New mutations in the ATM gene and clinical data of 25 AT patients (Q34037422)

30 July 2017

title

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

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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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4

Heidemarie Neitzel

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5

Detlev Schindler

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2

Véronique Dutrannoy

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25

Martin Digweed

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Raymonda Varon-Mateeva

29

Raymonda Varon

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Wilson Marques

3

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Petja S Dimova

6

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Veneta Bojinova

8

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Arpad von Moers

11

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Ilka Schulze

12

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Marion Nicke

13

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Elcin Bora

14

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Tufan Cankaya

15

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Éva Oláh

16

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Csongor Kiss

17

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Beáta Bessenyei

18

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Katalin Szakszon

19

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Ursula Gruber-Sedlmayr

20

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Peter Michael Kroisel

21

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Sigrun Sodia

22

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Timm O Goecke

23

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Karl Sperling

26

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Joaquim de Sá

27

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Charles Marques Lourenco

28

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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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volume

12

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issue

4

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page(s)

273-282

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The genetic defect in ataxia-telangiectasia

30 July 2017

cites work

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

21 January 2018

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DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

21 January 2018

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Multiple autophosphorylation sites are dispensable for murine ATM activation in vivo

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

21 January 2018

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Ataxia-telangiectasia: founder effect among north African Jews

21 January 2018

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

21 January 2018

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Genotype-phenotype relationships in ataxia-telangiectasia and variants.

21 January 2018

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Clinical spectrum of ataxia-telangiectasia in adulthood

21 January 2018

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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

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

21 January 2018

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Predominance of null mutations in ataxia-telangiectasia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

21 January 2018

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

21 January 2018

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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

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30 July 2017

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