Detalhe da pesquisa
1.
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Hum Genet
; 142(5): 691-696, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36076104
2.
Mucosal Atrophy Predicts Poorer Outcomes in Pediatric Ulcerative Colitis-A National Inception Cohort Study.
J Pediatr Gastroenterol Nutr
; 76(5): 603-609, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821857
3.
Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors.
Nucleic Acids Res
; 49(5): 2509-2521, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33555349
4.
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Clin Genet
; 101(1): 142-143, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532855
5.
SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors.
J Pathol
; 252(1): 77-87, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558936
6.
Immunophenotype-Genotype Correlations in Clear Cell Sarcoma of Kidney-An Evaluation of Diagnostic Ancillary Studies.
Pediatr Dev Pathol
; 23(5): 345-351, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32364435
7.
Dysregulated mitogen-activated protein kinase signalling as an oncogenic basis for clear cell sarcoma of the kidney.
J Pathol
; 244(3): 334-345, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243812
8.
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome.
J Clin Immunol
; 43(7): 1537-1539, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369913
9.
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.
Mod Pathol
; 31(1): 169-178, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28862265
10.
Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story.
J Pathol
; 238(5): 617-20, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000436
11.
The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.
Genes Chromosomes Cancer
; 55(2): 143-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542179
12.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Am J Hum Genet
; 92(1): 131-6, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273570
13.
Pediatric soft tissue tumor pathology: A happy morpho-molecular union.
Semin Diagn Pathol
; 33(6): 377-395, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27751600
14.
Unusual childhood presentations of abdominal non-Hodgkin's lymphoma.
Pediatr Int
; 58(4): 304-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26670157
15.
Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension.
Cardiol Young
; 26(4): 663-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26175015
16.
Modulation of chemotherapeutic drug resistance in neuroblastoma SK-N-AS cells by the neural apoptosis inhibitory protein and miR-520f.
Int J Cancer
; 136(7): 1579-88, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25137037
17.
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Hum Genet
; 134(8): 869-79, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26008905
18.
Columnar Lined Esophagus/Gastric Metaplasia Requires Careful Follow-up.
J Pediatr Gastroenterol Nutr
; 71(4): e136, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740521
19.
What Do We Know about the Role of miRNAs in Pediatric Sarcoma?
Int J Mol Sci
; 16(7): 16593-621, 2015 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204834
20.
Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin.
Genes Chromosomes Cancer
; 53(5): 381-91, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488803