Detalles de la búsqueda
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Birth Defects Res A Clin Mol Teratol
; 103(12): 1003-10, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26033879
16.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Haematologica
; 99(8): 1387-94, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24763399
17.
Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.
Front Genet
; 14: 1240758, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37790699
18.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Front Genet
; 14: 1209138, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37547463
19.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Mol Genet Genomic Med
; 10(6): e1926, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35348309
20.
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Front Pediatr
; 10: 967417, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36507135