scholarly journals Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma

2003 ◽  
Vol 2 (1) ◽  
pp. 88-92 ◽  
Author(s):  
Peilin Zhang ◽  
Kunjan S. Bhakta ◽  
Pier Lorenzo Puri ◽  
Robert Newbury ◽  
James Feramisco ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ataxia Telangiectasia ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene

Patient with ataxia telangiectasia undergoing elective staging laparoscopy: a case report and literature review

2021 ◽  
Vol 71 (11) ◽  
pp. 2656-2658
Author(s):  
Muhammad Adeel Bashir ◽  
Huma Saleem
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Perioperative Management ◽  
Rare Condition ◽  
Staging Laparoscopy ◽  
Recurrent Infections ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene ◽  
Autosomal Recessive Condition ◽  
Insight Into

Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition. Neurological symptoms such as cerebellar ataxia, abnormal eye movements and malignancies occur commonly. Immunodeficiency predisposes these patients to recurrent infections. Perioperative management of patients with this rare condition can be associated with increased morbidity. Therefore, it is recommended that patients with ataxia telangiectasia should be managed in a multidisciplinary center, under the supervision of senior clinicians who have the insight into the clinical needs of such patients. We report herein, the perioperative management of a patient with Ataxia telangiectasia undergoing laparoscopic procedure. Continuous....

scholarly journals Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers

2021 ◽  
pp. canprevres.0448.2020
Author(s):  
Michael J Hall ◽  
Ryan Bernhisel ◽  
Elisha Hughes ◽  
Katie Larson ◽  
Eric T. Rosenthal ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Ataxia Telangiectasia Mutated ◽  
Multiple Cancers ◽  
Pathogenic Variants ◽  
Atm Gene

Ataxia Telangiectasia Mutated (ATM) Gene Variants in American Indians

2010 ◽  
Vol 78 (3) ◽  
pp. S90 ◽  
Author(s):  
D.G. Petereit ◽  
A. Moser ◽  
J. Hahn ◽  
A. Boylan ◽  
S. Kanekar ◽  
...  
Keyword(s):  
American Indians ◽  
Ataxia Telangiectasia ◽  
Gene Variants ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene

Correlation of Ataxia-Telangiectasia-Mutated (ATM) gene loss with outcome in head and neck squamous cell carcinoma

Oral Oncology ◽  
2012 ◽  
Vol 48 (8) ◽  
pp. 698-702 ◽  
Author(s):  
Annette M. Lim ◽  
Richard J. Young ◽  
Marnie Collins ◽  
Stephen B. Fox ◽  
Grant A. McArthur ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Ataxia Telangiectasia ◽  
Gene Loss ◽  
Neck Squamous Cell Carcinoma ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene
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