Zobrazeno 1 - 10
of 638
pro vyhledávání: '"DIGILIO MC"'
Autor:
Sparascio, Fp, Digilio, Mc, Palencia-Campos, A, Torrente, I, Guida, V, Rosati, J, D'Anzi, A, Briuglia, S, Versacci, P, Dallapiccola, B, Ruiz-Perez, V, Marino, B, De Luca, A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::e08206ce2aa86f8b0d34b3850de86abe
http://hdl.handle.net/11570/3164116
http://hdl.handle.net/11570/3164116
Autor:
Guo, T, Repetto, GM, McDonald McGinn, DM, Chung, JH, Nomaru, H, Campbell, CL, Blonska, A, Bassett, AS, Chow, EWC, Mlynarski, EE, Swillen, A, Vermeesch, J, Devriendt, K, Gothelf, D, Carmel, M, Michaelovsky, E, Schneider, M, Eliez, S, Antonarakis, SE, Coleman, K, Tomita-Mitchell, A, Mitchell, ME, Digilio, MC, Dallapiccola, B, Marino, B, Philip, N, Busa, T, Kushan-Wells, L, Bearden, CE, Piotrowicz, M, Hawuła, W, Roberts, AE, Tassone, F, Simon, TJ, Van Duin, EDA, Van Amelsvoort, TA, Kates, WR, Zackai, E, Johnston, HR, Cutler, DJ, Agopian, AJ, Goldmuntz, E, Mitchell, LE, Wang, T, Emanuel, BS, Morrow, BE
Publikováno v:
Guo, T; Repetto, GM; McDonald McGinn, DM; Chung, JH; Nomaru, H; Campbell, CL; et al.(2017). Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation: Cardiovascular Genetics, 10(5). doi: 10.1161/CIRCGENETICS.116.001690. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/7hp1507k
© 2017 The Authors. Background - The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::e7bc9daed0c704ea95eb91352a5daaf0
http://www.escholarship.org/uc/item/7hp1507k
http://www.escholarship.org/uc/item/7hp1507k
Autor:
Novelli, A, Sabani, M, Caiola, A, Digilio, MC, Giannotti, A, Mingarelli, R, Novelli, G, Dallapiccola, B
Publikováno v:
In Molecular and Cellular Probes August 1999 13(4):303-307
Autor:
LIMONGELLI, Giuseppe, CALABRO', Paolo, CALABRO', Raffaele, Pacileo G, Melis D, Digilio MC, Sarkozy A, Maddaloni V, Capozzi G, Sebastio G, Andria G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::d3ae844ec304966c8b029b708510b516
http://hdl.handle.net/11591/231419
http://hdl.handle.net/11591/231419
Autor:
LIMONGELLI, Giuseppe, Pacileo G, Digilio MC, Sarkozy A, CALABRO', Paolo, DI SALVO, Giovanni, Maddaloni V, Gagliardi G, Miele T, Marino B, R. Dallapiccola B, Calabro’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::32ad81f78688b2d9b1b2b9e60b44eeb2
http://hdl.handle.net/11591/222159
http://hdl.handle.net/11591/222159
Autor:
Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian CBCD Study Group, Bertini, E, Dallapiccola, B, Collaborators: Arrigoni F, Valente E. M., Borgatti, R, Romaniello, R, Accorsi, P, Fazzi, E, Giordano, L, Pinelli, L, Biancheri, R, Mirabelli, M, Rossi, A, Briguglio, M, Tortorella, G, Chiapparini, L, D' Arrigo, S, Moroni, I, Pantaleoni, C, Spaccini, L, Uziel, G, D' Amico, A, Del Giudice, E, Pichiecchio, A, Signorini, S, Battini, R, Casarani, M, Colafati, S, Digilio, Mc, Leuzzi, V, Micalizzi, A, Romani, M, Spalice, A, Vitiello, G, Cirillo, Margherita, Simonati, A.
Publikováno v:
Orphanet Journal of Rare Diseases
Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fc1fc1fa54682b218efb44831a42fa
http://hdl.handle.net/11568/951360
http://hdl.handle.net/11568/951360
Autor:
Digilio, Mc, Bernardini, L, Gagliardi, Mg, Versacci, P, Baban, A, Capolino, R, Dentici, Ml, Roberti, Mc, Angioni, A, Novelli, A, MARINO TAUSSIG DE BODONIA, Bruno, DALLA PICCOLA, Bruno
Publikováno v:
Clinical genetics. 84(4)
Non-compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses. Associated extracardiac anomalies occur in 14-66% of patients of different series, while chromos