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Francesca Torricelli
Francesca Torricelli
Head of SOD Diagnostica Genetica, AOU Careggi, Firenze
Bestätigte E-Mail-Adresse bei aou-careggi.toscana.it
Titel
Zitiert von
Zitiert von
Jahr
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
I Olivotto, F Girolami, MJ Ackerman, S Nistri, JM Bos, E Zachara, ...
Mayo Clinic Proceedings 83 (6), 630-638, 2008
4362008
Cytogenetic effects on human lymphocytes of a mixture of fifteen pesticides commonly used in Italy
P Dolara, F Torricelli, N Antonelli
Mutation Research Letters 325 (1), 47-51, 1994
3691994
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
F Girolami, CY Ho, C Semsarian, M Baldi, ML Will, K Baldini, F Torricelli, ...
Journal of the American College of Cardiology 55 (14), 1444-1453, 2010
3432010
Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathy
I Olivotto, F Cecchi, R Gistri, R Lorenzoni, G Chiriatti, F Girolami, ...
Journal of the American College of Cardiology 47 (5), 1043-1048, 2006
2532006
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications
RAMS Casano, DF Johnson, Y Bykhovskaya, F Torricelli, M Bigozzi, ...
American journal of otolaryngology 20 (3), 151-156, 1999
2011999
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript
M Benelli, C Pescucci, G Marseglia, M Severgnini, F Torricelli, A Magi
Bioinformatics 28 (24), 3232-3239, 2012
1912012
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations
I Olivotto, F Girolami, R Sciagrà, MJ Ackerman, B Sotgia, JM Bos, S Nistri, ...
Journal of the American College of Cardiology 58 (8), 839-848, 2011
1852011
Th2‐oriented profile of male offspring T cells present in women with systemic sclerosis and reactive with maternal major histocompatibility complex antigens
C Scaletti, A Vultaggio, S Bonifacio, L Emmi, F Torricelli, E Maggi, ...
Arthritis & Rheumatism 46 (2), 445-450, 2002
1652002
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations
R Coppini, CY Ho, E Ashley, S Day, C Ferrantini, F Girolami, B Tomberli, ...
Journal of the American College of Cardiology 64 (24), 2589-2600, 2014
1552014
Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model
P Sbano, A Cuccia, B Mazzanti, S Urbani, B Giusti, I Lapini, L Rossi, ...
Archives of Dermatological Research 300, 115-124, 2008
1372008
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype
M Margaglione, G Castaman, M Morfini, A Rocino, E Santagostino, ...
haematologica 93 (5), 722-728, 2008
1352008
Bioinformatics for next generation sequencing data
A Magi, M Benelli, A Gozzini, F Girolami, F Torricelli, ML Brandi
Genes 1 (2), 294-307, 2010
1252010
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B
S Bione, F Rizzolio, C Sala, R Ricotti, M Goegan, MC Manzini, R Battaglia, ...
Human reproduction 19 (12), 2759-2766, 2004
1232004
Hearing loss due to the mitochondrial A1555G mutation in Italian families
RAMS Casano, Y Bykhovskaya, DF Johnson, M Hamon, F Torricelli, ...
American journal of medical genetics 79 (5), 388-391, 1998
1131998
Read count approach for DNA copy number variants detection
A Magi, L Tattini, T Pippucci, F Torricelli, M Benelli
Bioinformatics 28 (4), 470-478, 2012
1092012
Identification of hematopoietic progenitor cells in human amniotic fluid before the 12th week of gestation.
F Torricelli, L Brizzi, PA Bernabei, G Gheri, S Di Lollo, L Nutini, E Lisi, ...
Italian journal of anatomy and embryology= Archivio italiano di anatomia ed …, 1993
1051993
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes …
C Férec, T Casals, N Chuzhanova, M Macek, T Bienvenu, A Holubova, ...
European journal of human genetics 14 (5), 567-576, 2006
1032006
De novo balanced chromosome rearrangements in prenatal diagnosis
D Giardino, C Corti, L Ballarati, D Colombo, E Sala, N Villa, G Piombo, ...
Prenatal diagnosis 29 (3), 257-265, 2009
982009
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study
F Girolami, M Iascone, B Tomberli, S Bardi, M Benelli, G Marseglia, ...
Circulation: Cardiovascular Genetics 7 (6), 741-750, 2014
952014
Spectrum of UGT1A1 mutations in Crigler‐Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype‐phenotype correlation
V Servedio, M d'Apolito, N Maiorano, B Minuti, F Torricelli, F Ronchi, ...
Human mutation 25 (3), 325-325, 2005
922005
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