Detalhe da pesquisa
1.
Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor.
Genes Chromosomes Cancer
; 60(8): 586-590, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33896072
2.
Inhibition of nuclear export restores nuclear localization and residual tumor suppressor function of truncated SMARCB1/INI1 protein in a molecular subset of atypical teratoid/rhabdoid tumors.
Acta Neuropathol
; 142(2): 361-374, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34003336
3.
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.
Acta Neuropathol
; 139(2): 277-286, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732806
4.
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.
Am J Pathol
; 186(12): 3285-3296, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27765635
5.
Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?
Genes Chromosomes Cancer
; 55(12): 925-931, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27356182
6.
Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series.
Z Geburtshilfe Neonatol
; 221(1): 39-42, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27383044
7.
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).
Pediatr Blood Cancer
; 63(1): 168-70, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26275168
8.
Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6.
Pediatr Blood Cancer
; 68(10): e29185, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34101994
9.
Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant.
Pediatr Blood Cancer
; 63(8): 1451-3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27092963
10.
Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report.
Childs Nerv Syst
; 32(6): 1157-61, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26747622
11.
Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor.
Pediatr Blood Cancer
; 62(5): 897-900, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663425
12.
Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1.
Acta Neuropathol
; 137(5): 847-850, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945057
13.
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.
Genes Chromosomes Cancer
; 52(2): 185-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23074045
14.
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Am J Hum Genet
; 86(2): 279-84, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20137775
15.
Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.
Ann Hematol
; 92(3): 387-94, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23180434
16.
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
Blood
; 115(23): 4894-901, 2010 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20351307
17.
Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.
Acta Neuropathol
; 132(1): 149-51, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067307
18.
Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.
Genes Chromosomes Cancer
; 49(2): 176-81, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19902524
19.
Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study.
Clin Appl Thromb Hemost
; 27: 10760296211021171, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184557
20.
Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma.
Am J Surg Pathol
; 45(9): 1228-1234, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739782