Pubblicazioni

Parasitic effects on the congenital transmission of trypanosoma cruzi in motherânewborn Pairs

2024 - MICROORGANISMS

Herrera Choque, Ana Gabriela; Cuna, Washington R.; Gabrielli, Simona; Mattiucci, Simonetta; Passera, Roberto; Rodriguez, Celeste

Persistent primitive hypoglossal artery: a case study with a dissertation on its embryo-pathological rationale

2024 - ITALIAN JOURNAL OF ANATOMY AND EMBRYOLOGY

Forte, Flavio; Danti, Massimiliano; Pace, Marco; Palmieri, Mauro; Serraino, Alessandra; Artico, Marco; Maria Galassi, Francesco

The Transition of Care for Patients with Anorectal Malformations and Hirschsprung Disease: A European Survey

2022 - EUROPEAN JOURNAL OF PEDIATRIC SURGERY

Violani, Cristiano; Grano, Caterina; Fernandes, Mariana; Prato, Alessio Pini; Feitz, Wout F. J.; Wijnen, Rene; Battye, Michelle; Schwarzer, Nicole; Lemli, Annette; Cavalieri, Duccio; Aminoff, Dalia

Adult phenotype of KCNQ2 encephalopathy

2021 - JOURNAL OF MEDICAL GENETICS

Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; MÃ¸ller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

2021 - JOURNAL OF MEDICAL GENETICS

Nuovo, S.; Micalizzi, A.; Romaniello, R.; Arrigoni, F.; Ginevrino, M.; Casella, A.; Serpieri, V.; D'Arrigo, S.; Briguglio, M.; Salerno, G. G.; Rossato, S.; Sartori, S.; Leuzzi, V.; Battini, R.; Ben-Zeev, B.; Graziano, C.; Mirabelli Badenier, M.; Brankovic, V.; Nardocci, N.; Spiegel, R.; Petkovic RamadAa, D.; Vento, G.; Marti, I.; Simonati, A.; Dipresa, S.; Freri, E.; Mazza, T.; Bassi, M. T.; Bosco, L.; Travaglini, L.; Zanni, G.; Bertini, E. S.; Vanacore, N.; Borgatti, R.; Valente, E. M.

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

2021 - JOURNAL OF MEDICAL GENETICS

Serpieri, Valentina; D'Abrusco, Fulvio; C Dempsey, Jennifer; Hank Cheng, Yong-Han; Arrigoni Janice Baker, Filippo; Battini, Roberta; Silvio Bertini, Enrico; Borgatti, Renato; K Christman, Angela; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; E Ishak, Gisele; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; V Miller, Caitlin; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; SzczaÅuba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Maria Valente, Enza

Congenital Chagas disease in a Bolivian newborn in Bergamo (Italy)

2018 - LE INFEZIONI IN MEDICINA

Bargiggia, Graziano; Ruggeri, Maurizio; Ortalli, Gaia; Gabrielli, Simona; Rodari, Paola; D'Antiga, Lorenzo; Farina, Claudio

Rare congenital bleeding disorders

2018 - ANNALS OF TRANSLATIONAL MEDICINE

Franchini, Massimo; Marano, Giuseppe; Pupella, Simonetta; Vaglio, Stefania; Masiello, Francesca; Veropalumbo, Eva; Piccinini, Vanessa; Pati, Ilaria; Catalano, Liviana; Liumbruno, Giancarlo Maria

Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report

2018 - CARDIOLOGY IN THE YOUNG

Attene, Jessica; Casorelli, Ernesto; Versacci, Paolo

Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia

2017 - SEMINARS IN THROMBOSIS AND HEMOSTASIS

Franchini, Massimo; Marano, Giuseppe; Mengoli, Carlo; Piccinini, Vanessa; Pupella, Simonetta; Vaglio, Stefania; Liumbruno, Giancarlo Maria

A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma identification of novel and recurrent VGLL2-related fusions in infantile cases

2016 - THE AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Alaggio, Rita; Zhang, Lei; Sung, Yun Shao; Huang, Shih Chiang; Chen, Chun Liang; Bisogno, Gianni; Zin, Angelica; Agaram, Narasimhan P.; Laquaglia, Michael P.; Wexler, Leonard H.; Antonescu, Cristina R.