Detalhe da pesquisa
1.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782093
2.
Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.
Clin Chem
; 68(2): 322-331, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34928333
3.
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
Hum Mutat
; 41(3): 608-618, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729086
4.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
J Allergy Clin Immunol
; 143(1): 325-334.e2, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29906526
5.
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Hum Mutat
; 40(10): 1690-1699, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033087
6.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
7.
Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
Pediatr Blood Cancer
; 65(6): e27005, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469200
8.
Germline BAP1 mutations predispose to renal cell carcinomas.
Am J Hum Genet
; 92(6): 974-80, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684012
9.
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
Tunis Med
; 93(8-9): 511-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815515
10.
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.
J Natl Cancer Inst
; 116(4): 580-587, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060262
11.
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.
Blood
; 117(15): e161-70, 2011 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21325596
12.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
J Allergy Clin Immunol
; 128(2): 382-9.e1, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665257
13.
Fertility defects revealing germline biallelic nonsense NBN mutations.
Hum Mutat
; 30(3): 424-30, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19105185
14.
Three new BLM gene mutations associated with Bloom syndrome.
Genet Test
; 12(2): 257-61, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18471088
15.
Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.
Kidney Int Rep
; 6(8): 2207-2211, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386670
16.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
J Clin Invest
; 126(9): 3580-4, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500492
17.
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.
J Clin Oncol
; 33(2): 202-8, 2015 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488969
18.
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
Neurology
; 83(12): 1087-95, 2014 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122203
19.
Spontaneous abrogation of the G2DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.
J Clin Invest
; 121(1): 184-94, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21183791