Literature DB >> 13542097

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

E BODER, R P SEDGWICK.   

Abstract

Entities:  

Keywords:  ATAXIA; CEREBELLUM/diseases; EYE DISEASES/in infant and child; LUNG DISEASES/in infant and child; TELANGIECTASIS/in infant and child

Mesh：

Year:  1958        PMID： 13542097

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  105 in total

Review 1.  The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

Authors:  R A Gatti; S Becker-Catania; H H Chun; X Sun; M Mitui; C H Lai; N Khanlou; M Babaei; R Cheng; C Clark; Y Huo; N C Udar; R K Iyer
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 8.667

2.  Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Authors:  Virginie Jacquemin; Guillaume Rieunier; Sandrine Jacob; Dorine Bellanger; Catherine Dubois d'Enghien; Anthony Laugé; Dominique Stoppa-Lyonnet; Marc-Henri Stern
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

3.  ATAXIA TELANGIECTASIA.

Authors:  H L UTIAN; M PLIT
Journal:  J Neurol Neurosurg Psychiatry       Date:  1964-02       Impact factor: 10.154

4.  Evaluation and management of pulmonary disease in ataxia-telangiectasia.

Authors:  Sharon A McGrath-Morrow; W Adam Gower; Cynthia Rothblum-Oviatt; Alan S Brody; Claire Langston; Leland L Fan; Maureen A Lefton-Greif; Thomas O Crawford; Michelle Troche; John T Sandlund; Paul G Auwaerter; Blaine Easley; Gerald M Loughlin; John L Carroll; Howard M Lederman
Journal:  Pediatr Pulmonol       Date:  2010-09

5.  Functional complementation of ataxia-telangiectasia group D (AT-D) cells by microcell-mediated chromosome transfer and mapping of the AT-D locus to the region 11q22-23.

Authors:  C Lambert; R A Schultz; M Smith; C Wagner-McPherson; L D McDaniel; T Donlon; E J Stanbridge; E C Friedberg
Journal:  Proc Natl Acad Sci U S A       Date:  1991-07-01       Impact factor: 11.205

Review 6.  Radiological imaging in ataxia telangiectasia: a review.

Authors:  Ishani Sahama; Kate Sinclair; Kerstin Pannek; Martin Lavin; Stephen Rose
Journal:  Cerebellum       Date:  2014-08       Impact factor: 3.847

7.  A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.

Authors:  Andrew Campbell; Brittany Krupp; Jared Bushman; Mark Noble; Christoph Pröschel; Margot Mayer-Pröschel
Journal:  Hum Mol Genet       Date:  2015-08-26       Impact factor: 6.150

Review 8.  Warts and all: human papillomavirus in primary immunodeficiencies.

Authors:  Jennifer W Leiding; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2012-10-01       Impact factor: 10.793

9.  Molecular defects in Moroccan patients with ataxia-telangiectasia.

Authors:  L Jeddane; F Ailal; C Dubois-d'Enghien; O Abidi; I Benhsaien; A Kili; S Chaouki; Y Kriouile; N El Hafidi; H Fadil; R Abilkassem; N Rada; A A Bousfiha; A Barakat; D Stoppa-Lyonnet; H Bellaoui
Journal:  Neuromolecular Med       Date:  2013-01-16       Impact factor: 3.843

10.  Cranial MRI in ataxia-telangiectasia.

Authors:  F Sardanelli; R C Parodi; C Ottonello; P Renzetti; S Saitta; E Lignana; G L Mancardi
Journal:  Neuroradiology       Date:  1995-01       Impact factor: 2.804
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