ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA

SAVOIA, ANNA  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Settore MED/03 - Genetica Medica  

UnityFVG

7007026639

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Risultati 1 - 20 di 168 (tempo di esecuzione: 0.054 secondi).
Titolo Data di pubblicazione Autori File
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 1-gen-1999 SAVOIA, ANNA +
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 1-gen-1998 SAVOIA, ANNA +
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. 1-gen-2010 DE ROCCO, DANIELABIANCO, ANNA MONICA ROSARIASAVOIA, ANNA +
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 1-gen-2000 GASPARINI, PAOLOSAVOIA, ANNA +
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 1-gen-2018 DE ROCCO, DANIELAGIANGREGORIO, TANIASAVOIA, ANNA +
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 1-gen-2015 SAVOIA, ANNAGNAN, CHIARAFALESCHINI, MICHELA +
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 1-gen-2007 SAVOIA, ANNA +
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 +
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 1-gen-2015 MESSINEO, STEFANIASAVOIA, ANNA +
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 1-gen-2009 SAVOIA, ANNADE ROCCO, DANIELA +
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 +
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 1-gen-2012 SAVOIA, ANNA +
Amplification of DNA from epithelial cells in urine 1-gen-1989 GASPARINI, PAOLOSAVOIA, ANNA +
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 1-gen-1999 SAVOIA, ANNA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 1-gen-2002 SAVOIA, ANNA
ANKRD26-related thrombocytopenia and myeloid malignancies 1-gen-2013 GNAN, CHIARADE ROCCO, DANIELASAVOIA, ANNA +