N
Nienke J H van Os
Researcher at Radboud University Nijmegen
Publications - 12
Citations - 221
Nienke J H van Os is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Ataxia-telangiectasia & Ataxia. The author has an hindex of 5, co-authored 9 publications receiving 131 citations. Previous affiliations of Nienke J H van Os include Boston Children's Hospital.
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Journal ArticleDOI
Ataxia-telangiectasia:: Immunodeficiency and survival
Nienke J H van Os,Anne F.M. Jansen,Marcel van Deuren,Ásgeir Haraldsson,Nieke T.M. van Driel,Amos Etzioni,Michiel van der Flier,Charlotte A. Haaxma,Tomohiro Morio,Amit Rawat,M.H.D. Schoenaker,Annarosa Soresina,Alex M. Taylor,Bart P.C. van de Warrenburg,Corry M.R. Weemaes,Nel Roeleveld,Michèl A.A.P. Willemsen +16 more
TL;DR: It is shown that classical AT patients had a shorter survival than variant patients, especially once a malignancy was diagnosed, and patients with the hyper IgM phenotype with hypogammaglobulinemia (AT-HIGM) and Patients with an IgG2 deficiency showed decreased survival.
Journal ArticleDOI
Ataxia-telangiectasia: recommendations for multidisciplinary treatment
Nienke J H van Os,Charlotte A. Haaxma,Michiel van der Flier,Peter J. F. M. Merkus,Marcel van Deuren,Imelda J. M. de Groot,Jan Loeffen,Bart P.C. van de Warrenburg,Michèl A.A.P. Willemsen +8 more
TL;DR: This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia‐telangiectasia in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition.
Journal ArticleDOI
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
Katherine Schon,Nienke J H van Os,Nicholas Oscroft,Helen Baxendale,Daniel Scoffings,Julian Ray,Mohnish Suri,William P Whitehouse,William P Whitehouse,Puja R Mehta,Natasha Everett,Leonardo Bottolo,Leonardo Bottolo,Bart P.C. van de Warrenburg,Philip J. Byrd,Corry M.R. Weemaes,Michèl A.A.P. Willemsen,Marc Tischkowitz,Marc Tischkowitz,A. Malcolm R. Taylor,Anke E Hensiek,Anke E Hensiek +21 more
TL;DR: The clinical features of the largest established cohort of individuals with variant ataxia‐telangiectasia are described and genotype‐phenotype correlations are explored.
Journal ArticleDOI
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
Nienke J H van Os,Luciana Chessa,Corry M.R. Weemaes,Marcel van Deuren,Alice Fiévet,Judith van Gaalen,Nizar Mahlaoui,Nel Roeleveld,Christoph Schrader,Detlev Schindler,Alex M. Taylor,Bart P.C. van de Warrenburg,Thilo Dörk,Michèl A.A.P. Willemsen +13 more
TL;DR: Compared with 51 patients with classic A-T from the Dutch cohort, patients with ATM c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency.
Journal ArticleDOI
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
Nienke J H van Os,Nienke J H van Os,Marcel van Deuren,Corry M.R. Weemaes,Judith van Gaalen,Helma Hijdra,Alex M. Taylor,Bart P.C. van de Warrenburg,Michèl A.A.P. Willemsen +8 more
TL;DR: In this article, the authors search the literature for descriptions of classic ataxia-telangiectasia (A-T) patients who survived beyond the age of 30 years.