MARTA UNOLT

Dottoressa di ricerca

ciclo: XXXIV

Titolo della tesi: STUDY OF GENETIC CAUSES OF CONGENITALLY CORRECTED TRANSPOSITION OF GREAT ARTERIES IN SITUS SOLITUS (S,L,L)

During the process of cardiac looping the primitive heart tube lengthens, bends and rotate counterclockwise (D-looping), establishing the left-right asymmetry of the ventricles. Normally, the ventricular D-looping occurs with the development of a viscero-atrial situs solitus and with a usual alignment and connection of the great arteries. If the rotation occurs pathologically clockwise (L-looping) the future left ventricle will be located on the right side of the heart. This may happen in situs inversus, ambiguus (heterotaxy) or solitus (resulting in congenital heart defects, CHDs, with atrioventricular discordance). For the first two conditions a role of the pathogenetic variants (PV) in laterality genes has been established, while there are only few genetic studies concerning CHDs with ventricular L-looping and situs solitus, mostly the congenitally corrected transposition of the great arteries (CCTGA). In this study we researched for possible PV in laterality genes in patients with CCTGA and situs solitus, using a Next Generation Sequencing (NGS) panel for laterality defects genes and analyzing the whole exome in family trios. We recruited, in our Institutions, 41 patients affected by CCTGA (average age 12 years, 57% male). All patients underwent an abdominal and urinary tract ultrasound and a chest X-ray, to identify visceral situs anomalies and to screen for anomalies associated with ciliopathies, and a genetic evaluation aiming to recognize syndromic patients and familiarity for hereditary diseases. Genetic analysis via NGS panel highlighted a variant in the ZIC3 gene in two patients. Whole exome analysis revealed variants in NODAL gene and in the DNAH genes in 6 patients. Moreover, variants in genes implicated in the pathogenesis of other CHDs (NKX2-5, CITED2, IRX4, EXD3) or other known malformative syndromes (TBX3, SOX7) were identified in 6 patients.

Produzione scientifica

11573/1702818 - 2023 - Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

Freud, Lindsay R.; Galloway, Stephanie; Crowley, T. Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, J. William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; Mcdonald-Mcginn, Donna M. - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (St. Louis: C.V. Mosby Co. Latest publisher: New York: Elsevier) pp. - - issn: 0002-9378 - wos: (0) - scopus: 2-s2.0-85174044190 (2)

11573/1684078 - 2023 - Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Óskarsdóttir, Sólveig; Boot, Erik; Crowley, Terrence Blaine; Loo, Joanne C Y; Arganbright, Jill M; Armando, Marco; Baylis, Adriane L; Breetvelt, Elemi J; Castelein, René M; Chadehumbe, Madeline; Cielo, Christopher M; De Reuver, Steven; Eliez, Stephan; Fiksinski, Ania M; Forbes, Brian J; Gallagher, Emily; Hopkins, Sarah E; Jackson, Oksana A; Levitz-Katz, Lorraine; Klingberg, Gunilla; Lambert, Michele P; Marino, Bruno; Mascarenhas, Maria R; Moldenhauer, Julie; Moss, Edward M; Nowakowska, Beata Anna; Orchanian-Cheff, Ani; Putotto, Carolina; Repetto, Gabriela M; Schindewolf, Erica; Schneider, Maude; Solot, Cynthia B; Sullivan, Kathleen E; Swillen, Ann; Unolt, Marta; Van Batavia, Jason P; Vingerhoets, Claudia; Vorstman, Jacob; Bassett, Anne S; Mcdonald-Mcginn, Donna M - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Inc. Baltimore MD: Lippincott Williams & Wilkins) pp. 100338- - issn: 1530-0366 - wos: WOS:001029315800001 (6) - scopus: 2-s2.0-85146771243 (17)

11573/1684176 - 2023 - Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 104651- - issn: 1769-7212 - wos: WOS:000899351000013 (0) - scopus: 2-s2.0-85141768764 (0)

11573/1669249 - 2022 - Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes{\textemdash}A report of 74 cases with systematic review of the literature

Mastromoro, Gioia; Calcagni, Giulio; Vignaroli, Walter; Anaclerio, Silvia; Pugnaloni, Flaminia; Rinelli, Gabriele; Secinaro, Aurelio; Bordonaro, Veronica; Putotto, Carolina; Unolt, Marta; Cristina Digilio, Maria; Marino Taussig De Bodonia, Bruno; Versacci, Paolo - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4825 - wos: WOS:000789296400001 (4) - scopus: 2-s2.0-85129191379 (3)

11573/1672389 - 2022 - Coexisting genetic findings in a cohort of patients with laboratory confirmation of 22q11.2 deletion syndrome

Pugnaloni, F.; Putotto, C.; Mastromoro, G.; Pulvirenti, F.; Maiolo, S.; Unolt, M.; Digilio, M. C.; Giovannetti, A.; Caputo, V.; Versacci, P.; Marino, B. - 04f Poster

congresso: Italian Society of Paediatric Cardiology SICPED (Verona)

libro: Atti del congresso SICPED - ()

11573/1670969 - 2022 - 22q11.2 Deletion Syndrome. Impact of Genetics in the Treatment of Conotruncal Heart Defects

Putotto, C.; Pugnaloni, F.; Unolt, M.; Maiolo, S.; Trezzi, M.; Digilio, M. C.; Cirillo, A.; Limongelli, G.; Marino, B.; Calcagni, G.; Versacci, P. - 01g Articolo di rassegna (Review)

rivista: CHILDREN (Basel: MDPI AG, 2014-) pp. 1-14 - issn: 2227-9067 - wos: WOS:000817704200001 (7) - scopus: 2-s2.0-85131526222 (8)

11573/1664965 - 2022 - Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

Putotto, Carolina; Pulvirenti, Federica; Pugnaloni, Flaminia; Isufi, Ina; Unolt, Marta; Anaclerio, Silvia; Caputo, Viviana; Bernardini, Laura; Messina, Elisa; Moretti, Corrado; Tarani, Luigi; Marino, Bruno; Versacci, Paolo - 01a Articolo in rivista

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2334- - issn: 2073-4425 - wos: WOS:000902748800001 (0) - scopus: 2-s2.0-85144573205 (0)

11573/1569618 - 2021 - Cardiac defects and genetic syndromes: old uncertainties and new insights

Calcagni, G.; Pugnaloni, F.; Digilio, M. C.; Unolt, M.; Putotto, C.; Niceta, M.; Baban, A.; Sparascio, F. P.; Drago, F.; De Luca, A.; Tartaglia, M.; Marino, B.; Versacci, P. - 01g Articolo di rassegna (Review)

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 1047- - issn: 2073-4425 - wos: WOS:000677373200001 (11) - scopus: 2-s2.0-85110670442 (13)

11573/1618385 - 2021 - Congenital heart defects in molecularly confirmed KBG syndrome patients

Digilio, M. C.; Calcagni, G.; Gnazzo, M.; Versacci, P.; Dentici, M. L.; Capolino, R.; Sinibaldi, L.; Baban, A.; Putotto, C.; Alfieri, P.; Unolt, M.; Lepri, F. R.; Alesi, V.; Genovese, S.; Novelli, A.; Marino, B.; Dallapiccola, B. - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4825 - wos: WOS:000736707500001 (3) - scopus: 2-s2.0-85122498681 (4)

11573/1443519 - 2020 - Atypical cardiac defects in patients with RASopathies: updated data on CARNET study

Calcagni, G.; Gagliostro, G.; Limongelli, G.; Unolt, M.; De Luca, E.; Digilio, M. C.; Baban, A.; Albanese, S. B.; Ferrero, G. B.; Baldassarre, G.; Agnoletti, G.; Banaudi, E.; Marek, J.; Kaski, J. P.; Tuo, G.; Marasini, M.; Cairello, F.; Madrigali, A.; Pacileo, G.; Russo, M. G.; Milanesi, O.; Formigari, R.; Brighenti, M.; Ragni, L.; Donti, A.; Drago, F.; Dallapiccola, B.; Tartaglia, M.; Marino, B.; Versacci, P. - 01a Articolo in rivista

rivista: BIRTH DEFECTS RESEARCH (Hoboken N.J.: John Wiley & Sons Inc.) pp. 725-731 - issn: 2472-1727 - wos: WOS:000542696200004 (17) - scopus: 2-s2.0-85086579325 (16)

11573/1486440 - 2020 - Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Cleynen, I.; Engchuan, W.; Hestand, M. S.; Heung, T.; Holleman, A. M.; Johnston, H. R.; Monfeuga, T.; Mcdonald-Mcginn, D. M.; Gur, R. E.; Morrow, B. E.; Swillen, A.; Vorstman, J. A. S.; Bearden, C. E.; Chow, E. W. C.; Van Den Bree, M.; Emanuel, B. S.; Vermeesch, J. R.; Warren, S. T.; Owen, M. J.; Chopra, P.; Cutler, D. J.; Duncan, R.; Kotlar, A. V.; Mulle, J. G.; Voss, A. J.; Zwick, M. E.; Diacou, A.; Golden, A.; Guo, T.; Lin, J. -R.; Wang, T.; Zhang, Z.; Zhao, Y.; Marshall, C.; Merico, D.; Jin, A.; Lilley, B.; Salmons, H. I.; Tran, O.; Holmans, P.; Pardinas, A.; Walters, J. T. R.; Demaerel, W.; Boot, E.; Butcher, N. J.; Costain, G. A.; Lowther, C.; Evers, R.; Van Amelsvoort, T. A. M. J.; Van Duin, E.; Vingerhoets, C.; Breckpot, J.; Devriendt, K.; Vergaelen, E.; Vogels, A.; Crowley, T. B.; Mcginn, D. E.; Moss, E. M.; Sharkus, R. J.; Unolt, M.; Zackai, E. H.; Calkins, M. E.; Gallagher, R. S.; Gur, R. C.; Tang, S. X.; Fritsch, R.; Ornstein, C.; Repetto, G. M.; Breetvelt, E.; Duijff, S. N.; Fiksinski, A.; Moss, H.; Niarchou, M.; Murphy, K. C.; Prasad, S. E.; Daly, E. M.; Gudbrandsen, M.; Murphy, C. M.; Murphy, D. G.; Buzzanca, A.; Fabio, F. D.; Digilio, M. C.; Pontillo, M.; Marino, B.; Vicari, S.; Coleman, K.; Cubells, J. F.; Ousley, O. Y.; Carmel, M.; Gothelf, D.; Mekori-Domachevsky, E.; Michaelovsky, E.; Weinberger, R.; Weizman, A.; Kushan, L.; Jalbrzikowski, M.; Armando, M.; Eliez, S.; Sandini, C.; Schneider, M.; Bena, F. S.; Antshel, K. M.; Fremont, W.; Kates, W. R.; Belzeaux, R.; Busa, T.; Philip, N.; Campbell, L. E.; Mccabe, K. L.; Hooper, S. R.; Schoch, K.; Shashi, V.; Simon, T. J.; Tassone, F.; Arango, C.; Fraguas, D.; Garcia-Minaur, S.; Morey-Canyelles, J.; Rosell, J.; Suner, D. H.; Raventos-Simic, J.; Epstein, M. P.; Williams, N. M.; Bassett, A. S. - 01a Articolo in rivista

rivista: MOLECULAR PSYCHIATRY (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. - - issn: 1359-4184 - wos: WOS:000510821800003 (61) - scopus: 2-s2.0-85079175539 (70)

11573/1462070 - 2020 - Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

Fanella, M.; Frascarelli, M.; Lambiase, C.; Morano, A.; Unolt, M.; Liberati, N.; Fattouch, J.; Buzzanca, A.; Accinni, T.; Ceccanti, Marco; Vigano, Alessandro; Biondi, M.; Colonnese, C.; Giallonardo, A. T.; Di Fabio, Fabio; Pizzuti, A.; Di Bonaventura, C.; Berardelli, A. - 01a Articolo in rivista

rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 151-159-159 - issn: 0022-2593 - wos: WOS:000518193900002 (8) - scopus: 2-s2.0-85072190295 (8)

11573/1496048 - 2020 - Left ventricular (LV) pacing in newborns and infants. Echo assessment of LV systolic function and synchrony at 5-year follow-up

Silvetti, M. S.; Muzi, G.; Unolt, M.; D'anna, C.; Saputo, F. A.; Di Mambro, C.; Albanese, S.; Ammirati, A.; Rava, L.; Drago, F. - 01a Articolo in rivista

rivista: PACING AND CLINICAL ELECTROPHYSIOLOGY (Blackwell Publishing Limited:9600 Garsington Road, Oxford OX4 2DQ United Kingdom:011 44 1865 776868 , (781)388-8200, EMAIL: agentservices@oxon.blackwellpublishing.com, e-help@blackwellpublishers.co.uk, INTERNET: http://www.blackwellpublishing.com, Fax: 011 44 1865 714591) pp. 535-541 - issn: 0147-8389 - wos: WOS:000527330300001 (9) - scopus: 2-s2.0-85083765836 (8)

11573/1474798 - 2020 - Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Zhao, Y.; Diacou, A.; Johnston, H. R.; Musfee, F. I.; Mcdonald-Mcginn, D. M.; Mcginn, D.; Crowley, T. B.; Repetto, G. M.; Swillen, A.; Breckpot, J.; Vermeesch, J. R.; Kates, W. R.; Digilio, M. C.; Unolt, M.; Marino, B.; Pontillo, M.; Armando, M.; Di Fabio, Fabio; Vicari, S.; Van Den Bree, M.; Moss, H.; Owen, M. J.; Murphy, K. C.; Murphy, C. M.; Murphy, D.; Schoch, K.; Shashi, V.; Tassone, F.; Simon, T. J.; Shprintzen, R. J.; Campbell, L.; Philip, N.; Heine-Suner, D.; Garcia-Minaur, S.; Fernandez, L.; Antonarakis, S. E.; Biondi, M.; Boot, E.; Breetvelt, E.; Busa, T.; Butcher, N.; Buzzanca, A.; Carmel, M.; Cleynen, I.; Cutler, D.; Dallapiccola, B.; De La Fuente Sanches, M. A.; Epstein, M. P.; Evers, R.; Fernandez, L.; Fritsch, R.; Algas, F. G.; Guo, T.; Gur, R.; Hestand, M. S.; Heung, T.; Hooper, S.; Jin, A.; Kushan-Wells, L.; Laorden-Nieto, A. T.; Lattanzi, G.; Marshall, C.; Mccabe, K.; Michaelovsky, E.; Ornstein, C.; Silversides, C.; Tran, O.; Van Duin, E. D. A.; Vergaelen, E.; Warren, S. T.; Weinberger, R.; Weizman, A.; Zhang, Z.; Zwick, M.; Bearden, C. E.; Vingerhoets, C.; Van Amelsvoort, T.; Eliez, S.; Schneider, M.; Vorstman, J. A. S.; Gothelf, D.; Zackai, E.; Agopian, A. J.; Gur, R. E.; Bassett, A. S.; Emanuel, B. S.; Goldmuntz, E.; Mitchell, L. E.; Wang, T.; Morrow, B. E. - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 26-40 - issn: 0002-9297 - wos: WOS:000505170800003 (34) - scopus: 2-s2.0-85077046877 (41)

11573/1260652 - 2019 - Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Mastromoro, Gioia; Calcagni, Giulio; Versacci, Paolo; Putotto, Carolina; Chinali, Marcello; Lambiase, Caterina; Unolt, Marta; Pelliccione, Elena; Anaclerio, Silvia; Caprio, Cinzia; Cioffi, Sara; Bilio, Marchesa; Baban, Anwar; Drago, Fabrizio; Cristina Digilio, Maria; Marino Taussig De Bodonia, Bruno; Baldini, Antonio - 01a Articolo in rivista

rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. - - issn: 1932-6203 - wos: WOS:000462867000004 (10) - scopus: 2-s2.0-85063658968 (12)

11573/1344396 - 2019 - Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Unolt, M.; Kammoun, M.; Nowakowska, B.; Graham, G. E.; Crowley, T. B.; Hestand, M. S.; Demaerel, W.; Geremek, M.; Emanuel, B. S.; Zackai, E. H.; Vermeesch, J. R.; Mcdonald-Mcginn, D. - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Baltimore MD: Williams & Wilkins) pp. - - issn: 1098-3600 - wos: WOS:000510866200011 (8) - scopus: 2-s2.0-85071488378 (7)

11573/1278929 - 2018 - Impact of genetic studies on comprehension and treatment of congenital heart disease

Alicandro, Tatiana; Putotto, Carolina; Calcagni, Giulio; Unolt, Marta; Mastromoro, Gioia; Digilio, Maria Cristina; Versacci, Paolo; Marino, Bruno - 01a Articolo in rivista

rivista: PROGRESS IN PEDIATRIC CARDIOLOGY (Reading, MA : Andover Medical Publishers, c1992-) pp. 31-36 - issn: 1058-9813 - wos: WOS:000451752200006 (0) - scopus: 2-s2.0-85056477576 (1)

11573/1344400 - 2018 - What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

Campbell, I. M.; Sheppard, S. E.; Crowley, T. B.; Mcginn, D. E.; Bailey, A.; Mcginn, M. J.; Unolt, M.; Homans, J. F.; Chen, E. Y.; Salmons, H. I.; Gaynor, J. W.; Goldmuntz, E.; Jackson, O. A.; Katz, L. E.; Mascarenhas, M. R.; Deeney, V. F. X.; Castelein, R. M.; Zur, K. B.; Elden, L.; Kallish, S.; Kolon, T. F.; Hopkins, S. E.; Chadehumbe, M. A.; Lambert, M. P.; Forbes, B. J.; Moldenhauer, J. S.; Schindewolf, E. M.; Solot, C. B.; Moss, E. M.; Gur, R. E.; Sullivan, K. E.; Emanuel, B. S.; Zackai, E. H.; Mcdonald-Mcginn, D. M. - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2058-2069 - issn: 1552-4825 - wos: WOS:000449718500005 (46) - scopus: 2-s2.0-85055795508 (50)

11573/1344410 - 2018 - 22q and two: 22q11.2 deletion syndrome and coexisting conditions

Cohen, J. L.; Crowley, T. B.; Mcginn, D. E.; Mcdougall, C.; Unolt, M.; Lambert, M. P.; Emanuel, B. S.; Zackai, E. H.; Mcdonald-Mcginn, D. M. - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2203-2214 - issn: 1552-4825 - wos: WOS:000449718500021 (13) - scopus: 2-s2.0-85053691570 (15)

11573/1266549 - 2018 - Use of a pediatric syncope unit improves diagnosis and lowers costs: a hospital-based experience

Drago, Fabrizio; Calvieri, Camilla; Placidi, Silvia; Righi, Daniela; Paglia, Simone; Del Vecchio, Elisa; Silvetti, Massimo Stefano; Gimigliano, Fabrizio; Di Mambro, Corrado; Unolt, Marta; Giordano, Ugo; Raucci, Umberto; Raponi, Massimiliano - 01a Articolo in rivista

rivista: THE JOURNAL OF PEDIATRICS (New York NY: Elsevier St. Louis Mo.: C.V. Mosby) pp. 184-189.e2 - issn: 0022-3476 - wos: WOS:000445139100034 (3) - scopus: 2-s2.0-85049069957 (4)

11573/1195893 - 2018 - Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W.; Belasco, Jean B.; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H.; Mcdonald-Mcginn, Donna M. - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 411-415 - issn: 1769-7212 - wos: WOS:000434478700010 (3) - scopus: 2-s2.0-85041921550 (3)

11573/1119509 - 2018 - Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

Unolt, Marta; Versacci, Paolo; Anaclerio, Silvia; Lambiase, Caterina; Calcagni, Giulio; Trezzi, Matteo; Carotti, Adriano; Crowley, Terrence Blaine; Zackai, Elaine H.; Goldmuntz, Elizabeth; Gaynor, James William; Digilio, Maria Cristina; Mcdonald-Mcginn, Donna M.; Marino, Bruno - 01g Articolo di rassegna (Review)

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2087-2098 - issn: 1552-4825 - wos: WOS:000449718500008 (37) - scopus: 2-s2.0-85045704286 (46)

11573/1119505 - 2018 - Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

Versacci, Paolo; Pugnaloni, Flaminia; Digilio, Maria Cristina; Putotto, Carolina; Unolt, Marta; Calcagni, Giulio; Baban, Anwar; Marino, Bruno - 01a Articolo in rivista

rivista: JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (Basel : MDPI AG, 2014-) pp. 24- - issn: 2308-3425 - wos: WOS:000455161100006 (13) - scopus: 2-s2.0-85056738425 (13)

11573/963752 - 2017 - Factors that negatively affect the prognosis of pediatric community-acquired pneumonia in district hospital in Tanzania

Caggiano, Serena; Ullmann, Nicola; De Vitis, Elisa; Trivelli, Marzia; Mariani, Chiara; Podagrosi, Maria; Ursitti, Fabiana; Bertolaso, Chiara; Putotto, Carolina; Unolt, Marta; Pietravalle, Andrea; Pansa, Paola; Mphayokulela, Kajoro; Lemmo, Maria Incoronata; Mkwambe, Michael; Kazaura, Joseph; Duse, Marzia; Nieddu, Francesco; Azzari, Chiara; Cutrera, Renato - 01a Articolo in rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. - - issn: 1661-6596 - wos: WOS:000396253700152 (13) - scopus: 2-s2.0-85015269847 (17)

11573/1119513 - 2017 - Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

Calcagni, Giulio; Unolt, Marta; Digilio, Maria Cristina; Baban, Anwar; Versacci, Paolo; Tartaglia, Marco; Baldini, Antonio; Marino, Bruno - 01g Articolo di rassegna (Review)

rivista: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (--London, United Kingdom: Expert Reviews Ltd -London : Future Drugs, 2001-) pp. 861-870 - issn: 1473-7159 - wos: WOS:000422748900007 (37) - scopus: 2-s2.0-85027331602 (38)

11573/973585 - 2016 - Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

Radio, Francesca Clementina; Digilio, Maria Cristina; Capolino, Rossella; Dentici, Maria Lisa; Unolt, Marta; Alesi, Viola; Novelli, Antonio; Marino Taussig De Bodonia, Bruno; Dallapiccola, Bruno - 01i Case report

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 661-664 - issn: 1552-4825 - wos: WOS:000373098900016 (1) - scopus: 2-s2.0-84959526468 (4)

11573/1343161 - 2013 - Double-outlet left ventricle with l-malposition of the great arteries and subpulmonary ventricular septal defect

Putotto, C.; Unolt, M.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: PEDIATRIC CARDIOLOGY (Springer-Verlag New York Incorporated:175 Fifth Avenue:New York, NY 10010:(212)460-1500, EMAIL: orders@springer-ny.com, INTERNET: http://www.springer-ny.com, Fax: (212)533-3503) pp. 1521-1521 - issn: 0172-0643 - wos: WOS:000321919400035 (1) - scopus: 2-s2.0-84880820447 (0)

11573/1343169 - 2013 - Aortic arch interruption without ductus arteriosus and no ventricular septal defect

Putotto, C.; Unolt, M.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY (New York: Elsevier Orlando, FL: Mosby Year Book) pp. 311-311 - issn: 0022-5223 - wos: WOS:000312386300061 (1) - scopus: 2-s2.0-84871247813 (2)

11573/1343171 - 2013 - Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies

Putotto, C.; Unolt, M.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 123-123 - issn: 1769-7212 - wos: WOS:000314627900010 (0) - scopus: 2-s2.0-84873170638 (0)

11573/759244 - 2013 - Congenital heart diseases in women

Putotto, C; Unolt, M; Caiaro, A; Marino Taussig De Bodonia, Bruno; Massaccesi, V; Digilio, Mc - 01g Articolo di rassegna (Review)

rivista: GIORNALE ITALIANO DI CARDIOLOGIA (ROMA: Il Pensiero Scientifico Roma : C.E.P.I. Centro editoriale pubblicitario italiano) pp. 120-125 - issn: 1972-6481 - wos: (0) - scopus: 2-s2.0-84874778783 (1)

11573/759250 - 2013 - Double outlet right ventricle versus aortic dextroposition: morphologically distinct defects

Restivo, A; Unolt, M; Putotto, C; Marino Taussig De Bodonia, Bruno - 01b Commento, Erratum, Replica e simili

rivista: THE ANATOMICAL RECORD (Hoboken, NJ : John Wiley & Sons, 2007-) pp. 559-563 - issn: 1932-8486 - wos: WOS:000316331300003 (6) - scopus: 2-s2.0-84883178493 (7)

11573/1343167 - 2013 - Double-orifice left atrioventricular valve in patients with atrioventricular septal defect with and without down syndrome

Unolt, M.; Putotto, C.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: ANNALS OF THORACIC SURGERY ([Boston etc.]: [Little Brown & Co. etc.]) pp. 1843-1844 - issn: 0003-4975 - wos: WOS:000318969500094 (1) - scopus: 2-s2.0-84876534760 (1)

11573/541421 - 2013 - Transposition of great arteries: new insights into the pathogenesis.

Unolt, Marta; Putotto, Carolina; Silvestri, L. M.; Marino, D.; Scarabotti, A.; Massaccesi, Valerio; Caiaro, Angela; Versacci, P.; Marino Taussig De Bodonia, Bruno - 01a Articolo in rivista

rivista: FRONTIERS IN PEDIATRICS (Lausanne : Frontiers Media S.A., 2013-) pp. 11- - issn: 2296-2360 - wos: WOS:000209895600011 (59) - scopus: 2-s2.0-84905174782 (73)

11573/1343163 - 2012 - Atrioventricular septal defect prognosis for patients with down syndrome

Unolt, M.; Putotto, C.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: PEDIATRIC CARDIOLOGY (Springer-Verlag New York Incorporated:175 Fifth Avenue:New York, NY 10010:(212)460-1500, EMAIL: orders@springer-ny.com, INTERNET: http://www.springer-ny.com, Fax: (212)533-3503) pp. 1476-1476 - issn: 0172-0643 - wos: WOS:000311792000044 (2) - scopus: 2-s2.0-84878248607 (2)

11573/1343165 - 2012 - Congenital heart disease, genetic syndromes, and major noncardiac malformations

Unolt, M.; Putotto, C.; Marino, D. - 01b Commento, Erratum, Replica e simili

rivista: EUROPEAN JOURNAL OF PEDIATRICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1861-1861 - issn: 0340-6199 - wos: WOS:000311779700021 (1) - scopus: 2-s2.0-84879137745 (1)