Sandro Banfi

Sandro Banfi

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Sandro Banfi

Sandro Banfi

Publications by authors named "Sandro Banfi"

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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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http://dx.doi.org/10.1007/s00439-018-1931-yDOI Listing
September 2019

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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http://dx.doi.org/10.1080/13816810.2016.1188120DOI Listing
November 2017

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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http://www.mdpi.com/2073-4425/8/10/280
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http://dx.doi.org/10.3390/genes8100280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664130PMC
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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http://dx.doi.org/10.1038/ejhg.2017.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392360PMC
May 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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http://dx.doi.org/10.1093/nar/gkw486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937338PMC
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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http://dx.doi.org/10.1093/nar/gkw039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770244PMC
February 2016

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033011PMC
http://dx.doi.org/10.1002/dneu.22282DOI Listing
November 2015

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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http://dx.doi.org/10.1073/pnas.1401464112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485104PMC
June 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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http://dx.doi.org/10.1016/j.biocel.2015.02.007DOI Listing
April 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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http://dx.doi.org/10.1089/hum.2015.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410187PMC
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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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gku498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081098PMC
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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http://dx.doi.org/10.1016/j.scr.2013.11.008DOI Listing
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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http://dx.doi.org/10.1007/s00018-013-1335-zDOI Listing
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130723PMC
November 2011

A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

PLoS Biol 2011 Jan 18;9(1):e1000582. Epub 2011 Jan 18.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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http://digital.csic.es/bitstream/10261/52826/1/A%20High-Reso
Web Search
http://dx.plos.org/10.1371/journal.pbio.1000582
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http://dx.doi.org/10.1371/journal.pbio.1000582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022534PMC
January 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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http://dx.doi.org/10.1186/1471-2164-11-715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018480PMC
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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http://dx.doi.org/10.1073/pnas.0914785107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932609PMC
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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http://dx.doi.org/10.1186/1471-2164-11-151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847969PMC
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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http://dx.doi.org/10.1186/1755-8417-2-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778645PMC
November 2009

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

J Neurol 2009 Aug 12;256(8):1252-7. Epub 2009 Apr 12.

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, Naples 80131, Italy.

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http://dx.doi.org/10.1007/s00415-009-5109-3DOI Listing
August 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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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823395PMC
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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http://dx.doi.org/10.1186/1471-2164-9-457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567348PMC
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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http://dx.doi.org/10.1167/iovs.07-1513DOI Listing
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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http://dx.doi.org/10.1016/j.gene.2007.07.001DOI Listing
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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http://dx.doi.org/10.1167/iovs.06-0866DOI Listing
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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http://dx.doi.org/10.1016/j.molbrainres.2005.09.007DOI Listing
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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http://dx.doi.org/10.1093/hmg/ddi084DOI Listing
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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http://dx.doi.org/10.1016/j.modgep.2003.11.001DOI Listing
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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http://www.nature.com/articles/nature01178
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http://dx.doi.org/10.1038/nature01178DOI Listing
December 2002