Publications by authors named "Sandro Banfi"

96Publications

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Invest Ophthalmol Vis Sci 2020 Dec;61(14):36

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.

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December 2020

Mutation-Independent Therapies for Retinal Diseases: Focus on Gene-Based Approaches.

Front Neurosci 2020 24;14:588234. Epub 2020 Sep 24.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

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September 2020

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in : Detailed clinical investigation in a 9-years-old female.

Mol Genet Metab Rep 2020 Sep 20;24:100615. Epub 2020 Jun 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Via Pansini 5, 80131 Naples, Italy.

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September 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Jul 20;22(7):1235-1246. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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July 2020

The Pervasive Role of the miR-181 Family in Development, Neurodegeneration, and Cancer.

Int J Mol Sci 2020 Mar 18;21(6). Epub 2020 Mar 18.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078 Pozzuoli, Naples, Italy.

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March 2020

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.

Int J Mol Sci 2019 Dec 20;21(1). Epub 2019 Dec 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', via Pansini 5, 80131 Naples, Italy.

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December 2019

AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death.

Mol Ther Nucleic Acids 2020 Mar 18;19:144-156. Epub 2019 Nov 18.

Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' via Luigi De Crecchio 7, 80138 Naples (NA), Italy. Electronic address:

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March 2020

Non-coding RNAs in retinal development and function.

Hum Genet 2019 Sep 5;138(8-9):957-971. Epub 2018 Sep 5.

Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 7, 80138, Naples, Italy.

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September 2019

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Genes (Basel) 2017 Oct 20;8(10). Epub 2017 Oct 20.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy.

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October 2017

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Eur J Hum Genet 2017 05 8;25(5):651-655. Epub 2017 Mar 8.

Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.

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May 2017

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

Ophthalmic Genet 2017 May-Jun;38(3):267-272. Epub 2016 Jun 8.

a Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences , Second University of Naples , Naples , Italy.

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November 2017

An atlas of gene expression and gene co-regulation in the human retina.

Nucleic Acids Res 2016 07 27;44(12):5773-84. Epub 2016 May 27.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli, Italy Dept. Of Chemical, Materials and Industrial Production Engineering, University of Naples 'Federico II', Piazzale Tecchio 80, 80125 Naples, Italy

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July 2016

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.

Nucleic Acids Res 2016 Feb 26;44(4):1525-40. Epub 2016 Jan 26.

Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, via Luigi De Crecchio 7, 80138 Naples (NA), Italy

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February 2016

TGF-β Controls miR-181/ERK Regulatory Network during Retinal Axon Specification and Growth.

PLoS One 2015 7;10(12):e0144129. Epub 2015 Dec 7.

Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli (Naples), 80078, Italy.

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June 2016

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

Proc Natl Acad Sci U S A 2015 Jun 8;112(25):E3236-45. Epub 2015 Jun 8.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom; European Retinal Dystrophy Consortium; United Kingdom Inherited Retinal Disease Consortium, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom

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June 2015

Gene therapy of inherited retinal degenerations: prospects and challenges.

Hum Gene Ther 2015 Apr;26(4):193-200

1 Telethon Institute of Genetics and Medicine (TIGEM) , Pozzuoli, Naples 80078, Italy .

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April 2015

miR-181a/b control the assembly of visual circuitry by regulating retinal axon specification and growth.

Dev Neurobiol 2015 Nov 11;75(11):1252-67. Epub 2015 Jun 11.

Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli (Naples), 80078, Italy.

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November 2015

Inherited Retinal Dystrophies: the role of gene expression regulators.

Int J Biochem Cell Biol 2015 Apr 16;61:115-9. Epub 2015 Feb 16.

Telethon Institute for Genetics and Medicine, via Campi Flegrei 34, 80078 Pozzuoli, NA, Italy; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, via Luigi De Crecchio 7, 80138 Naples, Italy. Electronic address:

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April 2015

The combination of transcriptomics and informatics identifies pathways targeted by miR-204 during neurogenesis and axon guidance.

Nucleic Acids Res 2014 Jul 3;42(12):7793-806. Epub 2014 Jun 3.

Telethon Institute of Genetics and Medicine, Via Pietro Castellino, 111, 80131 Naples, Italy Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, 80138 Naples, Italy

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July 2014

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.

Stem Cell Res 2014 Mar 28;12(2):323-37. Epub 2013 Nov 28.

Department of Biophysics, Biochemistry and General Pathology, Seconda Università di Napoli, 80138 Napoli, Italy. Electronic address:

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March 2014

Non-coding RNAs in the development of sensory organs and related diseases.

Cell Mol Life Sci 2013 Nov 16;70(21):4141-55. Epub 2013 Apr 16.

Telethon Institute of Genetics and Medicine, Via Pietro Castellino, 111, 80131, Naples, Italy,

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November 2013

Molecular epidemiology of Usher syndrome in Italy.

Mol Vis 2011 22;17:1662-8. Epub 2011 Jun 22.

Medical Genetics, Department of Reproductive Sciences, Development and Public Health, IRCCS-Burlo Garofolo Children Hospital, University of Trieste, Trieste, 34100 Italy.

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November 2011

miRNeye: a microRNA expression atlas of the mouse eye.

BMC Genomics 2010 Dec 20;11:715. Epub 2010 Dec 20.

Telethon Institute for Genetics and Medicine, Via P. Castellino 111, Naples, Italy.

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December 2010

miR-204 is required for lens and retinal development via Meis2 targeting.

Proc Natl Acad Sci U S A 2010 Aug 16;107(35):15491-6. Epub 2010 Aug 16.

Telethon Institute of Genetics and Medicine, 80131 Naples, Italy.

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August 2010

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements.

BMC Genomics 2010 Mar 4;11:151. Epub 2010 Mar 4.

Telethon Institute of Genetics and Medicine (TIGEM), via Pietro Castellino 111, 80131 Napoli, Italy.

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March 2010

microRNAs and genetic diseases.

Pathogenetics 2009 Nov 4;2(1). Epub 2009 Nov 4.

Telethon Institute of Genetics and Medicine (TIGEM), 80131 Naples, Italy.

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November 2009

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2009 Apr 13;50(4):1864-72. Epub 2008 Dec 13.

Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Massachusetts 02114, USA.

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April 2009

CoGemiR: a comparative genomics microRNA database.

BMC Genomics 2008 Oct 6;9:457. Epub 2008 Oct 6.

TIGEM Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Naples Italy.

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October 2008

A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas.

Invest Ophthalmol Vis Sci 2008 Jun 15;49(6):2330-6. Epub 2008 Feb 15.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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June 2008

Identification and expression analysis of novel Jakmip1 transcripts.

Gene 2007 Nov 14;402(1-2):1-8. Epub 2007 Jul 14.

Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, Via Pietro Castellino 111, 80131 Naples, Italy.

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November 2007

Identification and characterization of microRNAs expressed in the mouse eye.

Invest Ophthalmol Vis Sci 2007 Feb;48(2):509-15

Telethon Institute for Genetics and Medicine, Naples, Italy.

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February 2007

Transcriptional regulation by Barhl1 and Brn-3c in organ-of-Corti-derived cell lines.

Brain Res Mol Brain Res 2005 Nov 13;141(2):174-80. Epub 2005 Oct 13.

Molecular Audiology Group, Centre for Auditory Research, UCL Ear Institute, 332 Gray's Inn Rd, London WC1X 8EE, UK.

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November 2005

Natural antisense transcripts associated with genes involved in eye development.

Hum Mol Genet 2005 Apr 9;14(7):913-23. Epub 2005 Feb 9.

Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, 80131 Naples, Italy.

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April 2005

Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain.

Gene Expr Patterns 2004 May;4(3):297-301

Stem Cell Research Institute (SCRI), Istituto Scientifico San Raffaele (HSR), Via Olgettina 58, Milan 20132, Italy.

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May 2004

Human chromosome 21 gene expression atlas in the mouse.

Nature 2002 Dec;420(6915):582-6

Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland.

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December 2002