DOCUMENTAZIONE ANALITICA DELLE NECROPOLI DELL'ITALIA MERIDIONALE E DELLA SICILIA (DANIMS): Contributo allo studio delle società antiche

Autor: de La Genière, J., Nenci, G., Niro, M., Lista, M., Ziviello, C., Gualtieri, M., Mc Clintock, W. T., Graf, A. Kustermann

Publikováno v: Annali della Scuola Normale Superiore di Pisa. Classe di Lettere e Filosofia, 1991 Jan 01. 21(1), 1-123.

Externí odkaz: https://www.jstor.org/stable/24306788

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Autor: Estrada-Cuzcano, A., Koenekoop, R.K., Senechal, A., Baere, E.B. De, Ravel, T. de, Banfi, S., Kohl, S., Ayuso, C., Sharon, D., Hoyng, C.B., Hamel, C.P., Leroy, B.P., Ziviello, C., Lopez, I., Bazinet, A., Wissinger, B., Sliesoraityte, I., Avila-Fernandez, A., Littink, K.W., Vingolo, E.M., Signorini, S., Banin, E., Mizrahi-Meissonnier, L., Zrenner, E., Kellner, U., Collin, R.W.J., Hollander, A.I. den, Cremers, F.P.M., Klevering, B.J., Paun, C.C., Pijl, B.J., Siemiatkowska, A.M.

Publikováno v: Archives of Ophthalmology, 130, 11, pp. 1425-32
Archives of Ophthalmology, 130, 1425-32

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 seq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dd85f9111503b2a683822ba3321415c
https://hdl.handle.net/2066/110354

Clinical Genetic Multicentric Study on Leber Congenital Amaurosis: New Insight on Diagnosis and Follow Up

Autor: TESTA, Francesco, ROSSI, Settimio, Bianchi PE, Fazzi E, Fossarello M, Ziviello C, Auricchio A, Rinaldi E, SIMONELLI, Francesca, BANFI, Sandro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::534eec79bb3ac113294a254c93883cee
http://hdl.handle.net/11591/222132

PPARG Polymorphisms Are Not Associated With Prevalence of Proliferative Retinopathy in Type 2 Diabetic Patients from South Italy

Autor: Ciccodicola A, GIUGLIANO, Dario, ESPOSITO, Katherine, Iannella R, ROSSI, Settimio, Ziviello C, Banfi S, TESTA, Francesco, SIMONELLI, Francesca, CASAMASSIMI, Amelia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::69cf154a666b08db415ca2676afd7ddb
http://hdl.handle.net/11591/223694

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

Autor: ZIVIELLO, C, SIMONELLI, F, TESTA, F, ANASTASI, Mario, M, MARZOLI, SB, FALSINI, B, GHIGLIO NR, D, MACALUSO, C, MANITTO, MP, GARRE, C, CICCODICOLA, A, RINALDI, E, BANFI

Publikováno v: Journal of medical genetics
42 (2005). doi:10.1136/jmg.2005.031682
info:cnr-pdr/source/autori:Ziviello C.; Simonelli F.; Testa F.; Anastasi M.; Marzoli S.B.; Falsini B.; Ghiglione D.; Macaluso C.; Manitto M.P.; Garre C.; Ciccodicola A.; Rinaldi E.; Banfi S./titolo:Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families/doi:10.1136%2Fjmg.2005.031682/rivista:Journal of medical genetics (Print)/anno:2005/pagina_da:/pagina_a:/intervallo_pagine:/volume:42
Scopus-Elsevier

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bafb572e2a8a75e78e657e8c736ec1
http://hdl.handle.net/11367/81288