Literature DB >> 18575927

Attenuated presentation of ataxia-telangiectasia with familial cancer history.

Clémence Simonin, David Devos, Isabelle Vuillaume, Bérengère de Martinville, Bernard Sablonnière, Alain Destée, Dominique Stoppa-Lyonnet, Luc Defebvre.   

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Year:  2008        PMID： 18575927     DOI： 10.1007/s00415-008-0857-z

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


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  7 in total

1.  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.

Authors:  T Stankovic; A M Kidd; A Sutcliffe; G M McGuire; P Robinson; P Weber; T Bedenham; A R Bradwell; D F Easton; G G Lennox; N Haites; P J Byrd; A M Taylor
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

2.  Dominant negative ATM mutations in breast cancer families.

Authors:  Georgia Chenevix-Trench; Amanda B Spurdle; Magtouf Gatei; Helena Kelly; Anna Marsh; Xiaoqing Chen; Karen Donn; Margaret Cummings; Dale Nyholt; Mark A Jenkins; Clare Scott; Gulietta M Pupo; Thilo Dörk; Regina Bendix; Judy Kirk; Katherine Tucker; Margaret R E McCredie; John L Hopper; Joseph Sambrook; Graham J Mann; Kum Kum Khanna
Journal:  J Natl Cancer Inst       Date:  2002-02-06       Impact factor: 13.506

Review 3.  Genetic susceptibility to radiation and chemotherapy injury: diagnosis and management.

Authors:  D Busch
Journal:  Int J Radiat Oncol Biol Phys       Date:  1994-11-15       Impact factor: 7.038

Review 4.  Ataxia-telangiectasia, an evolving phenotype.

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

Review 5.  Atypical clinical presentation of ataxia telangiectasia.

Authors:  P J Willems; B C Van Roy; W J Kleijer; M Van der Kraan; J J Martin
Journal:  Am J Med Genet       Date:  1993-03-15

6.  Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia.

Authors:  K L Ying; W E Decoteau
Journal:  Cancer Genet Cytogenet       Date:  1981-12

7.  Variant forms of ataxia telangiectasia.

Authors:  A M Taylor; E Flude; B Laher; M Stacey; E McKay; J Watt; S H Green; A E Harding
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318
  7 in total
  4 in total

1.  Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.

Authors:  Courtney Thaxton; Jennifer Goldstein; Marina DiStefano; Kathleen Wallace; P Dane Witmer; Melissa A Haendel; Ada Hamosh; Heidi L Rehm; Jonathan S Berg
Journal:  Cell Genom       Date:  2022-05-11

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.  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.  Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Authors:  Majid Zaki-Dizaji; Mohammad Tajdini; Fatemeh Kiaee; Hossein Shojaaldini; Reza Shervin Badv; Hassan Abolhassani; Asghar Aghamohammadi
Journal:  Oman Med J       Date:  2020-02-17
  4 in total

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