Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders-Reference-Cited by-同舟云学术

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

Published:2016-12 Issue: Volume:371 Page:48-53
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Piane Maria^ORCID,Molinaro Anna,Soresina Annarosa,Costa Silvia,Maffeis Marianna,Germani Aldo,Pinelli Lorenzo,Meschini Roberta,Plebani Alessandro,Chessa Luciana,Micheli Roberto

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference18 articles.

1. Ataxia telangiectasia: an overview;Boder,1985

2. Ataxia-telangiectasia: it's association with a defective thymus, immunological-deficiency disease, and malignancy;Peterson;Lancet,1964

3. Mortality and cancer incidence in 263 patients with ataxia telangiectasia;Morrell;J. Natl. Cancer Inst.,1986

4. ATM mutations in cancer: therapeutic implications;Choi;Mol. Cancer Ther.,2016

5. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies;Suarez;J. Clin. Oncol.,2015

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The natural history of ataxia-telangiectasia (A-T): A systematic review;PLOS ONE;2022-03-15

2. CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline;F1000Research;2021-02-10

3. CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline;F1000Research;2020-10-08

4. Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review;Frontiers in Genetics;2020-05-19

5. Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton;Oncology Letters;2019-09-19