Results 141 to 150 of about 35,381 (234)

Eye in ataxia telangiectasia

BMJ Case Reports, 2023
Uddalak Chakraborty, Atanu Chandra, Sugata Dasgupta   +2 more
openaire   +2 more sources

Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM

, 2002
Chromosome aberrations, genomic instability, and cancer predisposition are hallmarks of a number of syndromes in which the defective genes recognize and/or repair DNA damage or are involved in some aspect of DNA processing.
Fukao, T (15560078), Kondo, N (15560084), Beresten, S (15560102), Chen, P (15559889), Lees-Miller, S (15560105), Peng, C (15559970), Beamish, H (15560093), Nuri Guven (14738161), Purdie, D (15492923), Ellis, N (15498383), Kaneko, H (15560099), Lavin, MF (15537797), Kedar, P (15560096)   +12 more
core  

Familial Ataxia-telangiectasia [PDF]

Archives of Disease in Childhood, 1961
J D, Pickup, R J, Pugh
openaire   +2 more sources

Case Reports A case of ataxia telangiectasia

, 2014
Ataxia telangiectasia (AT) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurological impairment, cerebellar ataxia ...
S Jeyabalan, Savithri Dias
core  

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis. [PDF]

Front Pediatr
Song H, Lin Y, Xian Y.
europepmc   +1 more source

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. [PDF]

J Transl Med
Jenni R, Klaa H, Chikhaoui A, Zayoud K, Cochet E, Kraoua I, Burglen L, Yacoub-Youssef H.   +7 more
europepmc   +1 more source

When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia. [PDF]

Oxf Med Case Reports
Alesaeidi S, Alavi S, Chavoshzadeh Z, Kazemi Aghdam M, Khalili M, Dastmalchi F.   +5 more
europepmc   +1 more source

Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia. [PDF]

Cell Death Dis
Vinciguerra M, El Kharef C, Bruhn C, Falbo L, Milanese C, Audano M, Beznoussenko GV, Mironov AA, Delia D, Foiani M, Mastroberardino PG, Mitro N, Costanzo V.   +12 more
europepmc   +1 more source

[Retracted] Improved ataxia telangiectasia mutated kinase inhibitor KU60019 provides a promising treatment strategy for non-invasive breast cancer. [PDF]

Oncol Lett
Zhu Y, Mao C, Wu J, Li S, Ma R, Cao H, Ji M, Jing C, Tang J.   +8 more
europepmc   +1 more source

Ataxia telangiectasia mutated (ATM) kinase as a predictive biomarker in clinical oncology: implications for a precision treatment approach. [PDF]

Neoplasia
Pham AT, Yuan F, Nagathihalli NS, Dosch AR.   +3 more
europepmc   +1 more source