Literature DB >> 20480175

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

Gabriella Silvestri, Marcella Masciullo, Maria Piane, Camilla Savio, Anna Modoni, Massimo Santoro, Luciana Chessa.   

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Year:  2010        PMID： 20480175     DOI： 10.1007/s00415-010-5583-7

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Global analysis of ATM polymorphism reveals significant functional constraint.

Authors:  Y R Thorstenson; P Shen; V G Tusher; T L Wayne; R W Davis; G Chu; P J Oefner
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

Authors:  Jonine L Bernstein; Sharon Teraoka; Robert W Haile; Anne-Lise Børresen-Dale; Barry S Rosenstein; Richard A Gatti; Anh T Diep; Laila Jansen; David P Atencio; Jørgen H Olsen; Leslie Bernstein; Susan L Teitelbaum; W Douglas Thompson; Patrick Concannon
Journal:  Hum Mutat       Date:  2003-05       Impact factor: 4.878

Review 3.  Molecular pathology of ataxia telangiectasia.

Authors:  A M R Taylor; P J Byrd
Journal:  J Clin Pathol       Date:  2005-10       Impact factor: 3.411

Review 4.  Ataxia-telangiectasia, an evolving phenotype.

Authors:  Helen H Chun; Richard A Gatti
Journal:  DNA Repair (Amst)       Date:  2004 Aug-Sep

5.  Clinical spectrum of ataxia-telangiectasia in adulthood.

Authors:  M M M Verhagen; W F Abdo; M A A P Willemsen; F B L Hogervorst; D F C M Smeets; J A P Hiel; E R Brunt; M A van Rijn; D Majoor Krakauer; R A Oldenburg; A Broeks; J I Last; L J van't Veer; M A J Tijssen; A M I Dubois; H P H Kremer; C M R Weemaes; A M R Taylor; M van Deuren
Journal:  Neurology       Date:  2009-06-17       Impact factor: 9.910

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

Authors:  M Mitui; S A Nahas; L T Du; Z Yang; C H Lai; K Nakamura; S Arroyo; S Scott; A Purayidom; P Concannon; M Lavin; R A Gatti
Journal:  Hum Mutat       Date:  2009-01       Impact factor: 4.878

7.  Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.

Authors:  Neora Alterman; Aviva Fattal-Valevski; Lilach Moyal; Thomas O Crawford; Howard M Lederman; Yael Ziv; Yosef Shiloh
Journal:  Am J Med Genet A       Date:  2007-08-15       Impact factor: 2.802

8.  Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

Authors:  S G Becker-Catania; G Chen; M J Hwang; Z Wang; X Sun; O Sanal; E Bernatowska-Matuszkiewicz; L Chessa; E Y Lee; R A Gatti
Journal:  Mol Genet Metab       Date:  2000-06       Impact factor: 4.797

9.  MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Authors:  Domenico Delia; Maria Piane; Giacomo Buscemi; Camilla Savio; Silvia Palmeri; Patrizia Lulli; Luigi Carlessi; Enrico Fontanella; Luciana Chessa
Journal:  Hum Mol Genet       Date:  2004-07-21       Impact factor: 6.150
  9 in total
  4 in total

1.  Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Authors:  Hoo Young Lee; Dae-Hyun Jang; Jae-Won Kim; Dong-Woo Lee; Ja-Hyun Jang; Joungsu Joo
Journal:  BMC Med Genomics       Date:  2021-08-17       Impact factor: 3.063

2.  Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Authors:  Kathleen Claes; Julie Depuydt; A Malcolm R Taylor; James I Last; Annelot Baert; Peter Schietecatte; Veerle Vandersickel; Bruce Poppe; Kim De Leeneer; Marc D'Hooghe; Anne Vral
Journal:  Neuromolecular Med       Date:  2013-04-30       Impact factor: 3.843

3.  Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Authors:  Tannaz Moeini Shad; Reza Yazdani; Parisa Amirifar; Samaneh Delavari; Marzieh Heidarzadeh Arani; Seyed Alireza Mahdaviani; Mahnaz Sadeghi-Shabestari; Asghar Aghamohammadi; Nima Rezaei; Hassan Abolhassani
Journal:  Front Immunol       Date:  2022-01-14       Impact factor: 7.561

4.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752
  4 in total

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