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BOTTEGA, ROBERTA

BOTTEGA, ROBERTA  

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Titolo Data di pubblicazione Autori File
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 1-gen-2023 Ammeti, DanieleZanchetta, Melania EvaBottega, RobertaCapaci, ValeriaSavoia, AnnaFaleschini, Michela +
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 1-gen-2023 Persico, IlariaFontana, GiorgiaFaleschini, MichelaZanchetta, Melania EvaAmmeti, DanieleSavoia, AnnaBottega, Roberta +
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 1-gen-2014 FALESCHINI, MICHELABOTTEGA, ROBERTABAJ, GabrieleSAVOIA, ANNA +
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, MichelaGiangregorio, TaniaBottega, RobertaSavoia, Anna +
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 1-gen-2011 SAVOIA, ANNADE ROCCO, DANIELADI STAZIO, MARIATERESABOTTEGA, ROBERTA +
Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation) 1-gen-2011 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 1-gen-2015 NICCHIA, ELENAGRECO, CHIARABOTTEGA, ROBERTAFALESCHINI, MICHELABONIN, SerenaSAVOIA, ANNA +
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 1-gen-2013 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 1-gen-2013 BOTTEGA, ROBERTASAVOIA, ANNA +
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 1-gen-2022 Faleschini, MichelaPapa, NicoleGiangregorio, TaniaSavoia, AnnaBottega, Roberta +
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 1-gen-2022 Faleschini, MichelaAmmeti, DanielePapa, NicoleBottega, RobertaFontana, GiorgiaCapaci, ValeriaZanchetta, Melania ESavoia, Anna +
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 1-gen-2016 BOTTEGA, ROBERTAFALESCHINI, MICHELASAVOIA, ANNA +
FANCA nel mitocondrio: qualche ruolo diretto? 1-gen-2015 BOTTEGA, ROBERTADE ROCCO, DANIELABORTUL, RobertaFALESCHINI, MICHELANICCHIA, ELENAZWEYER, MARINASAVOIA, ANNA +
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 1-gen-2013 COMAR, ManolaDE ROCCO, DANIELABOTTEGA, ROBERTASAVOIA, ANNA +
Fanconi anemia patients are more susceptible to SV40 infection 1-gen-2013 COMAR, ManolaSAVOIA, ANNADE ROCCO, DANIELABOTTEGA, ROBERTA +
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 1-gen-2019 Bottega R.Perrone M. D.Vecchiato K.Taddio A.Pecile V.Said H. M. +