Lista de obras - Daniela De Rocco - Dominio Público Uruguay

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

artículo científico publicado en 2010

ANKRD26-related thrombocytopenia and myeloid malignancies

artículo científico publicado en 2013

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

article

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

artículo científico publicado en 2014

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

artículo científico publicado en 2010

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

artículo científico publicado en 2011

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

artículo científico publicado en 2015

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

artículo científico publicado en 2012

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

artículo científico publicado en 2013

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

artículo científico publicado en 2015

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

artículo científico publicado en 2010

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

artículo científico publicado en 2009

Impaired immune response to Candida albicans in cells from Fanconi anemia patients.

artículo científico publicado en 2015

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

artículo científico publicado en 2009

MYH9-related disease: Report on five German families and description of a novel mutation

article

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

artículo científico publicado en 2013

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

artículo científico publicado en 2012

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

artículo científico publicado en 2009

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

artículo científico publicado en 2014

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations of RUNX1 in families with inherited thrombocytopenia.

artículo científico publicado en 2017

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

artículo científico publicado en 2013

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

artículo científico publicado en 2014

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 A

article

Spectrum of the mutations in Bernard-Soulier syndrome

artículo científico publicado en 2014

Unusual splice site mutations disrupt FANCA exon 8 definition

artículo científico publicado en 2014

Lista de obras de Daniela De Rocco

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

ANKRD26-related thrombocytopenia and myeloid malignancies

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

Fanconi anemia patients are more susceptible to infection with tumor virus SV40

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

Impaired immune response to Candida albicans in cells from Fanconi anemia patients.

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

MYH9-related disease: Report on five German families and description of a novel mutation

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Mutations of RUNX1 in families with inherited thrombocytopenia.

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

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 A

Spectrum of the mutations in Bernard-Soulier syndrome

Unusual splice site mutations disrupt FANCA exon 8 definition