Detalhe da pesquisa
1.
miR-15a/16-1 deletion in activated B cells promotes plasma cell and mature B-cell neoplasms.
Blood
; 137(14): 1905-1919, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751108
2.
[Prenatal genetic diagnosis of a case with ring chromosome 13].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1455-1460, 2023 Dec 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-37994123
3.
13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking.
Blood
; 136(8): 946-956, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384149
4.
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
Acta Neuropathol
; 143(3): 403-414, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35103816
5.
Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.
Pediatr Dermatol
; 39(3): 491-493, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35229889
6.
Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.
Scott Med J
; 67(4): 173-177, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862016
7.
Dinosaur Tail Appendix in Trisomy 13.
Fetal Pediatr Pathol
; 41(4): 698-700, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993843
8.
Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
Malays J Pathol
; 44(2): 235-244, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043586
9.
Molecular mechanism for the multiple sclerosis risk variant rs17594362.
Hum Mol Genet
; 28(21): 3600-3609, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31509193
10.
Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.
Br J Haematol
; 195(1): 108-112, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291829
11.
Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (Macaca fascicularis) by Multicolor FISH Techniques.
Cytogenet Genome Res
; 161(5): 243-248, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265761
12.
An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3.
Cytogenet Genome Res
; 161(10-11): 479-487, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915466
13.
Parent-reported histories of adults with trisomy 13 syndrome.
Am J Med Genet A
; 185(6): 1743-1756, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750000
14.
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.
Am J Med Genet A
; 185(4): 1242-1246, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438813
15.
Feingold syndrome type 2 in a patient from China.
Am J Med Genet A
; 185(7): 2262-2266, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818875
16.
Genetic variability in 13q33 and 9q34 is linked to aggressiveness patterns and a higher risk of progression of non-muscle-invasive bladder cancer at the time of diagnosis.
BJU Int
; 127(3): 375-383, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975901
17.
Retinoblastoma management in 13q deletion syndrome patients using super-selective chemotherapies and other cancer-directed interventions.
Pediatr Blood Cancer
; 68(5): e28845, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355996
18.
Myofibroblastoma of the breast showing rare palisaded morphology and uncommon desmin- and CD34-negative immunophenotype: A case report.
Pathol Int
; 71(8): 548-555, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004080
19.
Chronic lymphocytic leukemia patients with IGH translocations are characterized by a distinct genetic landscape with prognostic implications.
Int J Cancer
; 147(10): 2780-2792, 2020 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720348
20.
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27.
J Intern Med
; 288(1): 103-115, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112487