Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

Authors: Villa, R., Fergnani, V.G.C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P.F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., Srour, M., Spaccini, L., Righini, A., Greco, D., Castiglia, L., Romano, C., Bedeschi, M.F.

Source: In European Journal of Paediatric Neurology September 2020 28:110-119

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

Authors: Pichiecchio, A., Sacco, S., De Filippi, P., Caverzasi, E., Ravaglia, S., Bastianello, S., Danesino, C.

Source: JOURNAL OF NEUROLOGY -BERLIN-. 264(10):2110-2118

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN385641446&indx=1&recIds=ETOCRN385641446

Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia

Authors: Colombo, G., Bortolotti, F., Chiapponi, V., Buttini, F., Sonvico, F., Invernizzi, R., Quaglia, F., Danesino, C., Pagella, F., Russo, P., Bettini, R., Colombo, P., Rossi, A.

Source: International journal of pharmaceutics. 514(1):229-237

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100066134074.0x000001&indx=1&recIds=ETOCvdc_100066134074.0x000001

Dendrochimica in situ mediante LA-ICP-MS: una finestra sull'evoluzione storica dell'inquinamento da metalli pesanti. Il caso dell'area di Taranto

Authors: Tiepolo, M., Langone, A., Danesino, C., Sacchi, E., Nola, P., Ziliani, S., Ficocelli, S., Giua, R.

Source: Atti dei convegni Lincei. 297:63-70

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606270559&indx=1&recIds=ETOCRN606270559

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Authors: Montagnese, F., Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., Filippi, P., Danesino, C., Toscano, A.

Source: JOURNAL OF NEUROLOGY -BERLIN-. 262(4):968-978

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN369673085&indx=1&recIds=ETOCRN369673085

Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia

Authors: Massa, M., Canzonieri, C., Campanelli, R., Ornati, F., Fois, G., Pagella, F., Matti, E., Buscarini, E., Danesino, C., Rosti, V.

Source: INTERNATIONAL JOURNAL OF HEMATOLOGY. 101(1):23-31

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN365752964&indx=1&recIds=ETOCRN365752964

Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxis

Authors: Draghi, F., Presazzi, A., Danesino, G.M., de Matthaeis, N., Rapaccini, G.L., Danesino, C.

Source: In Journal of Ultrasound September 2012 15(3):164-170

Breast cancer and genetics

Authors: Boeri, L., Canzonieri, C., Cagioni, C., Ornati, F., Danesino, C.

Source: In Journal of Ultrasound 2011 14(4):171-176

Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

Authors: Cesaro, S., Filippi, P., Meglio, A., Leszl, A., Donska, S., Zaccaron, A., Cagioni, C., Galavotti, R., Danesino, C., Aprili, F.

Source: INTERNATIONAL JOURNAL OF HEMATOLOGY. 99(2):208-212

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN347540752&indx=1&recIds=ETOCRN347540752

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Authors: Canzonieri, C., Centenara, L., Ornati, F., Pagella, F., Matti, E., Alvisi, C., Danesino, C., Perego, M., Olivieri, C.

Source: GENETICS IN MEDICINE. 16(1):3-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN345177046&indx=1&recIds=ETOCRN345177046

Familial adult-onset Pompe disease associated with unusual clinical and histological features

Authors: Maggi, L., Salerno, F., Bragato, C., Saredi, S., Blasevich, F., Maccagnano, E., Pasanisi, B., Danesino, C., Mora, M., Morandi, L.

Source: ACTA MYOLOGICA. 32(2):85-90

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN345141891&indx=1&recIds=ETOCRN345141891

Grade of Pulmonary Right-to-Left Shunt on Contrast Echocardiography and Cerebral Complications: A Striking Association

Authors: Velthuis, S., Buscarini, E., van Gent, M.W.F., Gazzaniga, P., Manfredi, G., Danesino, C., Schonewille, W.J., Westermann, C.J.J., Snijder, R.J., Mager, J.J.

Source: CHEST -CHICAGO-. 144(2):542-548

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN337442247&indx=1&recIds=ETOCRN337442247

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

Authors: Guala, A., Massa, P., Foscolo, A.M., Olivero, F., Van Maldergem, L., Danesino, C.

Source: CLINICAL DYSMORPHOLOGY. 22(1):29-32

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN330233702&indx=1&recIds=ETOCRN330233702

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Authors: Boeri, L., Radi, O., Canzonieri, C., Buscarini, E., Scatigno, A., Minelli, A., Ornati, F., Pagella, F., Danesino, C., Olivieri, C.

Source: MOLECULAR SYNDROMOLOGY. 4(3):119-124

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN329996580&indx=1&recIds=ETOCRN329996580

Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds

Authors: Pagella, F., Matti, E., Chu, F., Pusateri, A., Tinelli, C., Olivieri, C., Canzonieri, C., Boeri, L., Ornati, F., Danesino, C.

Source: ACTA OTOLARYNGOLOGICA. 133(2):174-180

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN325252945&indx=1&recIds=ETOCRN325252945

Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

Authors: Ravaglia, S., De Filippi, P., Pichiecchio, A., Ponzio, M., Saeidi Garaghani, K., Poloni, G. U., Bini, P., Danesino, C.

Source: MOLECULAR GENETICS AND METABOLISM. 107(1/2):104-110

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN318418420&indx=1&recIds=ETOCRN318418420

Early onset of a nasal perivascular epitheloid cell neoplasm not related to tuberous sclerosis complex

Authors: Gana, S., Morbini, P., Giourgos, G., Matti, E., Chu, F., Danesino, C., Pagella, F.

Source: ACTA OTORHINOLARYNGOLOGICA ITALIA. 32(3):198-201

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN316646201&indx=1&recIds=ETOCRN316646201

Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

Authors: Buscarini, E., Leandro, G., Conte, D., Danesino, C., Daina, E., Manfredi, G., Lupinacci, G., Brambilla, G., Menozzi, F., Grazia, F.

Source: DIGESTIVE DISEASES AND SCIENCES. 56(7):2166-2178

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN292658896&indx=1&recIds=ETOCRN292658896

Familial occurrence of Turner syndrome: casual event or increased risk?

Authors: Larizza, D., Danesino, C., Maraschio, P., Caramagna, C., Klersy, C., Calcaterra, V.

Source: JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM. 24(3/4):223-226

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN290433834&indx=1&recIds=ETOCRN290433834

Electroclinical findings in four patients with karyotype 47,XYY

Authors: Torniero, C., Bernardina, B. D., Fontana, E., Darra, F., Danesino, C., Elia, M.

Source: BRAIN AND DEVELOPMENT -INTERNATIONAL EDITION-. 33(5):384-389

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN289034206&indx=1&recIds=ETOCRN289034206