UOC Laboratorio di Genetica Medica
Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. 2018 Feb 3.
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Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. Eur J Hum Genet. 2018 Feb 21.
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D'Andrea, E., Lagerberg, T., De Vito, C., Pitini, E., Marzuillo, C., Massimi, A., Vacchio, MR., Grammatico, P., and Villari, P. (2018). Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia.Eur J Hum Genet. 2018 Jan 26.
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Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. Biochim Biophys Acta. 2018 Feb;1864(2):464-470.
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Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2018 Jan;93(1):126-133.
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UOC Medicina Trasfusionale e Cellule Staminali
D'Aloia MM, Zizzari IG, Sacchetti B, Pierelli L, Alimandi M. CAR-T cells: the long and winding road to solid tumors. Cell Death Dis. 2018 Feb 15;9(3):282.
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Marchesi F, Vacca M, Giannarelli D, Ipsevich F, Pandolfi A, Gumenyuk S, Renzi D, Palombi F, Pisani F, Romano A, Spadea A, Papa E, Canfora M, Pierelli L, Mengarelli A. Lenograstim 5 µg/kg is not superior to biosimilar filgrastim 10 µg/kg in lymphoma patients undergoing peripheral blood stem cell mobilization after chemotherapy: preliminary results from a prospective randomized study. Transfusion. 2018 Feb 15.
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Matteocci A, De Rosa A, Buffone E, Pierelli L. Retrospective analysis of HDFN due to ABO incompatibility in a single institution over 6 years. Transfus Med. 2018 Jan 25.
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Cesaro S, Crocchiolo R, Tridello G, Knelange N, Van Lint MT, Koc Y, Ciceri F, Gülbas Z, Tischer J, Afanasyev B, Bruno B, Castagna L, Blaise D, Mohty M, Irrera G, Diez-Martin JL, Pierelli L, Pioltelli P, Arat M, Delia M, Fagioli F, Ehninger G, Aljurf M, Carella AM, Ozdogu H, Mikulska M, Ljungman P, Nagler A, Styczynski J. Comparable survival using a CMV-matched or a mismatched donor for CMV+ patients undergoing T-replete haplo-HSCT with PT-Cy for acute leukemia: a study of behalf of the infectious diseases and acute leukemia working parties of the EBMT. Bone Marrow Transplant. 2018 Jan 12.
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Daniels G, Finning K, Lozano M, Hyland CA, Liew YW, Powley T, Castilho L, Bonet Bub C, Kutner JM, Banch Clausen F, Christiansen M, Sulin K, Haimila K, Legler TJ, Lambert M, Ryan H, Ní Loingsigh S, Matteocci A, Pierelli L, Dovc Drnovsek T, Bricl I, Nogués N, Muñiz-Diaz E, Olsson ML, Wikman A, de Haas M, van der Schoot CE, Massey E, Westhoff CM. Vox Sanguinis International Forum on application of fetal blood grouping: summary. Vox Sang. 2018 Feb;113(2):198-201.
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Daniels G, Finning K, Lozano M, Hyland CA, Liew YW, Powley T, Castilho L, Bonet Bub C, Kutner JM, Banch Clausen F, Christiansen M, Sulin K, Haimila K, Legler TJ, Lambert M, Ryan H, Ní Loingsigh S, Matteocci A, Pierelli L, Dovc Drnovsek T, Bricl I, Nogués N, Muñiz-Diaz E, Olsson ML, Wikman A, de Haas M, van der Schoot CE, Massey E, Westhoff CM. Vox Sanguinis International Forum on application of fetal blood grouping. Vox Sang. 2018 Feb;113(2):e26-e35.
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Pierelli L, Bosi A, Olivieri A. "Best practice" for extracorporeal photopheresis in acute and chronic graft-versus-host disease by Societa' Italiana di Emaferesi and Manipolazione Cellulare and Gruppo Italiano Trapianto Midollo Osseo: a national survey to ascertain its degree of application in Italian transplant centers. Transfusion. 2018 Jan;58(1):217-222.
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Strunk D, Lozano M, Marks DC, Loh YS, Gstraunthaler G, Schennach H, Rohde E, Laner-Plamberger S, Öller M, Nystedt J, Lotfi R, Rojewski M, Schrezenmeier H, Bieback K, Schäfer R, Bakchoul T, Waidmann M, Jonsdottir-Buch SM, Montazeri H, Sigurjonsson OE, Iudicone P, Fioravanti D, Pierelli L, Introna M, Capelli C, Falanga A, Takanashi M, Lόpez-Villar O, Burnouf T, Reems JA, Pierce J, Preslar AM, Schallmoser K. International Forum on GMP-grade human platelet lysate for cell propagation: summary. Vox Sang. 2018 Jan;113(1):80-87.
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I Strunk D, Lozano M, Marks DC, Loh YS, Gstraunthaler G, Schennach H, Rohde E, Laner-Plamberger S, Öller M, Nystedt J, Lotfi R, Rojewski M, Schrezenmeier H, Bieback K, Schäfer R, Bakchoul T, Waidmann M, Jonsdottir-Buch SM, Montazeri H, Sigurjonsson OE, Iudicone P, Fioravanti D, Pierelli L, Introna M, Capelli C, Falanga A, Takanashi M, López-Villar O, Burnouf T, Reems JA, Pierce J, Preslar AM, Schallmoser K. nternational Forum on GMP-grade human platelet lysate for cell propagation.Vox Sang. 2018 Jan;113(1):e1-e25.
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Bierings M, Bonfim C, Peffault De Latour R, Aljurf M, Mehta PA, Knol C, Boulad F, Tbakhi A, Esquirol A, McQuaker G, Sucak GA, Othman TB, Halkes CJM, Carpenter B, Niederwieser D, Zecca M, Kröger N, Michallet M, Risitano AM, Ehninger G, Porcher R, Dufour C; EBMT SAA WP. Transplant results in adults with Fanconi anaemia. Collaborators: Bonfirm C, Socié G, Gurman G, Ghavamzadeh A, Hamladji RM, van Lint MT, Stepensky P, Koh M, Ozkurt ZN, Veelken JH, Bunjes D, Beelen D, Campos A, Robinson S, Alessandrino EP, Unal A, Fernandez Navarro JM, Mufti GJ, Velardi A, Passweg J, Apperley J, Sengeloev H, Ljungman P, Foá R, Alegre A, Espiga CR, Cornelissen JJ, Di Bartolomeo P, Cordonnier C, Browne P, Jubert C, Gastl G, Pierelli L, Johansson JE, Fagioli F, Moraleda J, Zuckerman T, Bazarbachi A, Sedlacek P, Rössig C, Wynn RF, Hallek M, Toren A, Zudaire T, Clausen J, Spencer A, Grazon Lopez S, Schots R, Komarnicki M, González Muniz S, Vitek A, Rambaldi A, Merli F, Rubio MT, Rossig C, Cabrera Marín JR, Porto F, Kerre T, Metzner B, Stein J, Bertrand Y, Ciceri F, Chybicka A, Diez-Martin JL, Bayoumy M, de la Fuente J, Fegueux N. Br J Haematol. 2018 Jan;180(1):100-109.
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UOC Neuroradiologia
Della Pepa GM, Bianchi F, Scerrati A, Albanese A, Cotroneo E, Delitala A, Gigli R, La Rocca G, Marchese E, Pedicelli A, Puca A, Sabatino G, Olivi A, Sturiale CL. Secondary coiling after incomplete surgical clipping of cerebral aneurysms: a rescue strategy or a treatment option for complex cases? Institutional series and systematic review. Neurosurg Rev. 2018 Feb 7.
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