Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36724785
2.
Genome-scale clustered regularly interspaced short palindromic repeats screen identifies nucleotide metabolism as an actionable therapeutic vulnerability in diffuse large B-cell lymphoma.
Haematologica
; 2024 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38841800
3.
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
Cell
; 136(3): 420-34, 2009 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-19203578
4.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Ann Neurol
; 85(2): 170-180, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30549301
5.
Degradation of a Novel DNA Damage Response Protein, Tankyrase 1 Binding Protein 1, following Adenovirus Infection.
J Virol
; 92(12)2018 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29593045
6.
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
PLoS Genet
; 12(3): e1005945, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26990772
7.
Longitudinal analysis of the neurological features of ataxia-telangiectasia.
Dev Med Child Neurol
; 58(7): 690-7, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26896183
8.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23144622
9.
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Mov Disord
; 28(4): 524-8, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23143971
10.
Serotype-specific inactivation of the cellular DNA damage response during adenovirus infection.
J Virol
; 85(5): 2201-11, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21159879
11.
Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2.
J Pediatr Genet
; 10(4): 311-314, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34849277
12.
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Hum Mutat
; 30(8): 1222-30, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19431188
13.
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Br J Haematol
; 142(6): 925-33, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18573109
14.
The Wnt antagonist sFRP1 in colorectal tumorigenesis.
Cancer Res
; 64(3): 883-8, 2004 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-14871816
15.
The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
DNA Repair (Amst)
; 3(11): 1493-502, 2004 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-15380105
16.
The interaction of the hnRNP family member E1B-AP5 with p53.
FEBS Lett
; 579(13): 2752-8, 2005 May 23.
Artigo
Inglês
| MEDLINE | ID: mdl-15907477
17.
PALB2 variant status in hematological malignancies - a potential therapeutic target?
Leuk Lymphoma
; 60(7): 1823-1826, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30614742
18.
Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.
Mov Disord Clin Pract
; 1(3): 249-251, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30713859
19.
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
Proc Natl Acad Sci U S A
; 104(43): 16910-5, 2007 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-17940005
20.
Atypical presentation of ataxia-oculomotor apraxia type 1.
Dev Med Child Neurol
; 48(6): 529-32, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16700949