Detalhe da pesquisa
1.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Hum Mol Genet
; 33(7): 612-623, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176734
2.
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Hepatology
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934624
3.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood
; 139(16): 2427-2440, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007328
4.
A predictive classifier of poor prognosis in transplanted patients with juvenile myelomonocytic leukemia: a study on behalf of the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire.
Haematologica
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385260
5.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Hum Mol Genet
; 29(6): 907-922, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985013
6.
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia.
Br J Haematol
; 199(5): 739-743, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111525
7.
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.
Respirology
; 27(3): 226-235, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981600
8.
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration
; 101(6): 531-543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078193
9.
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Blood
; 131(7): 717-732, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146883
10.
Success of donor-derived CAR-T cells after failure of autologous CD19 CAR-T cells (tisagenlecleucel) in B-cell acute lymphoblastic leukaemia.
Br J Haematol
; 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735758
11.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
12.
Standardization of Flow Cytometric Immunophenotyping for Hematological Malignancies: The FranceFlow Group Experience.
Cytometry A
; 95(9): 1008-1018, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31364809
13.
A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity.
Pediatr Blood Cancer
; 71(3): e30842, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189777
14.
Cannibalism in an ETV6::RUNX1 paediatric B acute lymphoblastic leukaemia.
Br J Haematol
; 202(2): 211, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157849
15.
Kiss of death between CAR-T cells and KMT2a::AFF1 B lymphoblasts in the central nervous system.
Am J Hematol
; 98(11): 1816-1817, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340822
16.
Relevance of Howell-Jolly body counts for measuring spleen function in sickle cell disease.
Am J Hematol
; 98(5): E110-E112, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794434
17.
Leukaemic transformation in a 10-year-old girl with SRP54 congenital neutropenia.
Br J Haematol
; 198(6): 1069-1072, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35732340
18.
Therapeutic potential of ruxolitinib and ponatinib in patients with EPOR-rearranged Philadelphia chromosome-like acute lymphoblastic leukemia.
Haematologica
; 106(10): 2763-2767, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196168
19.
First heterozygous NOP10 mutation in familial pulmonary fibrosis.
Eur Respir J
; 55(6)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32139460
20.
Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice.
Blood
; 119(24): 5722-30, 2012 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438253