Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study (Q43809547)

27 November 2017

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study (English)

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27 November 2017

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Annegien Broeks

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27 November 2017

8

Nico M Wulffraat

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27 November 2017

5

Nel Roeleveld

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27 November 2017

32

Marcel van Deuren

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27 November 2017

Mijke M M Verhagen

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27 November 2017

James I Last

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27 November 2017

Frans B L Hogervorst

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27 November 2017

Dominique F C M Smeets

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27 November 2017

Frans Verheijen

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27 November 2017

Coriene E Catsman-Berrevoets

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27 November 2017

Jan M Cobben

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27 November 2017

Johan Hiel

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27 November 2017

Ewout R Brunt

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27 November 2017

Els A J Peeters

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27 November 2017

Encarna B Gómez Garcia

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27 November 2017

Marjo S van der Knaap

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27 November 2017

Carsten R Lincke

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27 November 2017

Laura A E M Laan

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27 November 2017

Marina A J Tijssen

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27 November 2017

Monique A van Rijn

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27 November 2017

Danielle Majoor-Krakauer

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27 November 2017

Marjan Visser

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27 November 2017

Laura J van 't Veer

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27 November 2017

Wim J Kleijer

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27 November 2017

Bart P C van de Warrenburg

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27 November 2017

Adilia Warris

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27 November 2017

Imelda J M de Groot

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27 November 2017

Ronald de Groot

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27 November 2017

Frank Preijers

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27 November 2017

Berry H P H Kremer

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27 November 2017

Corry M R Weemaes

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27 November 2017

Malcolm A M R Taylor

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27 November 2017

Michèl A A P Willemsen

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27 November 2017

25 January 2012

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27 November 2017

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27 November 2017

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27 November 2017

561-571

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27 November 2017

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Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

27 November 2017

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

The spectrum of ATM missense variants and their contribution to contralateral breast cancer

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Increased risk of breast cancer following irradiation for Hodgkin's disease is not a result of ATM germline mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Nonaminoglycoside compounds induce readthrough of nonsense mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

ATM regulates a DNA damage response posttranscriptional RNA operon in lymphocytes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Radiosensitivity in ataxia-telangiectasia: a new explanation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

ATM is required for efficient recombination between immunoglobulin switch regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Further delineation of the Nijmegen breakage syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

Genetic and cellular features of ataxia telangiectasia

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Clinical spectrum of ataxia-telangiectasia in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Attenuated presentation of ataxia-telangiectasia with familial cancer history

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

7 January 2021

Ataxia telangiectasia: the consequences of a delayed diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22016

7 January 2021

Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study

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https://api.crossref.org/works/10.1002%2FHUMU.22016

7 January 2021

Ataxia-Telangiectasia and mechanical ventilation: a word of caution

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https://api.crossref.org/works/10.1002%2FHUMU.22016

7 January 2021

Unusual features in the inheritance of ataxia telangiectasia

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https://api.crossref.org/works/10.1002%2FHUMU.22016

7 January 2021

Identifiers

DOI

10.1002/HUMU.22016

1 reference

27 November 2017

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