List of works - Roberta Bottega

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 09 January 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

scientific article published on 5 May 2016

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

scientific article

Gray platelet syndrome: Novel mutations of the NBEAL2 gene

scientific article published on 21 November 2016

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

scientific article published on 21 December 2017

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

scientific article published on 01 March 2015

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

scientific article

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

scientific article

Mutations of RUNX1 in families with inherited thrombocytopenia.

scientific article

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

scientific article published on 28 March 2019

List of works by 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?