Detalhe da pesquisa
1.
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Am J Hum Genet
; 92(4): 627-31, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561848
2.
Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma.
J Oral Pathol Med
; 45(3): 189-92, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306924
3.
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
J Med Genet
; 47(4): 271-5, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752158
4.
A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH.
Clin Case Rep
; 6(7): 1313-1316, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29988599
5.
Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.
Cancer Res
; 63(10): 2688-94, 2003 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750298
6.
Diagnosis of fanconi anemia: chromosomal breakage analysis.
Anemia
; 2012: 238731, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693659
7.
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
Nat Genet
; 43(2): 138-41, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21240277
8.
Rapid generation of antigen-presenting cells from leukaemic blasts in acute myeloid leukaemia.
Cancer Immunol Immunother
; 52(1): 17-27, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12536236