Evidence for a New Locus for X-Linked Retinitis Pigmentosa (RP23)

Autor: Gorin, MB, Hardcastle, AJ, Thiselton, DL, Zito, I, Ebenezer, N, Mah, TS, Bhattacharya, SS

Publikováno v: Gorin, MB; Hardcastle, AJ; Thiselton, DL; Zito, I; Ebenezer, N; Mah, TS; et al.(2017). Evidence for a New Locus for X-Linked Retinitis Pigmentosa (RP23). UCLA: Retrieved from: http://www.escholarship.org/uc/item/1bp1r0sx

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5f88fc4b508df51cd5e52b849597bf9f
https://escholarship.org/uc/item/1bp1r0sx

DMD/BMD – OUTCOME MEASURES: EP.118 The TREAT NMD DMD Global Registry development

Autor: Mckenna, J., Ambrosini, A., Campbell, C., Goemans, N., Heidemann, M., Martin, A., Segovia, S., Turner, C., Zito, I.

Publikováno v: In Neuromuscular Disorders October 2021 31 Supplement 1:S84-S85

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Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.

Autor: Zampatti S; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy., Mela J; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy., Peconi C; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy., Pagliaroli G; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy., Carboni S; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy., Barrano G; S. Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Zito I; S. Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy., Cascella R; Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.; Department of Chemical-Toxicological and Pharmacological Evaluation of Drugs, Catholic University Our Lady of Good Counsel, Tirana, Albania., Marella G; Department of Experimental Medicine and Surgery, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy., Milano F; Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy., Arcangeli M; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Caltagirone C; Laboratory of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation., Novelli A; S. Pietro Fatebenefratelli Hospital, UOSD Medical Genetics, Rome, Italy.; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy., Giardina E; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, IRCCS, Rome, Italy.; Department of Biomedicine and Prevention, School of Medicine, University of Rome 'Tor Vergata', Rome, Italy.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2018 Dec; Vol. 38 (13), pp. 1096-1102. Date of Electronic Publication: 2018 Nov 20.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Autor: Zito, I., Downes, S.M., Patel, R.J., Cheetham, M.E., Ebenezer, N.D., Jenkins, S.A., Bhattacharya, S.S., Webster, A.R., Holder, G.E., Bird, A.C., Bamiou, D.E., Hardcastle, A.J.

Publikováno v: Journal of Medical Genetics; Aug2003, Vol. 40 Issue 8, p609-615, 7p, 1 Color Photograph, 1 Diagram, 3 Graphs