» Articles » PMID: 11826028

A Late Onset Variant of Ataxia-telangiectasia with a Compound Heterozygous Genotype, A8030G/7481insA

Overview
Journal J Med Genet
Specialty Genetics
Date 2002 Feb 5
PMID 11826028
Citations 15
Authors
Affiliations
Soon will be listed here.
Citing Articles

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.

Biglari S, Moghaddam A, Tabatabaiefar M, Sherkat R, Youssefian L, Saeidian A Genet Med. 2023; 26(2):101028.

PMID: 37978863 PMC: 10922824. DOI: 10.1016/j.gim.2023.101028.


Successful Treatment of Large B-Cell Lymphoma in a Child with Compound Heterozygous Mutation in the Gene.

Czarny J, Andrzejewska M, Zajac-Spychala O, Latos-Grazynska E, Pastorczak A, Wypyszczak K Int J Mol Sci. 2023; 24(2).

PMID: 36674612 PMC: 9866559. DOI: 10.3390/ijms24021099.


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

Huisman E, Brooimans A, Mayer S, Joosten M, de Bont L, Dekker M J Clin Immunol. 2022; 42(7):1521-1534.

PMID: 35763218 PMC: 9674766. DOI: 10.1007/s10875-022-01303-8.


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

Petley E, Yule A, Alexander S, Ojha S, Whitehouse W PLoS One. 2022; 17(3):e0264177.

PMID: 35290391 PMC: 9049793. DOI: 10.1371/journal.pone.0264177.


Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Rawat A, Tyagi R, Chaudhary H, Pandiarajan V, Jindal A, Suri D Sci Rep. 2022; 12(1):4036.

PMID: 35260754 PMC: 8904522. DOI: 10.1038/s41598-022-08019-0.