Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
Combined oral 5-azacytidine and romidepsin are highly effective in patients with PTCL: a multicenter phase 2 study.
Blood
; 137(16): 2161-2170, 2021 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171487
3.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
4.
Phenogenomic heterogeneity of post-transplant plasmablastic lymphomas.
Haematologica
; 107(1): 201-210, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33297669
5.
Surgical treatment of a chronic thoracoabdominal dissection with false lumen thrombosis and true lumen compression determining multivisceral ischemia.
Perfusion
; : 2676591221137030, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327425
6.
How we treat advanced stage cutaneous T-cell lymphoma - mycosis fungoides and Sézary syndrome.
Br J Haematol
; 195(3): 352-364, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987825
7.
Oral 5-azacytidine and romidepsin exhibit marked activity in patients with PTCL: a multicenter phase 1 study.
Blood
; 134(17): 1395-1405, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471376
8.
A Rare Case of Dysplastic Axillary Artery Aneurysm Associated with Arteriovenous Malformation.
Ann Vasc Surg
; 71: 536.e9-536.e14, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157250
9.
Spontaneous Acute Aortic Thrombosis in SARS-CoV-2 Infection.
Ann Vasc Surg
; 75: 136-139, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33940161
10.
Generation of pralatrexate resistant T-cell lymphoma lines reveals two patterns of acquired drug resistance that is overcome with epigenetic modifiers.
Genes Chromosomes Cancer
; 59(11): 639-651, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32614991
11.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203228
12.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949313
13.
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Haematologica
; 107(9): 2249-2254, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586967
14.
Recursive partitioning analysis of prognostic factors in post-transplant lymphoproliferative disorders (PTLD): a 120 case single institution series.
Br J Haematol
; 171(4): 491-500, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26250758
15.
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Am J Med Genet A
; 167A(11): 2786-94, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227443
16.
Hodgkin lymphoma: targeting the tumor microenvironment as a therapeutic strategy.
Clin Adv Hematol Oncol
; 13(8): 518-24, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26351815
17.
Fabry disease: a rare disorder calling for personalized medicine.
Int Urol Nephrol
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613662
18.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Eur J Hum Genet
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702428
19.
Hybrid treatment of large extracranial carotid artery aneurysm.
J Vasc Surg Cases Innov Tech
; 9(2): 101117, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235172
20.
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes (Basel)
; 14(6)2023 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372410