Lista de obras - Roberta Bottega - Dominio Público Uruguay

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

artículo científico publicado en 2019

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

scientific article published on 14 March 2017

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Gray platelet syndrome: Novel mutations of the NBEAL2 gene

artículo científico publicado en 2016

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

artículo científico publicado en 2017

Inhibition of Metalloproteinase Activity in FANCA Is Linked to Altered Oxygen Metabolism

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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 of RUNX1 in families with inherited thrombocytopenia.

artículo científico publicado en 2017

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

artículo científico publicado en 2019

Lista de obras de Roberta Bottega

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

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

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

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

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

Gray platelet syndrome: Novel mutations of the NBEAL2 gene

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

Inhibition of Metalloproteinase Activity in FANCA Is Linked to Altered Oxygen Metabolism

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

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

Mutations of RUNX1 in families with inherited thrombocytopenia.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?