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

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

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.

A prismatic view of protein phosphorylation in health and disease

2015 - FRONTIERS IN GENETICS

Via, Allegra; Zanzoni, Andreas

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

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