about
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiencyMYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlationsMYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Fanconi anemia patients are more susceptible to infection with tumor virus SV40Spectrum of the mutations in Bernard-Soulier syndrome.Unusual splice site mutations disrupt FANCA exon 8 definition.Impaired immune response to Candida albicans in cells from Fanconi anemia patients.MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.Mutations of RUNX1 in families with inherited thrombocytopenia.Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.ANKRD26-related thrombocytopenia and myeloid malignanciesApparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the ruleMYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotypeSomatic, 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 AMYH9-related disease: Report on five German families and description of a novel mutationAbsence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Daniela De Rocco
@ast
Daniela De Rocco
@en
Daniela De Rocco
@es
Daniela De Rocco
@fr
Daniela De Rocco
@nl
Daniela De Rocco
@sl
type
label
Daniela De Rocco
@ast
Daniela De Rocco
@en
Daniela De Rocco
@es
Daniela De Rocco
@fr
Daniela De Rocco
@nl
Daniela De Rocco
@sl
prefLabel
Daniela De Rocco
@ast
Daniela De Rocco
@en
Daniela De Rocco
@es
Daniela De Rocco
@fr
Daniela De Rocco
@nl
Daniela De Rocco
@sl
P1053
K-6753-2016
P106
P1153
26030341900
P21
P31
P3829
P496
0000-0002-4536-9798