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1.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Int J Mol Sci
; 25(4)2024 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38396760
2.
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Int J Mol Sci
; 23(23)2022 Nov 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36498862
3.
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Am J Hematol
; 96(9): 1077-1086, 2021 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34000087
4.
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Br J Haematol
; 187(4): 502-508, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31309545
5.
AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.
Hum Mol Genet
; 24(18): 5093-108, 2015 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26085575
6.
TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
Am J Hematol
; 97(9): E328-E331, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35686370
7.
Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
Blood Cells Mol Dis
; 55(1): 40-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25976466
8.
Clinical features and therapeutic challenges of cytopenias belonging to alps and alps-related (ARS) phenotype.
Br J Haematol
; 184(5): 861-864, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29527658
9.
Etiology, clinical outcome, and laboratory features in children with neutropenia: analysis of 104 cases.
Pediatr Allergy Immunol
; 25(3): 283-9, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24325465
10.
Poikiloderma with neutropenia: a case report and review of the literature.
J Pediatr Hematol Oncol
; 36(4): 297-300, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23823120
11.
Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus.
Front Immunol
; 15: 1415389, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38873600
12.
Long-term use of pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data.
Blood
; 128(17): 2178-2181, 2016 10 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-27621310
13.
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Hemasphere
; 7(3): e845, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36844186
14.
Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
Am J Hematol
; 87(2): 238-43, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22213173
15.
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Front Immunol
; 13: 869033, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35655776
16.
Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10.
Front Genet
; 13: 1058468, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36482893
17.
Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia.
Haematologica
; 96(7): 1049-54, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21459794
18.
Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
Pediatr Blood Cancer
; 57(1): 10-7, 2011 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21448998
19.
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Genes (Basel)
; 12(9)2021 08 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34573280
20.
Ser245Tyr TINF2 mutation in a long-term survivor after a second myeloablative SCT following late graft failure for Aplastic Anaemia.
Blood Cells Mol Dis
; 55(2): 187-8, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25616367