Pubblicazioni

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice

2015 - HUMAN MOLECULAR GENETICS

Pelosi, Laura; Berardinelli, Maria Grazia; Forcina, Laura; Spelta, Elisa; Rizzuto, Emanuele; Nicoletti, Carmine; Camilli, Carlotta; Testa, Erika; Catizone, Angela; De Benedetti, Fabrizio; MusarÃ², Antonio

Ultrastructural markers of quality are impaired in human metaphase II aged oocytes: a comparison between reproductive and in vitro aging

2015 - JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Bianchi, S; Macchiarelli, G.; Micara, Giulietta; Linari, Antonella; Boninsegna, Claudia; Aragona, Cesare; Rossi, G.; Cecconi, S.; Nottola, Stefania Annarita

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-Ã-cyclodextrin

2015 - ORPHANET JOURNAL OF RARE DISEASES

Palladino, Giampiero; Loizzo, Stefano; Fortuna, Andrea; Canterini, Sonia; Palombi, Fioretta; Erickson, Robert Porter; Mangia, Franco; Fiorenza, Maria Teresa

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Capalbo, Antonio; Treff, Nathan R; Cimadomo, Danilo; Tao, Xin; Upham, Kathleen; Ubaldi, Filippo Maria; Rienzi, Laura; Scott, Richard T.

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

2015 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

2015 - HUMAN MOLECULAR GENETICS

Peterlongo, Paolo; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massimo; Marin, Maria; Damiola, Francesca; Bernard, Loris; Pensotti, Valeria; Volorio, Sara; Dall'Olio, Valentina; Meindl, Alfons; Bartram, Claus; Sutter, Christian; Surowy, Harald; Sornin, ValÃ©rie; Dondon, Marie Gabrielle; Eon Marchais, SÃ©verine; Stoppa Lyonnet, Dominique; Andrieu, Nadine; Sinilnikova, Olga M.; Mitchell, Gillian; James, Paul A.; Thompson, Ella; Marchetti, Marina; Verzeroli, Cristina; Tartari, Carmen; Capone, Gabriele Lorenzo; Putignano, Anna Laura; Genuardi, Maurizio; Medici, Veronica; Marchi, Isabella; Federico, Massimo; Tognazzo, Silvia; Matricardi, Laura; Agata, Simona; Dolcetti, Riccardo; Puppa, Lara Della; Cini, Giulia; Gismondi, Viviana; Viassolo, Valeria; Perfumo, Chiara; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Peissel, Bernard; Roversi, Gaia; Silvestri, Valentina; Rizzolo, Piera; Spina, Francesca; Vivanet, Caterina; Tibiletti, Maria Grazia; Caligo, Maria Adelaide; Gambino, Gaetana; Tommasi, Stefania; Pilato, Brunella; Tondini, Carlo; Corna, Chiara; Bonanni, Bernardo; Barile, Monica; Osorio, Ana; Benitez, Javier; Balestrino, Luisa; Ottini, Laura; Manoukian, Siranoush; Pierotti, Marco A.; Renieri, Alessandra; Varesco, Liliana; Couch, Fergus J.; Wang, Xianshu; Devilee, Peter; Hilbers, Florentine S.; van Asperen, Christi J.; Viel, Alessandra; Montagna, Marco; Cortesi, Laura; Diez, Orland; BalmaÃ±a, Judith; Hauke, Jan; Schmutzler, Rita K.; Papi, Laura; Pujana, Miguel Angel; LÃ¡zaro, Conxi; Falanga, Anna; Offit, Kenneth; Vijai, Joseph; Campbell, Ian; Burwinkel, Barbara; Kvist, Anders; Ehrencrona, Hans; Mazoyer, Sylvie; Pizzamiglio, Sara; Verderio, Paolo; Surralles, Jordi; Rogan, Peter K.; Radice, Paolo

Epigenetic treatment of solid tumours. A review of clinical trials

2015 - CLINICAL EPIGENETICS

Nervi, Clara; DE MARINIS, Elisabetta; CODACCI PISANELLI, Giovanni

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Carvill, Gemma L; Mcmahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; MÃ¸ller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

2015 - HUMAN MUTATION

Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M.; Pinto, Dalila; Vaags, Andrea K.; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R.; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Marshall, Christian R.; Scherer, Stephen W.; Strug, Lisa J.; Collier, David A.; Pal, Deb K.

Bleeding phenotype and correlation with factor XI (FXI) activity in congenital FXI deficiency: Results of a retrospective study from a single centre

2015 - HAEMOPHILIA

Santoro, Cristina; DI MAURO, Roberta; Baldacci, E.; DE ANGELIS, Federico; Abbruzzese, R.; Barone, Francesco; Bochicchio, RAFFAELE ANGELO; Ferrara, G.; Guarini, Anna; Foa, Roberto; Mazzucconi, Maria Gabriella

A prismatic view of protein phosphorylation in health and disease

2015 - FRONTIERS IN GENETICS

Via, Allegra; Zanzoni, Andreas

Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

2015 - PRENATAL DIAGNOSIS

D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno

Qualitative and quantitative differences of adipose-derived stromal cells from superficial and deep subcutaneous lipoaspirates: A matter of fat

2015 - CYTOTHERAPY

DI TARANTO, Giuseppe; Cicione, Claudia; Visconti, Giuseppe; IsgrÃ², Maria A.; Barba, Marta; Di Stasio, Enrico; Stigliano, Egidio; Bernardini, Camilla; Michetti, Fabrizio; Salgarello, Marzia; Lattanzi, Wanda

Pharmacokinetics of plasma-derived vs. recombinant FVIII concentrates: A comparative study

2015 - HAEMOPHILIA

Morfini, M; Marchesini, E.; Paladino, E.; Santoro, Cristina; Zanon, E.; Iorio, A.

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

2015 - MOLECULAR CYTOGENETICS

Primerano, A.; Colao, E.; Villella, C.; Nocera, M. D.; Ciambrone, A.; Luciano, E.; D'Antona, L.; Vismara, M. F. M.; Loddo, S.; Novelli, A.; Perrotti, N.; Malatesta, Paola