Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Rita Grasso"'
Autor:
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We charac
Externí odkaz:
https://doaj.org/article/5c43355a53914e768e4abdfa928036cf
Autor:
Alessandra Tonelli, Anna Cavallini, M. T. Bassi, Renato Borgatti, Rita Grasso, Nereo Bresolin, Andrea Righini, Romina Romaniello
Publikováno v:
Clinical Genetics. 78:432-440
Infantile neuroaxonal dystrophy, INAD, is a severe progressive psychomotor disorder with infantile onset and characterized by the presence of axonal spheroids throughout the central and peripheral nervous systems. A subset of INAD patients shows also
Autor:
Giorgio Gimelli, Rita Grasso, Orsetta Zuffardi, Roberto Giorda, María Luisa Martínez-Frías, Susan Marelli, Joke B. G. M. Verheij, Stefania Gimelli, Laura Canabal Rodríguez, Maria Clara Bonaglia, Renato Borgatti, Conny M. A. van Ravenswaaij, Roberto Ciccone, Filomena Pagone
Publikováno v:
European Journal of Human Genetics, 16(12), 1443-1449. Nature Publishing Group
Most patients with an interstitial deletion of 6q16 have Prader-Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the chromosome rearrangement was detected by karyotype analysi
Autor:
Susan Marelli, Rita Grasso, Roberto Giorda, Renato Borgatti, Giulietta Gottardi, Tiziano Pramparo, Claudio Zucca, Orsetta Zuffardi, Maria Clara Bonaglia
Publikováno v:
European Journal of Medical Genetics. 50:54-59
The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, par
Autor:
Rio Bianchini, Valentina Postorino, Carmela Tata, Salvatore Migliore, Corrado Burlò, Bartolo Santoro, Luigi Mazzone, Rita Grasso
Attention-deficit/hyperactivity disorder (ADHD) is one of the most common diagnosis for children and adolescents, although the reported estimates for prevalence are extremely variable worldwide. In the present work we investigate the prevalence of AD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09f88719ac7b70e4335f134f77c6310
http://hdl.handle.net/2108/194097
http://hdl.handle.net/2108/194097
Autor:
Antonino Romeo, Renato Borgatti, Lucio Giordano, Maurizio Viri, Silvia Prola, Alberto Verrotti, Francesca Faravelli, Rita Grasso, Maria Chiara Ferretti, Dario Pruna, Monica Lodi, Margherita Santucci, Salvatore Savasta, Luigi Memo, Patrizia Accorsi
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 16(6)
Background and objectives Pallister–Killian syndrome (PKS) is a rare genetic disorder caused by a tissue-limited mosaic supernumerary isochromosome 12p. Typical facial dysmorphisms, pigmentary abnormalities, and some major malformations are frequen
Autor:
Roberto Giorda, Susan Marelli, Santina Reitano, Alfredo Brusco, Renzo Guerrini, Maria Grazia Patricelli, Nieves Martínez Guardia, María Luisa Martínez-Frías, Maria Clara Bonaglia, Stefano D'Arrigo, Donatella Greco, Frédérique Béna, Antonella Cecconi, Sara Osimani, Bernardo Dalla Bernardina, Maria Luisa Martínez-Fernández, Pierluigi Politi, Cristina De Agostini, Elisa Mani, Lucia Grillo, Elisabetta Lapi, Sabrina Giglio, Stefania Bigoni, Francesca Novara, Claudio Zucca, Corrado Romano, Silvana Beri, Renato Borgatti, Rita Grasso, Roberto Ciccone, Marco Fichera, Anna Bremer, Emanuela Priolo, Anna Baroncini, Emanuela Maserati, Irene Bagnasco, Stefania Gimelli, Lucio Nitsch, Cristina Motta, Britt-Marie Anderlid, Ornella Galesi, Annalisa Vetro, Orsetta Zuffardi, Francesca L. Sciacca, Chiara Pantaleoni, Giulia Arrigo, Leonardo Zoccante, Ursula Giussani, Daria Riva, Maria Teresa Bonati, Francesca Darra, Massimo Molteni, Eleonora Di Gregorio, Cristiano Termine, Armand Bottani
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::335360b771b2a49017f302b173240fe2
http://hdl.handle.net/11588/461171
http://hdl.handle.net/11588/461171
Autor:
Raymon Vijzelaar, Leopoldo Zelante, Sheena Nakou, Renske Boschloo, Bert B.A. de Vries, Bruno Dallapiccola, Nelly Georgoudi, Vera Uliana, Angelo Selicorni, Francesco Brancati, Pierre Sarda, Laurent Servais, Ilaria Longo, Rita Grasso, Rossella Tita, Joussef Hayek, Eleni Katzaki, Veronica Parri, Michael B. Petersen, Seema R. Lalani, Francesca Ariani, Francesca Scionti, Christian P. Hamel, Francesca Mari, Rosangela Artuso, Sabrina Buoni, Alessandra Renieri
Cohen syndrome is a rare, clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities and intermittent neutropenia. Mutations in the COH1 gene have been found
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb252055b6ba113feec2709cfae9950
http://hdl.handle.net/11365/21031
http://hdl.handle.net/11365/21031
Autor:
Sebastiano A. Musumeci, Freddie H. Sharkey, Roberto Giorda, Orsetta Zuffardi, Isabella Fiocchi, Bruno Leheup, Luigina Spaccini, M. Clara Bonaglia, Graeme C.M. Black, Massimo Mastrangelo, Elena Fontana, Jill Clayton-Smith, Susan Marelli, Francesca Novara, Daniela Di Benedetto, Marco Seri, Sally Ann Lynch, Emanuela Avola, Claudio Zucca, Paolo Tinuper, Girolamo Aurelio Vitello, Rita Grasso, Marco Fichera, Philippe Jonveaux, Pinella Failla, Silvana Beri, Claudia Torniero, Lucia Castiglia, Bernardo Dalla Bernardina, Pamela Magini, Jill E. Urquhart, Francesca Bisulli, Corrado Romano, Santina Reitano
Publikováno v:
Europe PubMed Central
The American Journal of Human Genetics; Vol 85
The American Journal of Human Genetics; Vol 85
Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic mental retardation (MR) by using whole-genome oligonucleotide-based array comparative genomic h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::432f972a1c690af16aaf3cfd015bac63
https://europepmc.org/articles/PMC2771658/
https://europepmc.org/articles/PMC2771658/
Autor:
Carlo M. Marcelis, Alex Magee, M. De Gregori, F Kooy, Dominique Smeets, B.C.J. Hamel, Maria Clara Bonaglia, L.B.A. de Vries, Francesca Novara, A.M. Aalbers, H.A. van Duyvenvoorde, Han G. Brunner, S. McCullough, B W M van Bon, Rolph Pfundt, Willy M. Nillesen, Sixto García-Miñaur, Orsetta Zuffardi, Elisa Fazzi, Renzo Guerrini, Erik A. Sistermans, N. de Leeuw, Willie Reardon, Liesbeth Rooms, Jan M. Wit, David A. Koolen, Roberto Ciccone, Marcella Zollino, Rita Grasso, Renato Borgatti, Sarina G. Kant
Publikováno v:
Van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, Van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, De Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O & De Vries, B B A 2008, ' Clinical and molecular characteristics of 1qter microdeletion syndrome : Delineating a critical region for corpus callosum agenesis/hypogenesis ', Journal of Medical Genetics, vol. 45, no. 6, pp. 346-354 . https://doi.org/10.1136/jmg.2007.055830
Journal of Medical Genetics, 45, 6, pp. 346-54
Journal of Medical Genetics, 45(6), 346-354. BMJ Publishing Group
Journal of Medical Genetics, 45, 346-54
Journal of medical genetics
Journal of Medical Genetics, 45, 6, pp. 346-54
Journal of Medical Genetics, 45(6), 346-354. BMJ Publishing Group
Journal of Medical Genetics, 45, 346-54
Journal of medical genetics
Contains fulltext : 69539.pdf (Publisher’s version ) (Closed access) BACKGROUND: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8f58faf5a6600803353da96dbf48f8
https://doi.org/10.1136/jmg.2007.055830
https://doi.org/10.1136/jmg.2007.055830