Pubblicazioni

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

2015 - GENOME RESEARCH

Borck, Guntram; HÃ¶g, Friederike; Dentici, MARIA LISA; Tan, Perciliz L.; Sowada, Nadine; Medeira, Ana; Gueneau, Lucie; Thiele, Holger; Kousi, Maria; Lepri, Francesca; Wenzeck, Larissa; Blumenthal, Ian; Radicioni, Antonio; Schwarzenberg, Tito Livio; Mandriani, Barbara; Fischetto, Rita; Morris Rosendahl, Deborah J.; AltmÃ¼ller, Janine; Reymond, Alexandre; NÃ¼rnberg, Peter; Merla, Giuseppe; Dallapiccola, Bruno; Katsanis, Nicholas; Cramer, Patrick; Kubisch, Christian

A meta-analysis of somatic KCNJ5 K<sup>+</sup> channel mutations in 1636 patients with an aldosterone-producing adenoma

2015 - THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

Lenzini, Livia; Rossitto, Giacomo; Maiolino, Giuseppe; Letizia, Claudio; Funder, John W.; Rossi, Gian Paolo

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

2015 - EPILEPSY RESEARCH

Dazzo, Emanuela; Santulli, Lia; Posar, Annio; Fattouch, Jinane; Conti, Sara; LodÃ©n van Straaten, Martin; Mijalkovic, Jona; De Bortoli, Marzia; Rosa, Maurizio; Millino, Caterina; Pacchioni, Beniamina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Striano, Salvatore; Striano, Pasquale; Parmeggiani, Antonia; Nobile, Carlo

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

2015 - THROMBOSIS RESEARCH

Telomere fusion in Drosophila: The role of subtelomeric chromatin

2015 - FLY

Marzullo, Marta; Gatti, Maurizio