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1.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37865086
2.
ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.
Br J Haematol
; 2024 Apr 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38594875
3.
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Br J Haematol
; 203(5): 852-859, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37610030
4.
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.
Haematologica
; 108(5): 1385-1393, 2023 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36226497
5.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Haematologica
; 108(7): 1909-1919, 2023 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36519321
6.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Haematologica
; 107(1): 260-267, 2022 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33472357
7.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
J Cell Physiol
; 236(8): 5664-5675, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33432587
8.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-30591527
9.
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbß in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Int J Mol Sci
; 22(19)2021 Sep 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34638529
10.
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
Br J Haematol
; 183(2): 276-288, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30351444
11.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica
; 103(3): 417-426, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29269525
12.
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Ann Hematol
; 102(3): 677-679, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36539614
13.
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Blood
; 125(5): 869-72, 2015 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-25361813
14.
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Haematologica
; 107(9): 2249-2254, 2022 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35586967
15.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34788986
16.
Molecular basis of inherited thrombocytopenias: an update.
Curr Opin Hematol
; 23(5): 486-92, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27438527
17.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Blood
; 124(6): e4-e10, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24990887
18.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Haematologica
; 101(11): 1333-1342, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27365488
19.
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
Am J Hematol
; 91(7): 666-71, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27013026
20.
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Ear Hear
; 37(1): 112-20, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26226608