Zobrazeno 1 - 10
of 28
pro vyhledávání: '"L Sorasio"'
Autor:
Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino
Publikováno v:
Clinical Genetics. 92:415-422
Background Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). Aims Identification of genomic disorders in DD/ID. Ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4
https://doi.org/10.1111/cge.13009
https://doi.org/10.1111/cge.13009
Autor:
Margherita Silengo, Vaclava Curtisova, Rita Fischetto, Silvia Spena, Chiara Picinelli, Angelo Selicorni, Leonardo Salviati, Cristina Gervasini, Lidia Larizza, Patrizia Colapietro, Gabriela Stangoni, Cinzia Magnani, Maria Luigia Cavaliere, Maria Piccione, Donatella Milani, Paolo Prontera, L Sorasio, Daniela Rusconi, Gloria Negri, Elisa Biamino, Paolo Gasparini, Giovanni Battista Ferrero, Palma Finelli
Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the CREBBP (~55% of cases) an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52466b1934307335cc2127c2033bfa45
http://hdl.handle.net/2318/1615198
http://hdl.handle.net/2318/1615198
Autor:
L Sorasio, E Belligni, Claudio Martano, Irma Dianzani, G. Brunello, Gb Ferrero, Adriana Carando, Emanuela Garelli, M. Cirillo Silengo
Publikováno v:
European Journal of Medical Genetics. 49:520-522
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9f3a2eddcc2ff3c8e0133d2547f219e
https://doi.org/10.1016/j.ejmg.2006.05.003
https://doi.org/10.1016/j.ejmg.2006.05.003
Publikováno v:
Clinical Genetics. 62:270-272
Clinical diagnosis in dysmorphology is made by the recognition of a specific pattern of malformations and through an analytic search for discrete features. We present our personal experience regarding the usefulness of hair morphology as a tool for d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17c7f230731b983ee19d359553ddfcdf
https://doi.org/10.1034/j.1399-0004.2002.620403.x
https://doi.org/10.1034/j.1399-0004.2002.620403.x
Publikováno v:
Clinical and experimental dermatology. 34(8)
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with limb anomalies and orofacial clefting. The TP63 gene has been shown to be the cause of the disease, and some tenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2aec4329d287635a1ed74ada2283e45
https://pubmed.ncbi.nlm.nih.gov/19663851
https://pubmed.ncbi.nlm.nih.gov/19663851
Autor:
Ludovica Verdun di Cantogno, Licia Peruzzi, Elena Banaudi, Margherita Silengo, Elisa Biamino, Giovanni Battista Ferrero, Serena Forzano, L Sorasio
Publikováno v:
European journal of medical genetics. 50(5)
Williams-Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500-1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d7f2dd8138947cc167a27701f15697
https://pubmed.ncbi.nlm.nih.gov/17625998
https://pubmed.ncbi.nlm.nih.gov/17625998
Autor:
Giovanni Battista Ferrero, Francesca Faravelli, Mauro Pierluigi, Margherita Silengo, L Sorasio, Angelo Giovanni Delmonaco, Roberto Oggero, Elga Fabia Belligni
We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai–Barrow syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cdecdb91e013c8a20478475c78a1c7b
http://hdl.handle.net/2318/41314
http://hdl.handle.net/2318/41314
Publikováno v:
Scopus-Elsevier
A new case of the association of the Beckwith-Wiedemann and prune belly syndrome is reported and the aetiology of the syndromes discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04fd51a7c39bc90ca6d4e8b454fe9dea
https://doi.org/10.1097/00019605-200210000-00012
https://doi.org/10.1097/00019605-200210000-00012
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Akademický článek
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