Literature DB >> 11826028

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

S Saviozzi, A Saluto, A M Taylor, J I Last, F Trebini, M C Paradiso, E Grosso, A Funaro, G Ponzio, N Migone, A Brusco.   

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Year:  2002        PMID： 11826028      PMCID： PMC1734960          DOI： 10.1136/jmg.39.1.57

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

Review 1.  Molecular pathology of ataxia telangiectasia.

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

2.  Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.

Authors:  Elise J Huisman; A Rick Brooimans; Samone Mayer; Marieke Joosten; Louis de Bont; Mariëlle Dekker; Elisabeth L M Rammeloo; Frans J Smiers; P Martin van Hagen; C Michel Zwaan; Masja de Haas; Marjon H Cnossen; Virgil A S H Dalm
Journal:  J Clin Immunol       Date:  2022-06-28       Impact factor: 8.317

3.  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

4.  The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

Authors:  A Stray-Pedersen; T Jónsson; A Heiberg; C R Lindman; E Widing; I S Aaberge; A L Borresen-Dale; T G Abrahamsen
Journal:  Clin Exp Immunol       Date:  2004-07       Impact factor: 4.330

5.  Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.

Authors:  E R Staples; E M McDermott; A Reiman; P J Byrd; S Ritchie; A M R Taylor; E G Davies
Journal:  Clin Exp Immunol       Date:  2008-05-26       Impact factor: 4.330

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.  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

Review 8.  Ataxia telangiectasia: a review.

Authors:  Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman
Journal:  Orphanet J Rare Dis       Date:  2016-11-25       Impact factor: 4.123

9.  Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.

Authors:  D Hettiarachchi; Hetalkumar Panchal; B A P S Pathirana; P D Rathnayaka; A Padeniya; P S Lai; V H W Dissanayake
Journal:  Case Rep Genet       Date:  2020-12-09

10.  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
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