Detalhe da pesquisa
1.
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Hum Genet
; 143(6): 747-759, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753158
2.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2115-2125, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770806
3.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
4.
Circulating cell-free DNA for target quantification in hematologic malignancies: Validation of a protocol to overcome pre-analytical biases.
Hematol Oncol
; 41(1): 50-60, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251440
5.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Am J Med Genet A
; 188(7): 2129-2134, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266289
6.
HDAC6 inhibition decreases leukemic stem cell expansion driven by Hedgehog hyperactivation by restoring primary ciliogenesis.
Pharmacol Res
; 183: 106378, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918044
7.
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
Int J Mol Sci
; 23(9)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563565
8.
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.
Hum Mol Genet
; 28(1): 64-73, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239720
9.
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Int J Mol Sci
; 22(7)2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807238
10.
Dysregulation of NIPBL leads to impaired RUNX1 expression and haematopoietic defects.
J Cell Mol Med
; 24(11): 6272-6282, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323916
11.
Relapses and treatment-related events contributed equally to poor prognosis in children with ABL-class fusion positive B-cell acute lymphoblastic leukemia treated according to AIEOP-BFM protocols.
Haematologica
; 105(7): 1887-1894, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31601692
12.
Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia.
Ann Hematol
; 99(4): 809-818, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32078009
13.
NIPBL: a new player in myeloid cell differentiation.
Haematologica
; 104(7): 1332-1341, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630974
14.
Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
Br J Haematol
; 182(1): 114-124, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767474
15.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2126, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921915
16.
Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants.
Blood
; 137(14): 1980-1984, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512459
17.
Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.
Int J Mol Sci
; 19(2)2018 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389897
18.
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
Am J Med Genet A
; 173(2): 546-549, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27868373
19.
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
J Cell Physiol
; 231(3): 613-22, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206533
20.
More than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.
Br J Haematol
; 191(2): 291-294, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460031