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TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
Published in:
Neurological Sciences, 2015, v. 36, n. 2, p. 323, doi. 10.1007/s10072-014-1944-9
By:
- DiFrancesco, Jacopo;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Forlino, Antonella;
- Gioia, Roberta;
- Cossu, Federica;
- Bolognesi, Martino;
- Andreoni, Simona;
- Saracchi, Enrico;
- Frigeni, Barbara;
- Stellato, Tiziana;
- Tolnay, Markus;
- Winkler, David;
- Remida, Paolo;
- Isimbaldi, Giuseppe;
- Ferrarese, Carlo
Publication type:
Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Published in:
Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
By:
- Cova, Giulia;
- Glaser, Juliane;
- Schöpflin, Robert;
- Prada-Medina, Cesar Augusto;
- Ali, Salaheddine;
- Franke, Martin;
- Falcone, Rita;
- Federer, Miriam;
- Ponzi, Emanuela;
- Ficarella, Romina;
- Novara, Francesca;
- Wittler, Lars;
- Timmermann, Bernd;
- Gentile, Mattia;
- Zuffardi, Orsetta;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Published in:
2017
By:
- Rinaldi, Berardo;
- Vaisfeld, Alessandro;
- Amarri, Sergio;
- Baldo, Chiara;
- Gobbi, Giuseppe;
- Magini, Pamela;
- Melli, Erto;
- Neri, Giovanni;
- Novara, Francesca;
- Pippucci, Tommaso;
- Rizzi, Romana;
- Soresina, Annarosa;
- Zampini, Laura;
- Zuffardi, Orsetta;
- Crimi, Marco
Publication type:
journal article
Impact of Different Measures of Body Size on the Radiation Dose During Coronary Angiography and Percutaneous Coronary Intervention: Results from a Large Single Center Cohort.
Published in:
Angiology, 2022, v. 73, n. 5, p. 478, doi. 10.1177/00033197211053133
By:
- Verdoia, Monica;
- Pipan, Pierpaolo;
- Viola, Orazio;
- Francesca Brancati, Marta;
- La Cognata, Sara;
- Novara, Francesca;
- Bristot, Filippo;
- D'Amico, Giuseppina;
- Ravetto, Cinzia;
- Fusco, Massimo;
- Giachino, Paolo;
- Tonella, Manuela;
- Maccagni, Davide;
- Soldà, Pier Luigi;
- Marcolongo, Marco
Publication type:
Article
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 4, p. 647, doi. 10.1111/j.1528-1167.2009.02308.x
By:
- Mei, Davide;
- Marini, Carla;
- Novara, Francesca;
- Bernardina, Bernardo D.;
- Granata, Tiziana;
- Fontana, Elena;
- Parrini, Elena;
- Ferrari, Anna R.;
- Murgia, Alessandra;
- Zuffardi, Orsetta;
- Guerrini, Renzo
Publication type:
Article
Developmental trends of communicative skills in children with chromosome 14 aberrations.
Published in:
2017
By:
- Zampini, Laura;
- Zanchi, Paola;
- Rinaldi, Berardo;
- Novara, Francesca;
- Zuffardi, Orsetta
Publication type:
journal article
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 823, doi. 10.1002/ajmg.a.61486
By:
- Peron, Angela;
- Novara, Francesca;
- La Briola, Francesca;
- Merati, Elisabetta;
- Giannusa, Emanuela;
- Segalini, Elena;
- Anniballi, Gloria;
- Vignoli, Aglaia;
- Ciccone, Roberto;
- Canevini, Maria Paola
Publication type:
Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
By:
- Capra, Valeria;
- Biancheri, Roberta;
- Morana, Giovanni;
- Striano, Pasquale;
- Novara, Francesca;
- Ferrero, Giovanni Battista;
- Boeri, Luca;
- Celle, Maria ElENa;
- Mancardi, Maria Margherita;
- Zuffardi, Orsetta;
- Parrini, ElENa;
- Guerrini, RENzo
Publication type:
Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
By:
- Novara, Francesca;
- Stanzial, Franco;
- Rossi, Elena;
- Benedicenti, Francesco;
- Inzana, Francesca;
- Di Gregorio, Eleonora;
- Brusco, Alfredo;
- Graakjaer, Jesper;
- Fagerberg, Christina;
- Belligni, Elga;
- Silengo, Margherita;
- Zuffardi, Orsetta;
- Ciccone, Roberto
Publication type:
Article
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1793, doi. 10.1002/ajmg.a.35416
By:
- Cellini, Elena;
- Disciglio, Vittoria;
- Novara, Francesca;
- Barkovich, James A.;
- Mencarelli, Maria Antonietta;
- Hayek, Joussef;
- Renieri, Alessandra;
- Zuffardi, Orsetta;
- Guerrini, Renzo
Publication type:
Article
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.
Published in:
British Journal of Haematology, 2015, v. 170, n. 6, p. 826, doi. 10.1111/bjh.13504
By:
- Mantelli, Melissa;
- Avanzini, Maria Antonia;
- Rosti, Vittorio;
- Ingo, Daniela M.;
- Conforti, Antonella;
- Novara, Francesca;
- Arrigo, Giulia;
- Boni, Marina;
- Zappatore, Rita;
- Lenta, Elisa;
- Moretta, Antonia;
- Acquafredda, Gloria;
- Silvestri, Annalisa;
- Cirillo, Valentina;
- Cicchetti, Elisa;
- Algeri, Mattia;
- Strocchio, Luisa;
- Vinti, Luciana;
- Starc, Nadia;
- Biagini, Simone
Publication type:
Article
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Published in:
Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
By:
- Sharp, Andrew J.;
- Mefford, Heather C.;
- Kelly Li;
- Baker, Carl;
- Skinner, Cindy;
- Stevenson, Roger E.;
- Schroer, Richard J.;
- Novara, Francesca;
- De Gregori, Manuela;
- Ciccone, Roberto;
- Broomer, Adam;
- Casuga, Iris;
- Yu Wang;
- Chunlin Xiao;
- Barbacioru, Catalin;
- Gimelli, Giorgio;
- Bernardina, Bernardo Dalla;
- Torniero, Claudia;
- Giorda, Roberto;
- Regan, Regina
Publication type:
Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
By:
- Cova, Giulia;
- Glaser, Juliane;
- Schöpflin, Robert;
- Prada-Medina, Cesar Augusto;
- Ali, Salaheddine;
- Franke, Martin;
- Falcone, Rita;
- Federer, Miriam;
- Ponzi, Emanuela;
- Ficarella, Romina;
- Novara, Francesca;
- Wittler, Lars;
- Timmermann, Bernd;
- Gentile, Mattia;
- Zuffardi, Orsetta;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Published in:
2023
By:
- Cova, Giulia;
- Glaser, Juliane;
- Schöpflin, Robert;
- Prada-Medina, Cesar Augusto;
- Ali, Salaheddine;
- Franke, Martin;
- Falcone, Rita;
- Federer, Miriam;
- Ponzi, Emanuela;
- Ficarella, Romina;
- Novara, Francesca;
- Wittler, Lars;
- Timmermann, Bernd;
- Gentile, Mattia;
- Zuffardi, Orsetta;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
By:
- Cova, Giulia;
- Glaser, Juliane;
- Schöpflin, Robert;
- Prada-Medina, Cesar Augusto;
- Ali, Salaheddine;
- Franke, Martin;
- Falcone, Rita;
- Federer, Miriam;
- Ponzi, Emanuela;
- Ficarella, Romina;
- Novara, Francesca;
- Wittler, Lars;
- Timmermann, Bernd;
- Gentile, Mattia;
- Zuffardi, Orsetta;
- Spielmann, Malte;
- Mundlos, Stefan
Publication type:
Article
A kinetic study of guest displacement reactions on a host-guest complex with a photoswitchable calixarene.
Published in:
Journal of Mass Spectrometry, 2008, v. 43, n. 11, p. 1553, doi. 10.1002/jms.1464
By:
- Letzel, Matthias C.;
- Schäfer, Christian;
- Novara, Francesca R.;
- Speranza, Maurizio;
- Rozhenko, Alexander B.;
- Schoeller, Wolfgang W.;
- Mattay, Jochen
Publication type:
Article
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Published in:
Developmental Medicine & Child Neurology, 2019, v. 61, n. 12, p. 1439, doi. 10.1111/dmcn.14332
By:
- Remerand, Ganaelle;
- Boespflug‐Tanguy, Odile;
- Tonduti, Davide;
- Touraine, Renaud;
- Rodriguez, Diana;
- Curie, Aurore;
- Perreton, Nathalie;
- Des Portes, Vincent;
- Sarret, Catherine;
- Afenjar, Alexandra;
- Burglen, Lydie;
- Castellotti, Barbara;
- Cuntz, Danielle;
- Desguerre, Isabelle;
- Doummar, Diane;
- Estienne, Margherita;
- Freri, Elena;
- Heron, Delphine;
- Moutard, Marie‐Laure;
- Novara, Francesca
Publication type:
Article
De novo unbalanced translocations have a complex history/aetiology.
Published in:
Human Genetics, 2018, v. 137, n. 10, p. 817, doi. 10.1007/s00439-018-1941-9
By:
- Bonaglia, Maria Clara;
- Kurtas, Nehir Edibe;
- Errichiello, Edoardo;
- Bertuzzo, Sara;
- Beri, Silvana;
- Mehrjouy, Mana M.;
- Provenzano, Aldesia;
- Vergani, Debora;
- Pecile, Vanna;
- Novara, Francesca;
- Reho, Paolo;
- Di Giacomo, Marilena Carmela;
- Discepoli, Giancarlo;
- Giorda, Roberto;
- Aldred, Micheala A.;
- Santos-Rebouças, Cíntia Barros;
- Goncalves, Andressa Pereira;
- Abuelo, Diane N.;
- Giglio, Sabrina;
- Ricca, Ivana
Publication type:
Article
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
Published in:
Human Genetics, 2009, v. 126, n. 4, p. 511, doi. 10.1007/s00439-009-0689-7
By:
- Novara, Francesca;
- Beri, Silvana;
- Bernardo, Maria Ester;
- Bellazzi, Riccardo;
- Malovini, Alberto Maria;
- Ciccone, Roberto;
- Cometa, Angela;
- Locatelli, Franco;
- Giorda, Roberto;
- Zuffardi, Orsetta
Publication type:
Article
10 Years of Open Access Society Publishing.
Published in:
ChemistryOpen, 2021, v. 10, n. 1, p. 4, doi. 10.1002/open.202000353
By:
- Novara, Francesca Rita
Publication type:
Article
A Big Year for Open Access Chemistry Publishing.
Published in:
ChemistryOpen, 2020, v. 9, n. 1, p. 4, doi. 10.1002/open.201900361
By:
- Novara, Francesca Rita
Publication type:
Article
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115
By:
- Bonaglia, Maria C.;
- Marelli, Susan;
- Novara, Francesca;
- Commodaro, Simona;
- Borgatti, Renato;
- Minardo, Grazia;
- Memo, Luigi;
- Mangold, Elisabeth;
- Beri, Silvana;
- Zucca, Claudio;
- Brambilla, Daniele;
- Molteni, Massimo;
- Giorda, Roberto;
- Weber, Ruthild G.;
- Zuffardi, Orsetta
Publication type:
Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
Published in:
2010
By:
- van Bon, Bregje W M;
- Koolen, David A;
- Brueton, Louise;
- McMullan, Dominic;
- Lichtenbelt, Klaske D;
- Adès, Lesley C;
- Peters, Gregory;
- Gibson, Kate;
- Moloney, Susan;
- Novara, Francesca;
- Pramparo, Tiziano;
- Bernardina, Bernardo Dalla;
- Zoccante, Leonardo;
- Balottin, Umberto;
- Piazza, Fausta;
- Pecile, Vanna;
- Gasparini, Paolo;
- Guerci, Veronica;
- Kets, Marleen;
- Pfundt, Rolph
Publication type:
Correction Notice
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152
By:
- van Bon, Bregje W. M.;
- Koolen, David A.;
- Brueton, Louise;
- McMullan, Dominic;
- Lichtenbelt, Klaske D.;
- Adès, Lesley C.;
- Peters, Gregory;
- Gibson, Kate;
- Novara, Francesca;
- Pramparo, Tiziano;
- Bernardina, Bernardo Dalla;
- Zoccante, Leonardo;
- Balottin, Umberto;
- Piazza, Fausta;
- Pecile, Vanna;
- Gasparini, Paolo;
- Guerci, Veronica;
- Kets, Marleen;
- Pfundt, Rolph;
- de Brouwer, Arjan P.
Publication type:
Article
Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
Published in:
2010
By:
- van Bon, Bregje W. M.;
- Koolen, David A.;
- Brueton, Louise;
- McMullan, Dominic;
- Lichtenbelt, Klaske D.;
- Adès, Lesley C.;
- Peters, Gregory;
- Gibson, Kate;
- Novara, Francesca;
- Pramparo, Tiziano;
- Bernardina, Bernardo Dalla;
- Zoccante, Leonardo;
- Balottin, Umberto;
- Piazza, Fausta;
- Pecile, Vanna;
- Gasparini, Paolo;
- Guerci, Veronica;
- Kets, Marleen;
- Pfundt, Rolph;
- de Brouwer, Arjan P.
Publication type:
Correction Notice
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42
By:
- Torniero, Claudia;
- Dalla Bernardina, Bernardo;
- Novara, Francesca;
- Cerini, Roberto;
- Bonaglia, Clara;
- Pramparo, Tiziano;
- Ciccone, Roberto;
- Guerrini, Renzo;
- Zuffardi, Orsetta
Publication type:
Article
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730
By:
- Torniero, Claudia;
- Bernardina, Bernardo dalla;
- Novara, Francesca;
- Vetro, Annalisa;
- Ricca, Ivana;
- Darra, Francesca;
- Pramparo, Tiziano;
- Guerrini, Renzo;
- Zuffardi, Orsetta
Publication type:
Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Front Cover: In Celebration of the International Year of the Periodic Table 2019 (Chem. Eur. J. 1/2019).
Published in:
Chemistry - A European Journal, 2019, v. 25, n. 1, p. 1, doi. 10.1002/chem.201806054
By:
- Beardsworth, Stuart J.;
- Lyashenko, Ganna;
- Novara, Francesca R.;
- Ross, Haymo
Publication type:
Article
In Celebration of the International Year of the Periodic Table 2019.
Published in:
Chemistry - A European Journal, 2019, v. 25, n. 1, p. 5, doi. 10.1002/chem.201806054
By:
- Beardsworth, Stuart J.;
- Lyashenko, Ganna;
- Novara, Francesca R.;
- Ross, Haymo
Publication type:
Article
The Nobel Legacy: A Journey through Chemistry Inspired by the Achievements of Nobel Laureates.
Published in:
Chemistry - A European Journal, 2018, v. 24, n. 16, p. 3914, doi. 10.1002/chem.201800664
By:
- Novara, Francesca Rita;
- Ross, Haymo
Publication type:
Article
Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors.
Published in:
Journal of Cellular Biochemistry, 2011, v. 112, n. 7, p. 1817, doi. 10.1002/jcb.23100
By:
- Achille, Valentina;
- Mantelli, Melissa;
- Arrigo, Giulia;
- Novara, Francesca;
- Avanzini, Maria Antonietta;
- Bernardo, Maria Ester;
- Zuffardi, Orsetta;
- Barosi, Giovanni;
- Zecca, Marco;
- Maccario, Rita
Publication type:
Article
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
Published in:
Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 117, doi. 10.21873/cgp.20172
By:
- MARTINELLI, CAROLINA;
- GABRIELE, FABIO;
- MANAI, FEDERICO;
- CICCONE, ROBERTO;
- NOVARA, FRANCESCA;
- SAUTA, ELISABETTA;
- BELLAZZI, RICCARDO;
- PATANE, MONICA;
- MORONI, ISABELLA;
- PATERRA, ROSINA;
- COMINCINI, SERGIO
Publication type:
Article
Generation and Reactivity of Enantiomeric (BINOLato)Ni<sup>+</sup> Complexes with Chiral Secondary Alcohols in the Gas Phase.
Published in:
Chemistry - A European Journal, 2008, v. 14, n. 19, p. 5957, doi. 10.1002/chem.200800090
By:
- Novara, Francesca R.;
- Gruene, Philipp;
- Schröder, Detlef;
- Schwarz, Helmut
Publication type:
Article
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0230-3
By:
- Errichiello, Edoardo;
- Novara, Francesca;
- Cremante, Anna;
- Verri, Annapia;
- Galli, Jessica;
- Fazzi, Elisa;
- Bellotti, Daniela;
- Losa, Laura;
- Cisternino, Mariangela;
- Zuffardi, Orsetta
Publication type:
Article
MECP2 duplication phenotype in symptomatic females: report of three further cases.
Published in:
Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-10
By:
- Novara, Francesca;
- Simonati, Alessandro;
- Sicca, Federico;
- Battini, Roberta;
- Fiori, Simona;
- Contaldo, Annarita;
- Criscuolo, Lucia;
- Zuffardi, Orsetta;
- Ciccone, Roberto
Publication type:
Article
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.
Published in:
Journal of Translational Medicine, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1479-5876-12-95
By:
- Lucarelli, Enrico;
- Bellotti, Chiara;
- Mantelli, Melissa;
- Avanzini, Maria Antonietta;
- Maccario, Rita;
- Novara, Francesca;
- Arrigo, Giulia;
- Zuffardi, Orsetta;
- Zuntini, Monia;
- Pandolfi, Martina;
- Sangiorgi, Luca;
- Lisini, Daniela;
- Donati, Davide;
- Duchi, Serena
Publication type:
Article
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.
Published in:
2014
By:
- Lucarelli, Enrico;
- Bellotti, Chiara;
- Mantelli, Melissa;
- Avanzini, Maria Antonietta;
- Maccario, Rita;
- Novara, Francesca;
- Arrigo, Giulia;
- Zuffardi, Orsetta;
- Zuntini, Monia;
- Pandolfi, Martina;
- Sangiorgi, Luca;
- Lisini, Daniela;
- Donati, Davide;
- Duchi, Serena
Publication type:
journal article
The Method to our Chemistry.
Published in:
Chemistry - Methods, 2021, v. 1, n. 1, p. 5, doi. 10.1002/cmtd.202000074
By:
- Novara, Francesca Rita
Publication type:
Article
Scanning electron microscopy analysis of the growth of dental plaque on the surfaces of removable orthodontic aligners after the use of different cleaning methods.
Published in:
Clinical, Cosmetic & Investigational Dentistry, 2015, v. 7, p. 125, doi. 10.2147/CCIDE.S95814
By:
- Levrini, Luca;
- Novara, Francesca;
- Margherini, Silvia;
- Tenconi, Camilla;
- Raspanti, Mario
Publication type:
Article
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.
Published in:
2013
By:
- Tonduti, Davide;
- Vanderver, Adeline;
- Berardinelli, Angela;
- Schmidt, Johanna L.;
- Collins, Christin D.;
- Novara, Francesca;
- Genni, Antonia Di;
- Mita, Alda;
- Triulzi, Fabio;
- Brunstrom-Hernandez, Janice E.;
- Zuffardi, Orsetta;
- Balottin, Umberto;
- Orcesi, Simona
Publication type:
Case Study
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
Published in:
Pediatric Blood & Cancer, 2012, v. 59, n. 3, p. 580, doi. 10.1002/pbc.23401
By:
- De Filippi, Paola;
- Zecca, Marco;
- Novara, Francesca;
- Lisini, Daniela;
- Maserati, Emanuela;
- Pasquali, Francesco;
- Rosti, Vittorio;
- Carlo-Stella, Carmelo;
- Zavras, Niki;
- Cagioni, Claudia;
- Zuffardi, Orsetta;
- Pagliara, Daria;
- Danesino, Cesare;
- Locatelli, Franco
Publication type:
Article
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.
Published in:
PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002173
By:
- Bonaglia, Maria Clara;
- Giorda, Roberto;
- Beri, Silvana;
- De Agostini, Cristina;
- Novara, Francesca;
- Fichera, Marco;
- Grillo, Lucia;
- Galesi, Ornella;
- Vetro, Annalisa;
- Ciccone, Roberto;
- Bonati, Maria Teresa;
- Giglio, Sabrina;
- Guerrini, Renzo;
- Osimani, Sara;
- Marelli, Susan;
- Zucca, Claudio;
- Grasso, Rita;
- Borgatti, Renato;
- Mani, Elisa;
- Motta, Cristina
Publication type:
Article
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140
By:
- Novara, Francesca;
- Groeneweg, Stefan;
- Freri, Elena;
- Estienne, Margherita;
- Reho, Paolo;
- Matricardi, Sara;
- Castellotti, Barbara;
- Visser, W. Edward;
- Zuffardi, Orsetta;
- Visser, Theo J.
Publication type:
Article
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.
Published in:
2015
By:
- Rondinelli, Maurizio;
- Novara, Francesca;
- Calcaterra, Valeria;
- Zuffardi, Orsetta;
- Genovese, Stefano
Publication type:
Report
Hyper Ig E syndrome: anaphylaxis in a patient carrying the N567 D STAT3 mutation.
Published in:
Pediatric Allergy & Immunology, 2014, v. 25, n. 5, p. 503, doi. 10.1111/pai.12217
By:
- Merli, Pietro;
- Novara, Francesca;
- Montagna, Daniela;
- Benzo, Serena;
- Tanzi, Matteo;
- Turin, Ilaria;
- De Amici, Mara;
- Merli, Angelo;
- Zuffardi, Orsetta;
- Marseglia, Gian Luigi
Publication type:
Article
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.
Published in:
2014
By:
- Caretto, Amelia;
- Primerano, Liviana;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Genovese, Stefano;
- Rondinelli, Maurizio
Publication type:
Case Study

Found: 47