Zobrazeno 1 - 10
of 1 669
pro vyhledávání: '"Dallapiccola Bruno"'
Autor:
Krajewska-Walasek Malgorzata, Devriendt Koenraad, Donnai Dian, Dallapiccola Bruno, Brunner Han, Metcalfe Kay, Bronwyn Kerr, Harrison Caroline, Day Ruth, Gardner Sara, Strong Kate, Griffiths Pam, Philip Nicole, Clayton-Smith Jill
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 5, Iss Suppl 1, p P20 (2010)
Externí odkaz:
https://doaj.org/article/098d4e8badae42dca026d2bbcc9909ce
Autor:
Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 38 (2011)
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies
Externí odkaz:
https://doaj.org/article/0b2ee9ff991e432f83dbcfe6be467e71
Autor:
Dallapiccola Bruno, Digilio Maria
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 25 (2010)
Abstract Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now
Externí odkaz:
https://doaj.org/article/6dc19858841643dc9c2839b2a526bd75
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 20 (2010)
Abstract Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible o
Externí odkaz:
https://doaj.org/article/e4d4100c341a453989939066c692cdbd
Publikováno v:
Italian Journal of Pediatrics, Vol 36, Iss 1, p 22 (2010)
Externí odkaz:
https://doaj.org/article/4fc72277fce54ae0889684ba60f2b9bd
Autor:
Novelli Antonio, Fedele Luigi, Divizia Maria, Barbano Giancarlo, Frontino Giada, Baban Anwar, Carella Massimo, Gervasini Cristina, Gimelli Stefania, Bernardini Laura, Béna Frédérique, Lalatta Faustina, Miozzo Monica, Dallapiccola Bruno
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 4, Iss 1, p 25 (2009)
Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malform
Externí odkaz:
https://doaj.org/article/2b02e0f977184a719a7f8b9bdca24d91
Autor:
Godono, Alessandro, Ciocan, Catalina, Clari, Marco, Mansour, Ihab, Curoso, Giuliano, Franceschi, Andrea, Carena, Elisa, De Pasquale, Vittoria, Dimonte, Valerio, Pira, Enrico, Dallapiccola, Bruno, Normanno, Nicola, Boffetta, Paolo
Publikováno v:
In International Journal of Hygiene and Environmental Health September 2023 254
Autor:
Gerosolimo Germano, Dallapiccola Bruno, Bruni Roberto, Ferraris Alessandro, Tataseo Paola, Tritarelli Elena, Marcantonio Cinzia, Ciccaglione Anna, Costantino Angela, Rapicetta Maria
Publikováno v:
BMC Genomics, Vol 9, Iss 1, p 309 (2008)
Abstract Background Hepatitis C virus (HCV) RNA synthesis and protein expression affect cell homeostasis by modulation of gene expression. The impact of HCV replication on global cell transcription has not been fully evaluated. Thus, we analysed the
Externí odkaz:
https://doaj.org/article/0be5da5459fc4c2ba4fd309ac40ce833
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p 13 (2008)
Abstract LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, E
Externí odkaz:
https://doaj.org/article/fd8549e804a04990950a3101b3c9251c
Autor:
Calvieri Stefano, Torrente Isabella, Guida Valentina, Schirinzi Annalisa, De Luca Alessandro, Bottillo Irene, Gervasini Cristina, Larizza Lidia, Pizzuti Antonio, Dallapiccola Bruno
Publikováno v:
BMC Medical Genetics, Vol 8, Iss 1, p 4 (2007)
Abstract Background Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing. Methods In
Externí odkaz:
https://doaj.org/article/dad1405eab304167adbde88bf7fe8172