Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Gigliola Serra"'
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:
E. Deriu, A. Achene, M. Pastorino, Gianni Tusacciu, Maurizio Conti, Massimo Tondi, Gigliola Serra
Publikováno v:
Rivista di Neuroradiologia. 16:485-488
We describe a 12-year-old boy with a diagnosis of familial NF1. Brain MR scan performed for right pyramidal hemiparesis disclosed a vascular dysplasia causing stenosis of the intracranial portion of the right internal carotid artery and compensatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c8e2ddf4571151e4035b2f08bb5e9fb
https://doi.org/10.1177/197140090301600329
https://doi.org/10.1177/197140090301600329
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:
Roberto Cerone, Gigliola Serra, Pierre Rustin, Corrado Romano, W. Bonacci, JM Saudubray, Ubaldo Caruso, A Munnich, Massimo Mazzella
Publikováno v:
Acta Paediatrica. 86:326-329
We report a newborn admitted to our service on the 2nd day of life because of hypotonia and metabolic acidosis. A progressive hepatocellular dysfunction dominated the clinical picture and the patient died at 13 months of age because of severe hepatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9feefd861733a511b666b1529772ef12
https://doi.org/10.1111/j.1651-2227.1997.tb08901.x
https://doi.org/10.1111/j.1651-2227.1997.tb08901.x
Autor:
Massimo Zeviani, Camillo Mastropaolo, Francesco Muntoni, Rosa Piccinnu, Massimo Tondi, Gigliola Serra
Publikováno v:
Brain and Development. 18:185-191
A study of mitochondrial DNA disease was carried out on 12 members belonging to three generations of a family from northern Sardinia. On the basis of the diagnostic criteria currently used in the classification of mitochondrial diseases a typical MER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14eccfcd9e82af15d48b786892cb8a6c
https://doi.org/10.1016/0387-7604(95)00147-6
https://doi.org/10.1016/0387-7604(95)00147-6
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f521e383f4aec69cd69398982ce20ccd
https://pubmed.ncbi.nlm.nih.gov/22634100
https://pubmed.ncbi.nlm.nih.gov/22634100
Autor:
Gigliola Serra, Fausto Pier'Angelo Poddie, G. Soro, Maria Antonietta Serafina Moro, Emanuela Maserati, Vittorio Mazzarello, Giuseppina Sanna, Andrea Montella, F. Cambosu, Pasquale Bandiera, Gianni Tusacciu, Giuseppa Fogu
Publikováno v:
European journal of medical genetics. 51(4)
We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c08f1d4e1c433bccb3712c336b4793
https://pubmed.ncbi.nlm.nih.gov/18495567
https://pubmed.ncbi.nlm.nih.gov/18495567
Publikováno v:
American journal of medical genetics. Part A. (2)
This study, combined with the previously reported c.634+1G >T mutation [Agrawal et al., 2005] reveal that exon 6 skipping of PTEN gene produces two different phenotypes of CS and BRRS associated with posterior subcapsular congenital cataract. These d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc5bc7d0c51914b1a67f91d2d72294b
https://pubmed.ncbi.nlm.nih.gov/18080326
https://pubmed.ncbi.nlm.nih.gov/18080326
Autor:
Camillo Mastropaolo, Romeo Carrozzo, Gigliola Serra, Mirella Filocamo, Rosanna Gatti, Stefano Regis
Publikováno v:
Human Genetics. 96:233-235
A metachromatic leukodystrophy (MLD) patient affected with the late infantile form was found to be homozygous for an AT-deletion (2324delAT) in the arylsulfatase A gene. The mutation causes a frameshift at the beginning of exon 8 leading to an early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7b32670feb1f2c49d1cc1816fba5c7a
https://doi.org/10.1007/bf00207387
https://doi.org/10.1007/bf00207387
Autor:
Marvin N. Schwalb, Sun Rong, Claudia Specchia, Camillo Mastropaolo, Gigliola Serra, Salvatorica Manca, Luisa Demelas, Andrea Angius, Daniela Paglietti, Mariano Rocchi, Emilia Vitale, Marcella Devoto
Publikováno v:
American journal of medical genetics
info:cnr-pdr/source/autori:E. Vitale, C. Specchia, M. Devoto, A. Angius, S. Rong, K. Subramanian, M. Rocchi, M. Schwalb, L. Demelas, D. Paglietti, S. Manca, C. Mastropaolo, G. Serra./titolo:Novel X-Linked mental retardation syndrome with short stature maps to Xq24./doi:10.1002%2Fajmg.1495/rivista:American journal of medical genetics (Print)/anno:2001/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume:103
info:cnr-pdr/source/autori:E. Vitale, C. Specchia, M. Devoto, A. Angius, S. Rong, K. Subramanian, M. Rocchi, M. Schwalb, L. Demelas, D. Paglietti, S. Manca, C. Mastropaolo, G. Serra./titolo:Novel X-Linked mental retardation syndrome with short stature maps to Xq24./doi:10.1002%2Fajmg.1495/rivista:American journal of medical genetics (Print)/anno:2001/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume:103
We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3da3e1a96b7acae16b42a840c6f876
https://pubmed.ncbi.nlm.nih.gov/11562927
https://pubmed.ncbi.nlm.nih.gov/11562927