Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Chiara Perria"'
Autor:
Valentina Pes, Manuela Oppo, Stefano Sotgiu, Chiara Perria, Rossano Atzeni, Gianmauro Cuccuru, Andrea Angius, Paolo Uva, Gigliola Serra, Laura Crisponi, Stefano Onano, Stefania Olla, Ivana Persico, Francesco Cucca, Raoul C.M. Hennekam
Publikováno v:
American Journal of Medical Genetics, Part A, 179(4), 634-638. Wiley-Liss Inc.
American journal of medical genetics. Part A, 179(4), 634-638. Wiley-Liss Inc.
American journal of medical genetics. Part A, 179(4), 634-638. Wiley-Liss Inc.
We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ebbebcbe1c7a5a1879d2cb09db82e3
https://research.vumc.nl/en/publications/cd0991b8-eddb-40fa-adab-d5bcd67ac786
https://research.vumc.nl/en/publications/cd0991b8-eddb-40fa-adab-d5bcd67ac786
Autor:
Beate Albrecht, Mandy Krumbiegel, Diana Postorivo, Agatino Battaglia, Laura Bernardini, Valentina Parisi, Barbara Torres, Gioacchino Scarano, Fortunato Lonardo, Antonio Novelli, Annamaria Nardone, Valentina Guida, Paolo Fontana, Francesco Brancati, Silvia Lanciotti, Alessandra Splendiani, Malte Spielmann, Chiara Perria, Valérie Malan, Francesco Garaci, Judith Koetting, Geneviève Baujat, Jasmin Beygo, Hermann-Josef Lüdecke, Alma Kuechler, Lorenzo Sinibaldi
Publikováno v:
Clinical genetics. 96(3)
Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains d
Autor:
Chiara Perria, Italia Loddo, Marco Seri, Milena Crippa, Stefano Sotgiu, Maria Piccione, Marina Frontali, Lidia Larizza, Elisa Biamino, Palma Finelli, Pamela Magini, Maria Chiara Gandini, Elisa Colombo, Gloria Negri, Antonella Boni, Donatella Milani, Tommaso Pippucci, Michael J. Bamshad, Deborah A. Nickerson, Joshua D. Smith, Elisabetta Di Fede, Cristina Gervasini, Giuseppina Vitiello
Publikováno v:
Human genetics (Berl., Internet) 138 (2019). doi:10.1007/s00439-019-01985-y
info:cnr-pdr/source/autori:Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C./titolo:Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders/doi:10.1007%2Fs00439-019-01985-y/rivista:Human genetics (Berl., Internet)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:138
info:cnr-pdr/source/autori:Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C./titolo:Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders/doi:10.1007%2Fs00439-019-01985-y/rivista:Human genetics (Berl., Internet)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:138
Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutati
Autor:
Laura Deroma, Chiara Perria, Silvia Linari, Bruno Bembi, Annalisa Sechi, Andrea Dardis, Daniela Concolino, Nicole Bertin, Giovanni Ciana
Publikováno v:
Molecular genetics and metabolism. 113(3)
Background The chronic neuropathic form of Gaucher disease (GD3) is characterised by hepatosplenomegaly, anaemia, thrombocytopenia, bone alterations and central neurological involvement. Enzyme replacement therapy (ERT) has been demonstrated to be ef
Autor:
Gioacchino Scarano, Alessandra Ferlini, Gigliola Serra, Maria Teresa Pellico, Bartolomeo Augello, Loredana Boccone, Lucia Micale, Federica Zucchetti, Angelo Selicorni, Livia Garavelli, Leopoldo Zelante, Elisabetta Lapi, Alessandra Vancini, Giuseppe Merla, Alba Pilotta, Laura Mazzanti, Leonardo Salviati, Carmela Fusco, Francesca Faravelli, Maria Grazia Patricelli, Daniela Melis, Stefano Sotgiu, Maria Luigia Cavaliere, Matteo Della Monica, Claudia Maffeo, Chiara Perria, Francesco Benedicenti, Paolo Prontera, Eliana Di Battista, Maria Francesca Bedeschi, Benedetta Toschi, Pasquelena De Nittis, Elisa Biamino, Rita Fischetto, Pietro Chiurazzi, Paola Ferrari, Barbara Mandriani, Marcella Neri, Margherita Silengo
Publikováno v:
Human Mutation
Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. In this study, we performed a mutationa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc53ee15177b6d7986b6a86a5d352a0
http://hdl.handle.net/11577/2833510
http://hdl.handle.net/11577/2833510
Autor:
Anna Maria Nardone, Chiara Perria, Silvia Pusceddu, Giuseppe Barrano, Barbara Torres, Gigliola Serra, Antonio Novelli, Viola Alesi, Marta Bertoli, Myriam Pastorino
Publikováno v:
Gene. 505(2)
About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR). We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech del