Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Autor: Cabrita Pinto RL; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Viaggi S; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Earth, Environmental and Life Sciences, University of Genoa, 16132 Genoa, Italy., Canale E; Infantile Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Martinez Popple M; Infantile Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Capra V; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Conteduca G; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Testa B; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Coviello D; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Covone AE; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

Publikováno v: Genes [Genes (Basel)] 2023 Mar 28; Vol. 14 (4). Date of Electronic Publication: 2023 Mar 28.

In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations.

Autor: Piaggio F; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Croce M; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Reggiani F; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Monti P; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Bernardi C; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Ambrosio M; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Banelli B; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Dogrusöz M; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands., Jockers R; Université de Paris, Institut Cochin, INSERM, CNRS, F-75014 PARIS, France., Bordo D; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Puzone R; IRCCS Ospedale Policlinico San Martino, Genova, Italy., Viaggi S; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, IRCCS Giannina Gaslini Institute Genova, Italy; Department of Earth Sciences, Environment, and Life, Università Degli Studi di Genova, Genova, Italy., Coviello D; Laboratorio Genetica Umana, IRCCS Istituto Giannina Gaslini, IRCCS Giannina Gaslini Institute Genova, Italy., Lanza FB; Ocular Oncology Service, Department of Surgical Oncology, Fondazione IRCCS Istituto Nazionale Dei Tumori, Via Venezian 1, 20133 Milan, Italy., Bartolucci M; Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Giannina Gaslini Institute, Genova, Italy., Petretto A; Core Facilities-Clinical Proteomics and Metabolomics, IRCCS Giannina Gaslini Institute, Genova, Italy., Mosci C; Ente Ospedaliero Galliera, Genova, Italy., Gangemi R; IRCCS Ospedale Policlinico San Martino, Genova, Italy., van der Velden PA; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands., Jager MJ; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands., Pfeffer U; IRCCS Ospedale Policlinico San Martino, Genova, Italy. Electronic address: ulrich.pfeffer@hsanmartino.it., Amaro A; IRCCS Ospedale Policlinico San Martino, Genova, Italy.

Publikováno v: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2022 Jul; Vol. 170, pp. 27-41. Date of Electronic Publication: 2022 May 14.

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Autor: Tassano E; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy, eli.tassano@gmail.com., Uccella S; Department of Medical and Surgical Neuroscience and Rehabilitation, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ronchetto P; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Martinheira Da Silva JS; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Viaggi S; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; DISTAV, University of Genoa, Genoa, Italy., Mancardi M; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ramenghi L; Neonatolgy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Murri A; Unità Operativa di Otorinolaringoiatria, Ospedale Guglielmo da Saliceto, Piacenza, Italy., Biondi M; Unità Operativa di Radiologia, Ospedale Guglielmo da Saliceto, Piacenza, Italy., Gimelli G; Laboratory of Cytogenetics, IRCCS Giannina Gaslini, Genoa, Italy., Morerio C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Malacarne M; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Coviello D; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Publikováno v: Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (3), pp. 132-139. Date of Electronic Publication: 2022 Jul 27.

Simple clinical predictors for making directive decisions in osteoporosis screening for women: a cross-sectional study.

Autor: Leeyaphan, Jirapong¹ lekortho@gmail.com, Rojjananukulpong, Karn¹, Intarasompun, Piyapong¹, Peerakul, Yuthasak¹

Publikováno v: Journal of Orthopaedic Surgery & Research. 11/24/2024, Vol. 19 Issue 1, p1-10. 10p.

Multicenter External Validation of the Liverpool Uveal Melanoma Prognosticator Online: An OOG Collaborative Study.

Autor: Cunha Rola A; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK., Taktak A; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK.; Department of Medical Physics and Clinical Engineering, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, L69 3GA, UK., Eleuteri A; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK.; Department of Medical Physics and Clinical Engineering, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, L69 3GA, UK., Kalirai H; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK., Heimann H; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK., Hussain R; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK., Bonnett LJ; Department of Biostatistics, University of Liverpool, Liverpool, L69 3GL, UK., Hill CJ; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK., Traynor M; Liverpool Bio-Innovation Hub Biobank, University of Liverpool, Liverpool, L7 8TX, UK., Jager MJ; Department of Ophthalmology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands., Marinkovic M; Department of Ophthalmology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands., Luyten GPM; Department of Ophthalmology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands., Dogrusöz M; Department of Ophthalmology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands., Kilic E; Rotterdam Ocular Melanoma Study Group, Erasmus University Medical Center, Rotterdam, 3008 AE, The Netherlands., de Klein A; Rotterdam Ocular Melanoma Study Group, Erasmus University Medical Center, Rotterdam, 3008 AE, The Netherlands., Smit K; Rotterdam Ocular Melanoma Study Group, Erasmus University Medical Center, Rotterdam, 3008 AE, The Netherlands., van Poppelen NM; Rotterdam Ocular Melanoma Study Group, Erasmus University Medical Center, Rotterdam, 3008 AE, The Netherlands., Damato BE; Ocular Oncology, Vitreoretinal Diseases & Surgery, University of California, San Francisco, CA 94143, USA.; Oxford Eye Hospital, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Afshar A; Ocular Oncology, Vitreoretinal Diseases & Surgery, University of California, San Francisco, CA 94143, USA., Guthoff RF; Department of Ophthalmology, University of Rostock, D-18057 Rostock, Germany., Scheef BO; Department of Ophthalmology, University of Rostock, D-18057 Rostock, Germany., Kakkassery V; Department of Ophthalmology, University of Rostock, D-18057 Rostock, Germany.; Department of Ophthalmology, University of Lübeck, D- 23538 Lübeck, Germany., Saakyan S; Ocular Oncology Department, Helmholtz Moscow Research Institute of Eye Diseases, 105062 Moscow, Russia., Tsygankov A; Ocular Oncology Department, Helmholtz Moscow Research Institute of Eye Diseases, 105062 Moscow, Russia., Mosci C; S.C. Oculistica Oncologica - Ocular Oncology Service, Ente ospedaliero Ospedali Galliera, 16128 Genova, Italy., Ligorio P; S.C. Oculistica Oncologica - Ocular Oncology Service, Ente ospedaliero Ospedali Galliera, 16128 Genova, Italy., Viaggi S; DISTAV-Department of Earth, Environment and Life Sciences, University of Genoa, 16132 Genova, Italy.; Laboratory of Human Genetics, IRCCS Istituto G. Gaslini, 16147 Genova, Italy., Le Guin CHD; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany., Bornfeld N; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany., Bechrakis NE; Department of Ophthalmology, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany., Coupland SE; Liverpool Ocular Oncology Research Group, Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, L7 8TX, UK.; Liverpool Clinical Laboratories, Royal Liverpool University Hospital, Liverpool, L69 3GA, UK.

Publikováno v: Cancers [Cancers (Basel)] 2020 Feb 18; Vol. 12 (2). Date of Electronic Publication: 2020 Feb 18.