes

Ann Neurol· February 2019

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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Nienke J H van Os, Anke Hensiek, Judith van Gaalen, Alexander M R Taylor, Marcel van Deuren, Corry M R Weemaes

Neurology· January 2019

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IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation.
Jeroen D Langereis, Stefanie S Henriet, Saskia Kuipers, Corry M R Weemaes, Mirjam van der Burg

J Clin Immunol· February 2018

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Immunodeficiency in Bloom's Syndrome.
Michiel H D Schoenaker, Stefanie S Henriet, Jip Zonderland, Marcel van Deuren, Qiang Pan-Hammarström, Corry M R Weemaes

J Clin Immunol· January 2018

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Ataxia-telangiectasia: Immunodeficiency and survival.
Nienke J H van Os, Anne F M Jansen, Marcel van Deuren, Asgeir Haraldsson, Nieke T M van Driel, Corry M R Weemaes

Clin Immunol· May 2017

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Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Corry Weemaes

Nat Commun· June 2016

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Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Corry Weemaes

Nat Commun· July 2015

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Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.
Martin de Boer, Karin van Leeuwen, Judy Geissler, Corry M Weemaes, Timo K van den Berg

Hum Mutat· April 2014

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Corry M R Weemaes, Maarten J D van Tol, Jun Wang, Monique M van Ostaijen-ten Dam, Marja C J A van Eggermond

Eur J Hum Genet· November 2013

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Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Gertjan J Driessen, Hanna Ijspeert, Corry M R Weemaes, Ásgeir Haraldsson, Margreet Trip

J Allergy Clin Immunol· May 2013

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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

Neuropathology· June 2012

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Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Mijke M M Verhagen, James I Last, Frans B L Hogervorst, Dominique F C M Smeets, Nel Roeleveld, Corry M R Weemaes

Hum Mutat· March 2012

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