(Q34037422)

30 July 2017

New mutations in the ATM gene and clinical data of 25 AT patients (English)

1 reference

30 July 2017

24

Thilo Dörk

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Hanna Gregorek

Hanna Gregorek

9

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Ilja Demuth

Ilja Demuth

1

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Krystyna Chrzanowska

Krystyna H Chrzanowska

7

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Luitgard Graul-Neumann

10

Luitgard M Graul-Neumann

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30 July 2017

4

Heidemarie Neitzel

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30 July 2017

5

Detlev Schindler

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30 July 2017

2

Véronique Dutrannoy

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30 July 2017

25

Martin Digweed

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30 July 2017

Raymonda Varon-Mateeva

29

Raymonda Varon

1 reference

30 July 2017

Wilson Marques

3

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30 July 2017

Petja S Dimova

6

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30 July 2017

Veneta Bojinova

8

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30 July 2017

Arpad von Moers

11

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30 July 2017

Ilka Schulze

12

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30 July 2017

Marion Nicke

13

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30 July 2017

Elcin Bora

14

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30 July 2017

Tufan Cankaya

15

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30 July 2017

Éva Oláh

16

1 reference

30 July 2017

Csongor Kiss

17

1 reference

30 July 2017

Beáta Bessenyei

18

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30 July 2017

Katalin Szakszon

19

1 reference

30 July 2017

Ursula Gruber-Sedlmayr

20

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30 July 2017

Peter Michael Kroisel

21

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30 July 2017

Sigrun Sodia

22

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30 July 2017

Timm O Goecke

23

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30 July 2017

Karl Sperling

26

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30 July 2017

Joaquim de Sá

27

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30 July 2017

Charles Marques Lourenco

28

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30 July 2017

language of work or name

English

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publication date

2 October 2011

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30 July 2017

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30 July 2017

12

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30 July 2017

4

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30 July 2017

273-282

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https://scigraph.springernature.com/pub.10.1007/s10048-011-0299-0

30 July 2017

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cites work

The genetic defect in ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Multiple autophosphorylation sites are dispensable for murine ATM activation in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

The ATM-mediated DNA-damage response: taking shape.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

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/10.1007%2FS10048-011-0299-0

Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

BrdU-Hoechst flow cytometry: a unique tool for quantitative cell cycle analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

G2 phase cell cycle disturbance as a manifestation of genetic cell damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Ataxia-telangiectasia: founder effect among north African Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Clinical spectrum of ataxia-telangiectasia in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Predominance of null mutations in ataxia-telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

An allelic variant at the ATM locus is implicated in breast cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0299-0

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

21 January 2018

1 reference

12 December 2020

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations

1 reference

12 December 2020

New mutations in the ataxia telangiectasia gene

1 reference

12 December 2020

Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells

1 reference

12 December 2020

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy

1 reference

12 December 2020

Mutations associated with variant phenotypes in ataxia-telangiectasia

1 reference

12 December 2020

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

1 reference

12 December 2020

10.1007/S10048-011-0299-0

Identifiers

DOI

1 reference

30 July 2017

1 reference