Publications by authors named "Sandro Banfi"

96Publications

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

Authors:
Valentina Di Iorio Marianthi Karali Paolo Melillo Francesco Testa Raffaella Brunetti-Pierri Francesco Musacchia Christel Condroyer John Neidhardt Isabelle Audo Christina Zeitz Sandro Banfi Francesca Simonelli

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.

Authors:
Sabrina Carrella Alessia Indrieri Brunella Franco Sandro Banfi

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

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Authors:
Laura Kuehlewein Ditta Zobor Sten Olof Andreasson Carmen Ayuso Sandro Banfi Beatrice Bocquet Antje S Bernd Saskia Biskup Camiel J F Boon Susan M Downes M Dominik Fischer Frank G Holz Ulrich Kellner Bart P Leroy Isabelle Meunier Fadi Nasser Thomas Rosenberg Günther Rudolph Katarina Stingl Alberta A H J Thiadens Barbara Wilhelm Bernd Wissinger Eberhart Zrenner Susanne Kohl Nicole Weisschuh

JAMA Ophthalmol 2020 Oct 15. Epub 2020 Oct 15.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.

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October 2020

Pathogenic variants in cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Authors:
Guillaume Olivier Marta Corton Daniela Intartaglia Sanne K Verbakel Panagiotis I Sergouniotis Guylène Le Meur Claire-Marie Dhaenens Hélène Naacke Almudena Avila-Fernández Carel B Hoyng Jeroen Klevering Béatrice Bocquet Agathe Roubertie Audrey Sénéchal Sandro Banfi Agnès Muller Christian L Hamel Graeme C Black Ivan Conte Susanne Roosing Xavier Zanlonghi Carmen Ayuso Isabelle Meunier Gaël Manes

J Med Genet 2020 Aug 17. Epub 2020 Aug 17.

Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France

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August 2020

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

Authors:
Maria Rosaria Barillari Marianthi Karali Valentina Di Iorio Maria Contaldo Vincenzo Piccolo Maria Esposito Giuseppe Costa Giuseppe Argenziano Rosario Serpico Marco Carotenuto Gerarda Cappuccio Sandro Banfi Paolo Melillo Francesca Simonelli

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

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Authors:
Nicola Bedoni Mathieu Quinodoz Michele Pinelli Gerarda Cappuccio Annalaura Torella Vincenzo Nigro Francesco Testa Francesca Simonelli Marta Corton Susanna Lualdi Federica Lanza Giovanni Morana Carmen Ayuso Maja Di Rocco Mirella Filocamo Sandro Banfi Nicola Brunetti-Pierri Andrea Superti-Furga Carlo Rivolta

Hum Mol Genet 2020 Aug;29(13):2250-2260

Department of Genetics and Genome Biology, University of LE1 7RH Leicester, Leicester, UK.

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August 2020

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

Authors:
Mubeen Khan Stéphanie S Cornelis Marta Del Pozo-Valero Laura Whelan Esmee H Runhart Ketan Mishra Femke Bults Yahya AlSwaiti Alaa AlTalbishi Elfride De Baere Sandro Banfi Eyal Banin Miriam Bauwens Tamar Ben-Yosef Camiel J F Boon L Ingeborgh van den Born Sabine Defoort Aurore Devos Adrian Dockery Lubica Dudakova Ana Fakin G Jane Farrar Juliana Maria Ferraz Sallum Kaoru Fujinami Christian Gilissen Damjan Glavač Michael B Gorin Jacquie Greenberg Takaaki Hayashi Ymkje M Hettinga Alexander Hoischen Carel B Hoyng Karsten Hufendiek Herbert Jägle Smaragda Kamakari Marianthi Karali Ulrich Kellner Caroline C W Klaver Bohdan Kousal Tina M Lamey Ian M MacDonald Anna Matynia Terri L McLaren Marcela D Mena Isabelle Meunier Rianne Miller Hadas Newman Buhle Ntozini Monika Oldak Marc Pieterse Osvaldo L Podhajcer Bernard Puech Raj Ramesar Klaus Rüther Manar Salameh Mariana Vallim Salles Dror Sharon Francesca Simonelli Georg Spital Marloes Steehouwer Jacek P Szaflik Jennifer A Thompson Caroline Thuillier Anna M Tracewska Martine van Zweeden Andrea L Vincent Xavier Zanlonghi Petra Liskova Heidi Stöhr John N De Roach Carmen Ayuso Lisa Roberts Bernhard H F Weber Claire-Marie Dhaenens Frans P M Cremers

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.

Authors:
Alessia Indrieri Sabrina Carrella Pietro Carotenuto Sandro Banfi Brunella Franco

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

Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.

Authors:
Federica Naso Daniela Intartaglia Danila Falanga Chiara Soldati Elena Polishchuk Giuliana Giamundo Paola Tiberi Elena Marrocco Paolo Scudieri Chiara Di Malta Ivana Trapani Edoardo Nusco Francesco Giuseppe Salierno Enrico Maria Surace Luis Jv Galietta Sandro Banfi Alberto Auricchio Andrea Ballabio Diego Luis Medina Ivan Conte

EMBO J 2020 04 10;39(8):e102468. Epub 2020 Mar 10.

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

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April 2020

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

Authors:
Marianthi Karali Francesco Testa Raffaella Brunetti-Pierri Valentina Di Iorio Mariateresa Pizzo Paolo Melillo Maria Rosaria Barillari Annalaura Torella Francesco Musacchia Luigi D'Angelo Sandro Banfi Francesca Simonelli

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.

Authors:
Marianthi Karali Irene Guadagnino Elena Marrocco Rossella De Cegli Annamaria Carissimo Mariateresa Pizzo Simona Casarosa Ivan Conte Enrico Maria Surace Sandro Banfi

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

Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.

Authors:
Gerarda Cappuccio Sergio Attanasio Marianna Alagia Margherita Mutarelli Roberta Borzone Marianthi Karali Rita Genesio Angela Mormile Lucio Nitsch Floriana Imperati Annalisa Esposito Sandro Banfi Ennio Del Giudice Nicola Brunetti-Pierri

Eur J Hum Genet 2019 09 31;27(9):1475-1480. Epub 2019 May 31.

Department of Translational Medicine, Section of Paediatrics, Federico II University, Naples, Italy.

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September 2019

miR-181a/b downregulation exerts a protective action on mitochondrial disease models.

Authors:
Alessia Indrieri Sabrina Carrella Alessia Romano Alessandra Spaziano Elena Marrocco Erika Fernandez-Vizarra Sara Barbato Mariateresa Pizzo Yulia Ezhova Francesca M Golia Ludovica Ciampi Roberta Tammaro Jorge Henao-Mejia Adam Williams Richard A Flavell Elvira De Leonibus Massimo Zeviani Enrico M Surace Sandro Banfi Brunella Franco

EMBO Mol Med 2019 05;11(5)

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

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May 2019

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Authors:
Gerarda Cappuccio Raffaella Brunetti-Pierri Annalaura Torella Michele Pinelli Raffaele Castello Giorgio Casari Vincenzo Nigro Sandro Banfi Francesca Simonelli Nicola Brunetti-Pierri

Mol Genet Genomic Med 2019 06 11;7(6):e682. Epub 2019 Apr 11.

Department of Translational Medicine, Federico II University, Naples, Italy.

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June 2019

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Authors:
Stijn Van de Sompele Claire Smith Marianthi Karali Marta Corton Kristof Van Schil Frank Peelman Timothy Cherry Toon Rosseel Hannah Verdin Julien Derolez Thalia Van Laethem Kamron N Khan Martin McKibbin Carmel Toomes Manir Ali Annalaura Torella Francesco Testa Belen Jimenez Francesca Simonelli Julie De Zaeytijd Jenneke Van den Ende Bart P Leroy Frauke Coppieters Carmen Ayuso Chris F Inglehearn Sandro Banfi Elfride De Baere

Genet Med 2019 04;21(4):1028

Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

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April 2019

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Authors:
Stijn Van de Sompele Claire Smith Marianthi Karali Marta Corton Kristof Van Schil Frank Peelman Timothy Cherry Toon Rosseel Hannah Verdin Julien Derolez Thalia Van Laethem Kamron N Khan Martin McKibbin Carmel Toomes Manir Ali Annalaura Torella Francesco Testa Belen Jimenez Francesca Simonelli Julie De Zaeytijd Jenneke Van den Ende Bart P Leroy Frauke Coppieters Carmen Ayuso Chris F Inglehearn Sandro Banfi Elfride De Baere

Genet Med 2019 06 31;21(6):1319-1329. Epub 2018 Oct 31.

Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

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June 2019

Non-coding RNAs in retinal development and function.

Authors:
Marianthi Karali Sandro Banfi

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

microRNAs as biomarkers in Pompe disease.

Authors:
Antonietta Tarallo Annamaria Carissimo Francesca Gatto Edoardo Nusco Antonio Toscano Olimpia Musumeci Marcella Coletta Marianthi Karali Emma Acampora Carla Damiano Nadia Minopoli Simona Fecarotta Roberto Della Casa Tiziana Mongini Liliana Vercelli Lucio Santoro Lucia Ruggiero Federica Deodato Roberta Taurisano Bruno Bembi Andrea Dardis Sandro Banfi W W Pim Pijnappel Ans T van der Ploeg Giancarlo Parenti

Genet Med 2019 03 12;21(3):591-600. Epub 2018 Jul 12.

Department of Translational Medical Sciences, Federico II University, Naples, Italy.

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March 2019

MiR-211 is essential for adult cone photoreceptor maintenance and visual function.

Authors:
Sara Barbato Elena Marrocco Daniela Intartaglia Mariateresa Pizzo Sabrina Asteriti Federica Naso Danila Falanga Rajeshwari S Bhat Nicola Meola Annamaria Carissimo Marianthi Karali Haydn M Prosser Lorenzo Cangiano Enrico Maria Surace Sandro Banfi Ivan Conte

Sci Rep 2017 12 5;7(1):17004. Epub 2017 Dec 5.

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

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December 2017

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

Authors:
Valentina Di Iorio Marianthi Karali Raffaella Brunetti-Pierri Mariaelena Filippelli Giuseppina Di Fruscio Mariateresa Pizzo Margherita Mutarelli Vincenzo Nigro Francesco Testa Sandro Banfi Francesca Simonelli

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

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.

Authors:
Giuseppina Di Fruscio Sandro Banfi Vincenzo Nigro Andrea Ballabio

Methods Mol Biol 2017 ;1594:227-241

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

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February 2018

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

Authors:
Francesco Testa Mariaelena Filippelli Raffaella Brunetti-Pierri Giuseppina Di Fruscio Valentina Di Iorio Mariateresa Pizzo Annalaura Torella Maria Rosaria Barillari Vincenzo Nigro Nicola Brunetti-Pierri Francesca Simonelli Sandro Banfi

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

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

Authors:
Pasquale Piccolo Sergio Attanasio Ilaria Secco Riccardo Sangermano Caterina Strisciuglio Giuseppe Limongelli Erasmo Miele Margherita Mutarelli Sandro Banfi Vincenzo Nigro Tirso Pons Alfonso Valencia Lorena Zentilin Severo Campione Gerardo Nardone Ty C Lynnes Patricia B S Celestino-Soper Katherine G Spoonamore Francesco P D'Armiento Mauro Giacca Annamaria Staiano Matteo Vatta Chiara Collesi Nicola Brunetti-Pierri

Hum Mol Genet 2017 01;26(1):33-43

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

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January 2017

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Authors:
Crystel Bonnet Zied Riahi Sandra Chantot-Bastaraud Luce Smagghe Mélanie Letexier Charles Marcaillou Gaëlle M Lefèvre Jean-Pierre Hardelin Aziz El-Amraoui Amrit Singh-Estivalet Saddek Mohand-Saïd Susanne Kohl Anne Kurtenbach Ieva Sliesoraityte Ditta Zobor Souad Gherbi Francesco Testa Francesca Simonelli Sandro Banfi Ana Fakin Damjan Glavač Martina Jarc-Vidmar Andrej Zupan Saba Battelino Loreto Martorell Sampol Maria Antonia Claveria Jaume Catala Mora Shzeena Dad Lisbeth B Møller Jesus Rodriguez Jorge Marko Hawlina Alberto Auricchio José-Alain Sahel Sandrine Marlin Eberhart Zrenner Isabelle Audo Christine Petit

Eur J Hum Genet 2016 12 27;24(12):1730-1738. Epub 2016 Jul 27.

INSERM UMRS 1120, Institut de la Vision, Paris, France.

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December 2016

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

Authors:
Settimio Rossi Giuseppe De Rosa Francesco Maria D'Alterio Ada Orrico Sandro Banfi Francesco Testa Francesca Simonelli

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.

Authors:
Michele Pinelli Annamaria Carissimo Luisa Cutillo Ching-Hung Lai Margherita Mutarelli Maria Nicoletta Moretti Marwah Veer Singh Marianthi Karali Diego Carrella Mariateresa Pizzo Francesco Russo Stefano Ferrari Diego Ponzin Claudia Angelini Sandro Banfi Diego di Bernardo

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.

Authors:
Marianthi Karali Maria Persico Margherita Mutarelli Annamaria Carissimo Mariateresa Pizzo Veer Singh Marwah Concetta Ambrosio Michele Pinelli Diego Carrella Stefano Ferrari Diego Ponzin Vincenzo Nigro Diego di Bernardo Sandro Banfi

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

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Authors:
Nicole T M Saksens Mark P Krebs Frederieke E Schoenmaker-Koller Wanda Hicks Minzhong Yu Lanying Shi Lucy Rowe Gayle B Collin Jeremy R Charette Stef J Letteboer Kornelia Neveling Tamara W van Moorsel Sleiman Abu-Ltaif Elfride De Baere Sophie Walraedt Sandro Banfi Francesca Simonelli Frans P M Cremers Camiel J F Boon Ronald Roepman Bart P Leroy Neal S Peachey Carel B Hoyng Patsy M Nishina Anneke I den Hollander

Nat Genet 2016 Feb 21;48(2):144-51. Epub 2015 Dec 21.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.

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February 2016

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

Authors:
Sabrina Carrella Sara Barbato Ylenia D'Agostino Francesco Giuseppe Salierno Anna Manfredi Sandro Banfi Ivan Conte

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

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Authors:
Giuseppina Di Fruscio Angela Schulz Rossella De Cegli Marco Savarese Margherita Mutarelli Giancarlo Parenti Sandro Banfi Thomas Braulke Vincenzo Nigro Andrea Ballabio

Autophagy 2015 ;11(6):928-38

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

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April 2016

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

Authors:
Ivan Conte Kristen D Hadfield Sara Barbato Sabrina Carrella Mariateresa Pizzo Rajeshwari S Bhat Annamaria Carissimo Marianthi Karali Louise F Porter Jill Urquhart Sofie Hateley James O'Sullivan Forbes D C Manson Stephan C F Neuhauss Sandro Banfi Graeme C M Black

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.

Authors:
Ivana Trapani Sandro Banfi Francesca Simonelli Enrico M Surace Alberto Auricchio

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.

Authors:
Sabrina Carrella Ylenia D'Agostino Sara Barbato Sabina P Huber-Reggi Francesco G Salierno Anna Manfredi Stephan C F Neuhauss Sandro Banfi Ivan Conte

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.

Authors:
Marianthi Karali Sandro Banfi

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

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Authors:
Susanne Roosing L Ingeborgh van den Born Riccardo Sangermano Sandro Banfi Robert K Koenekoop Marijke N Zonneveld-Vrieling Caroline C W Klaver Janneke J C van Lith-Verhoeven Frans P M Cremers Anneke I den Hollander Carel B Hoyng

Ophthalmology 2015 Jan 13;122(1):170-9. Epub 2014 Sep 13.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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January 2015

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

Authors:
Ivan Conte Stefania Merella Jose Manuel Garcia-Manteiga Chiara Migliore Dejan Lazarevic Sabrina Carrella Raquel Marco-Ferreres Raffaella Avellino Nathan Paul Davidson Warren Emmett Remo Sanges Nicholas Bockett David Van Heel Germana Meroni Paola Bovolenta Elia Stupka Sandro Banfi

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.

Authors:
Antonietta Coppola Antonio Romito Christelle Borel Corinne Gehrig Maryline Gagnebin Emilie Falconnet Antonella Izzo Lucia Altucci Sandro Banfi Stylianos E Antonarakis Gabriella Minchiotti Gilda Cobellis

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

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Authors:
James A Poulter Musallam Al-Araimi Ivan Conte Maria M van Genderen Eamonn Sheridan Ian M Carr David A Parry Mike Shires Sabrina Carrella John Bradbury Kamron Khan Phillis Lakeman Panagiotis I Sergouniotis Andrew R Webster Anthony T Moore Bishwanath Pal Moin D Mohamed Anandula Venkataramana Vedam Ramprasad Rohit Shetty Murugan Saktivel Govindasamy Kumaramanickavel Alex Tan David A Mackey Alex W Hewitt Sandro Banfi Manir Ali Chris F Inglehearn Carmel Toomes

Am J Hum Genet 2013 Dec 27;93(6):1143-50. Epub 2013 Nov 27.

Leeds Institute of Molecular Medicine, University of Leeds, Leeds, West Yorkshire LS9 7TF, UK.

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December 2013

Mutations in IMPG1 cause vitelliform macular dystrophies.

Authors:
Gaël Manes Isabelle Meunier Almudena Avila-Fernández Sandro Banfi Guylène Le Meur Xavier Zanlonghi Marta Corton Francesca Simonelli Philippe Brabet Gilles Labesse Isabelle Audo Saddek Mohand-Said Christina Zeitz José-Alain Sahel Michel Weber Hélène Dollfus Claire-Marie Dhaenens Delphine Allorge Elfride De Baere Robert K Koenekoop Susanne Kohl Frans P M Cremers Joe G Hollyfield Audrey Sénéchal Maxime Hebrard Béatrice Bocquet Carmen Ayuso García Christian P Hamel

Am J Hum Genet 2013 Sep 29;93(3):571-8. Epub 2013 Aug 29.

INSERM U1051, Institute for Neurosciences of Montpellier, Université Montpellier 1, Montpellier, France.

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September 2013

miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration.

Authors:
Raffaella Avellino Sabrina Carrella Marinella Pirozzi Maurizio Risolino Francesco Giuseppe Salierno Paola Franco Patrizia Stoppelli Pasquale Verde Sandro Banfi Ivan Conte

PLoS One 2013 19;8(4):e61099. Epub 2013 Apr 19.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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November 2013

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

Authors:
Ivan Conte Sandro Banfi Paola Bovolenta

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

Pax6 regulates gene expression in the vertebrate lens through miR-204.

Authors:
Ohad Shaham Karen Gueta Eyal Mor Pazit Oren-Giladi Dina Grinberg Qing Xie Ales Cvekl Noam Shomron Noa Davis Maya Keydar-Prizant Shaul Raviv Metsada Pasmanik-Chor Rachel E Bell Carmit Levy Raffaella Avellino Sandro Banfi Ivan Conte Ruth Ashery-Padan

PLoS Genet 2013 14;9(3):e1003357. Epub 2013 Mar 14.

Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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June 2013

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.

Authors:
Francesco Testa Albert M Maguire Settimio Rossi Eric A Pierce Paolo Melillo Kathleen Marshall Sandro Banfi Enrico M Surace Junwei Sun Carmela Acerra J Fraser Wright Jennifer Wellman Katherine A High Alberto Auricchio Jean Bennett Francesca Simonelli

Ophthalmology 2013 Jun 6;120(6):1283-91. Epub 2013 Mar 6.

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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June 2013

Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development.

Authors:
Remo Sanges Yavor Hadzhiev Marion Gueroult-Bellone Agnes Roure Marco Ferg Nicola Meola Gabriele Amore Swaraj Basu Euan R Brown Marco De Simone Francesca Petrera Danilo Licastro Uwe Strähle Sandro Banfi Patrick Lemaire Ewan Birney Ferenc Müller Elia Stupka

Nucleic Acids Res 2013 Apr 7;41(6):3600-18. Epub 2013 Feb 7.

Laboratory of Animal Physiology and Evolution, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Naples, Italy.

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April 2013

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.

Authors:
Ivana Peluso Ivan Conte Francesco Testa Gopuraja Dharmalingam Mariateresa Pizzo Rob W J Collin Nicola Meola Sara Barbato Margherita Mutarelli Carmela Ziviello Anna Maria Barbarulo Vincenzo Nigro Mariarosa A B Melone Francesca Simonelli Sandro Banfi

Orphanet J Rare Dis 2013 Jan 28;8:16. Epub 2013 Jan 28.

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

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January 2013

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Authors:
Isabelle Perrault Alejandro Estrada-Cuzcano Irma Lopez Susanne Kohl Shiqiang Li Francesco Testa Renate Zekveld-Vroon Xia Wang Esther Pomares Jean Andorf Nisrine Aboussair Sandro Banfi Nathalie Delphin Anneke I den Hollander Catherine Edelson Ralph Florijn Marc Jean-Pierre Corinne Leowski Andre Megarbane Cristina Villanueva Blanca Flores Arnold Munnich Huanan Ren Ditta Zobor Arthur Bergen Rui Chen Frans P M Cremers Roser Gonzalez-Duarte Robert K Koenekoop Francesca Simonelli Edwin Stone Bernd Wissinger Qingjiong Zhang Josseline Kaplan Jean-Michel Rozet

PLoS One 2013 7;8(1):e51622. Epub 2013 Jan 7.

Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France.

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July 2013

Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation.

Authors:
Rossella De Cegli Simona Iacobacci Gemma Flore Gennaro Gambardella Lei Mao Luisa Cutillo Mario Lauria Joachim Klose Elizabeth Illingworth Sandro Banfi Diego di Bernardo

Nucleic Acids Res 2013 Jan 23;41(2):711-26. Epub 2012 Nov 23.

Telethon Institute of Genetics and Medicine, Via P. Castellino 111, Napoli 80131, Italy.

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January 2013

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Authors:
Alejandro Estrada-Cuzcano Robert K Koenekoop Audrey Senechal Elfride B W De Baere Thomy de Ravel Sandro Banfi Susanne Kohl Carmen Ayuso Dror Sharon Carel B Hoyng Christian P Hamel Bart P Leroy Carmela Ziviello Irma Lopez Alexandre Bazinet Bernd Wissinger Ieva Sliesoraityte Almudena Avila-Fernandez Karin W Littink Enzo M Vingolo Sabrina Signorini Eyal Banin Liliana Mizrahi-Meissonnier Eberhard Zrenner Ulrich Kellner Rob W J Collin Anneke I den Hollander Frans P M Cremers B Jeroen Klevering

Arch Ophthalmol 2012 Nov;130(11):1425-32

Departments of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.

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November 2012

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

Authors:
Danilo Licastro Margherita Mutarelli Ivana Peluso Kornelia Neveling Nienke Wieskamp Rossella Rispoli Diego Vozzi Emmanouil Athanasakis Angela D'Eustacchio Mariateresa Pizzo Francesca D'Amico Carmela Ziviello Francesca Simonelli Antonella Fabretto Hans Scheffer Paolo Gasparini Sandro Banfi Vincenzo Nigro

PLoS One 2012 29;7(8):e43799. Epub 2012 Aug 29.

Cluster in Biomedicine scrl - Genomics, Area Science Park, Basovizza, Trieste, Italy.

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February 2013

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Authors:
Francesco Testa Settimio Rossi Andrea Sodi Ilaria Passerini Valentina Di Iorio Michele Della Corte Sandro Banfi Enrico Maria Surace Ugo Menchini Alberto Auricchio Francesca Simonelli

Invest Ophthalmol Vis Sci 2012 Jul 3;53(8):4409-15. Epub 2012 Jul 3.

Department of Ophthalmology, Department of General Pathology, Seconda Università degli Studi di Napoli, Naples, Italy.

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July 2012

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Authors:
Marcella Neri Emanuele Valli Giovanna Alfano Matteo Bovolenta Pietro Spitali Claudio Rapezzi Francesco Muntoni Sandro Banfi Giovanni Perini Francesca Gualandi Alessandra Ferlini

BMC Med Genet 2012 Mar 28;13:20. Epub 2012 Mar 28.

Department of Experimental Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy.

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March 2012

Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction.

Authors:
Gabriella Cotugno Patrizia Annunziata Maria Vittoria Barone Marianthi Karali Sandro Banfi Alberto Auricchio

PLoS One 2012 13;7(3):e33286. Epub 2012 Mar 13.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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August 2012

Identification of microRNA-regulated gene networks by expression analysis of target genes.

Authors:
Vincenzo Alessandro Gennarino Giovanni D'Angelo Gopuraja Dharmalingam Serena Fernandez Giorgio Russolillo Remo Sanges Margherita Mutarelli Vincenzo Belcastro Andrea Ballabio Pasquale Verde Marco Sardiello Sandro Banfi

Genome Res 2012 Jun 24;22(6):1163-72. Epub 2012 Feb 24.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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June 2012

The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina.

Authors:
Nicola Meola Mariateresa Pizzo Giovanna Alfano Enrico Maria Surace Sandro Banfi

RNA 2012 Jan 29;18(1):111-23. Epub 2011 Nov 29.

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

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January 2012

MicroRNA-restricted transgene expression in the retina.

Authors:
Marianthi Karali Anna Manfredi Agostina Puppo Elena Marrocco Annagiusi Gargiulo Mariacarmela Allocca Michele Della Corte Settimio Rossi Massimo Giunti Maria Laura Bacci Francesca Simonelli Enrico Maria Surace Sandro Banfi Alberto Auricchio

PLoS One 2011 26;6(7):e22166. Epub 2011 Jul 26.

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

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December 2011

Molecular epidemiology of Usher syndrome in Italy.

Authors:
Diego Vozzi Anu Aaspõllu Emmanouil Athanasakis Anna Berto Antonella Fabretto Danilo Licastro Maigi Külm Francesco Testa Patrizia Trevisi Marju Vahter Carmela Ziviello Alessandro Martini Francesca Simonelli Sandro Banfi Paolo Gasparini

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

Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.

Authors:
Francesco Testa Enrico Maria Surace Settimio Rossi Elena Marrocco Annagiusi Gargiulo Valentina Di Iorio Carmela Ziviello Anna Nesti Simona Fecarotta Maria Laura Bacci Massimo Giunti Michele Della Corte Sandro Banfi Alberto Auricchio Francesca Simonelli

Invest Ophthalmol Vis Sci 2011 Jul 29;52(8):5618-24. Epub 2011 Jul 29.

Department of Ophthalmology, Seconda Università degli Studi di Napoli, Naples, Italy.

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July 2011

HOCTAR database: a unique resource for microRNA target prediction.

Authors:
Vincenzo Alessandro Gennarino Marco Sardiello Margherita Mutarelli Gopuraja Dharmalingam Vincenza Maselli Giampiero Lago Sandro Banfi

Gene 2011 Jul 22;480(1-2):51-8. Epub 2011 Mar 22.

Telethon Institute of Genetics and Medicine, Naples, Italy.

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July 2011

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

Authors:
Graciana Diez-Roux Sandro Banfi Marc Sultan Lars Geffers Santosh Anand David Rozado Alon Magen Elena Canidio Massimiliano Pagani Ivana Peluso Nathalie Lin-Marq Muriel Koch Marchesa Bilio Immacolata Cantiello Roberta Verde Cristian De Masi Salvatore A Bianchi Juliette Cicchini Elodie Perroud Shprese Mehmeti Emilie Dagand Sabine Schrinner Asja Nürnberger Katja Schmidt Katja Metz Christina Zwingmann Norbert Brieske Cindy Springer Ana Martinez Hernandez Sarah Herzog Frauke Grabbe Cornelia Sieverding Barbara Fischer Kathrin Schrader Maren Brockmeyer Sarah Dettmer Christin Helbig Violaine Alunni Marie-Annick Battaini Carole Mura Charlotte N Henrichsen Raquel Garcia-Lopez Diego Echevarria Eduardo Puelles Elena Garcia-Calero Stefan Kruse Markus Uhr Christine Kauck Guangjie Feng Nestor Milyaev Chuang Kee Ong Lalit Kumar MeiSze Lam Colin A Semple Attila Gyenesei Stefan Mundlos Uwe Radelof Hans Lehrach Paolo Sarmientos Alexandre Reymond Duncan R Davidson Pascal Dollé Stylianos E Antonarakis Marie-Laure Yaspo Salvador Martinez Richard A Baldock Gregor Eichele Andrea Ballabio

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

Telethon Institute of Genetics and Medicine, Naples, Italy.

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January 2011

miRNeye: a microRNA expression atlas of the mouse eye.

Authors:
Marianthi Karali Ivana Peluso Vincenzo A Gennarino Marchesa Bilio Roberta Verde Giampiero Lago Pascal Dollé Sandro Banfi

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

Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.

Authors:
Giovanna Alfano Ivan Conte Tiziana Caramico Raffaella Avellino Benedetta Arnò Maria Teresa Pizzo Naoyuki Tanimoto Susanne C Beck Gesine Huber Pascal Dollé Mathias W Seeliger Sandro Banfi

Development 2011 Jan 9;138(2):261-71. Epub 2010 Dec 9.

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

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January 2011

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

Authors:
Ivan Conte Sabrina Carrella Raffaella Avellino Marianthi Karali Raquel Marco-Ferreres Paola Bovolenta Sandro Banfi

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

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Authors:
Dikla Bandah-Rozenfeld Rob W J Collin Eyal Banin L Ingeborgh van den Born Karlien L M Coene Anna M Siemiatkowska Lina Zelinger Muhammad I Khan Dirk J Lefeber Inbar Erdinest Francesco Testa Francesca Simonelli Krysta Voesenek Ellen A W Blokland Tim M Strom Caroline C W Klaver Raheel Qamar Sandro Banfi Frans P M Cremers Dror Sharon Anneke I den Hollander

Am J Hum Genet 2010 Aug 30;87(2):199-208. Epub 2010 Jul 30.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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August 2010

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.

Authors:
Rossella De Cegli Antonio Romito Simona Iacobacci Lei Mao Mario Lauria Anthony O Fedele Joachim Klose Christelle Borel Patrick Descombes Stylianos E Antonarakis Diego di Bernardo Sandro Banfi Andrea Ballabio Gilda Cobellis

Genome Biol 2010 22;11(6):R64. Epub 2010 Jun 22.

Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy.

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November 2010

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

Authors:
Danilo Licastro Vincenzo A Gennarino Francesca Petrera Remo Sanges Sandro Banfi Elia Stupka

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

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.

Authors:
Francesca Simonelli Albert M Maguire Francesco Testa Eric A Pierce Federico Mingozzi Jeannette L Bennicelli Settimio Rossi Kathleen Marshall Sandro Banfi Enrico M Surace Junwei Sun T Michael Redmond Xiaosong Zhu Kenneth S Shindler Gui-Shuang Ying Carmela Ziviello Carmela Acerra J Fraser Wright Jennifer Wellman McDonnell Katherine A High Jean Bennett Alberto Auricchio

Mol Ther 2010 Mar 1;18(3):643-50. Epub 2009 Dec 1.

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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March 2010

microRNAs and genetic diseases.

Authors:
Nicola Meola Vincenzo Alessandro Gennarino Sandro Banfi

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

UTRdb and UTRsite (RELEASE 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs.

Authors:
Giorgio Grillo Antonio Turi Flavio Licciulli Flavio Mignone Sabino Liuni Sandro Banfi Vincenzo Alessandro Gennarino David S Horner Giulio Pavesi Ernesto Picardi Graziano Pesole

Nucleic Acids Res 2010 Jan 30;38(Database issue):D75-80. Epub 2009 Oct 30.

Istituto Tecnologie Biomediche del Consiglio Nazionale delle Ricerche, via Amendola 122/D, 70126 Bari, Italy.

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January 2010

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Authors:
Albert M Maguire Katherine A High Alberto Auricchio J Fraser Wright Eric A Pierce Francesco Testa Federico Mingozzi Jeannette L Bennicelli Gui-shuang Ying Settimio Rossi Ann Fulton Kathleen A Marshall Sandro Banfi Daniel C Chung Jessica I W Morgan Bernd Hauck Olga Zelenaia Xiaosong Zhu Leslie Raffini Frauke Coppieters Elfride De Baere Kenneth S Shindler Nicholas J Volpe Enrico M Surace Carmela Acerra Arkady Lyubarsky T Michael Redmond Edwin Stone Junwei Sun Jennifer Wellman McDonnell Bart P Leroy Francesca Simonelli Jean Bennett

Lancet 2009 Nov 23;374(9701):1597-605. Epub 2009 Oct 23.

F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

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November 2009

A gene network regulating lysosomal biogenesis and function.

Authors:
Marco Sardiello Michela Palmieri Alberto di Ronza Diego Luis Medina Marta Valenza Vincenzo Alessandro Gennarino Chiara Di Malta Francesca Donaudy Valerio Embrione Roman S Polishchuk Sandro Banfi Giancarlo Parenti Elena Cattaneo Andrea Ballabio

Science 2009 Jul 25;325(5939):473-7. Epub 2009 Jun 25.

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

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July 2009

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

Authors:
Chiara Criscuolo Alessandro Filla Giovanni Coppola Carlo Rinaldi Rosa Carbone Stefano Pinto Qing Wang Maria Fulvia de Leva Elena Salvatore Sandro Banfi Arturo Brunetti Mario Quarantelli Daniel H Geschwind Sabina Pappatà Giuseppe De Michele

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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August 2009

MicroRNA target prediction by expression analysis of host genes.

Authors:
Vincenzo Alessandro Gennarino Marco Sardiello Raffaella Avellino Nicola Meola Vincenza Maselli Santosh Anand Luisa Cutillo Andrea Ballabio Sandro Banfi

Genome Res 2009 Mar 16;19(3):481-90. Epub 2008 Dec 16.

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

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March 2009

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

Authors:
Anneke I den Hollander Terri L McGee Carmela Ziviello Sandro Banfi Thaddeus P Dryja Federico Gonzalez-Fernandez Debashis Ghosh Eliot L Berson

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.

Authors:
Vincenza Maselli Diego Di Bernardo Sandro Banfi

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

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

Authors:
Virginia M Ginocchio Daniele De Brasi Rita Genesio Roberto Ciccone Stefania Gimelli Francesco Fimiani Teresa de Berardinis Lucio Nitsch Sandro Banfi Adriano Magli Roberto Della Casa

Eur J Med Genet 2008 Nov-Dec;51(6):658-65. Epub 2008 Aug 13.

Department of Pediatrics, Federico II University, Naples, Italy.

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March 2009

Safety and efficacy of gene transfer for Leber's congenital amaurosis.

Authors:
Albert M Maguire Francesca Simonelli Eric A Pierce Edward N Pugh Federico Mingozzi Jeannette Bennicelli Sandro Banfi Kathleen A Marshall Francesco Testa Enrico M Surace Settimio Rossi Arkady Lyubarsky Valder R Arruda Barbara Konkle Edwin Stone Junwei Sun Jonathan Jacobs Lou Dell'Osso Richard Hertle Jian-xing Ma T Michael Redmond Xiaosong Zhu Bernd Hauck Olga Zelenaia Kenneth S Shindler Maureen G Maguire J Fraser Wright Nicholas J Volpe Jennifer Wellman McDonnell Alberto Auricchio Katherine A High Jean Bennett

N Engl J Med 2008 May 27;358(21):2240-8. Epub 2008 Apr 27.

Scheie Eye Institute, University of Pennsylvania, USA.

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May 2008

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

Authors:
Dragana Trifunovic Marianthi Karali Davide Camposampiero Diego Ponzin Sandro Banfi Valeria Marigo

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.

Authors:
Valerio Costa Ivan Conte Carmela Ziviello Amelia Casamassimi Giovanna Alfano Sandro Banfi Alfredo Ciccodicola

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

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Authors:
Francesca Simonelli Carmela Ziviello Francesco Testa Settimio Rossi Elisa Fazzi Paolo Emilio Bianchi Maurizio Fossarello Sabrina Signorini Chiara Bertone Silvana Galantuomo Francesco Brancati Enza Maria Valente Alfredo Ciccodicola Ernesto Rinaldi Alberto Auricchio Sandro Banfi

Invest Ophthalmol Vis Sci 2007 Sep;48(9):4284-90

Department of Ophthalmology, Second University of Naples, Naples, Italy.

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September 2007

Identification and characterization of microRNAs expressed in the mouse eye.

Authors:
Marianthi Karali Ivana Peluso Valeria Marigo Sandro Banfi

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

Telethon Institute for Genetics and Medicine, Naples, Italy.

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February 2007

Development of a genotyping microarray for Usher syndrome.

Authors:
Frans P M Cremers William J Kimberling Maigi Külm Arjan P de Brouwer Erwin van Wijk Heleen te Brinke Cor W R J Cremers Lies H Hoefsloot Sandro Banfi Francesca Simonelli Johannes C Fleischhauer Wolfgang Berger Phil M Kelley Elene Haralambous Maria Bitner-Glindzicz Andrew R Webster Zubin Saihan Elfride De Baere Bart P Leroy Giuliana Silvestri Gareth J McKay Robert K Koenekoop Jose M Millan Thomas Rosenberg Tarja Joensuu Eeva-Marja Sankila Dominique Weil Mike D Weston Bernd Wissinger Hannie Kremer

J Med Genet 2007 Feb 8;44(2):153-60. Epub 2006 Sep 8.

Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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February 2007

An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer.

Authors:
Dario Antonini Barbara Rossi Rong Han Annunziata Minichiello Tina Di Palma Marcella Corrado Sandro Banfi Mariastella Zannini Janice L Brissette Caterina Missero

Mol Cell Biol 2006 Apr;26(8):3308-18

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

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April 2006

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

Authors:
Richa Sud Chris M Jones Sandro Banfi Sally J Dawson

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

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

Authors:
Chiara Criscuolo Francesco Saccà Giuseppe De Michele Pietro Mancini Onofre Combarros Jon Infante Antonio Garcia Sandro Banfi Alessandro Filla José Berciano

Mov Disord 2005 Oct;20(10):1358-61

Department of Neurological Sciences, Federico II University, Naples, Italy.

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October 2005

Very late onset in ataxia oculomotor apraxia type I.

Authors:
Chiara Criscuolo Pietro Mancini Valeria Menchise Francesco Saccà Giuseppe De Michele Sandro Banfi Alessandro Filla

Ann Neurol 2005 May;57(5):777

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May 2005

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Authors:
Giovanni Coppola Chiara Criscuolo Giuseppe De Michele Salvatore Striano Fabrizio Barbieri Pasquale Striano Anna Perretti Lucio Santoro Vincenzo Brescia Morra Francesco Saccà Valentina Scarano Adamo P D'Adamo Sandro Banfi Paolo Gasparini Filippo M Santorelli Anna E Lehesjoki Alessandro Filla

J Neurol 2005 Aug 8;252(8):897-900. Epub 2005 Mar 8.

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

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August 2005

Natural antisense transcripts associated with genes involved in eye development.

Authors:
Giovanna Alfano Carmen Vitiello Cristina Caccioppoli Tiziana Caramico Antonietta Carola Michael J Szego Roderick R McInnes Alberto Auricchio Sandro Banfi

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

DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.

Authors:
Angelo Boccia Mauro Petrillo Diego di Bernardo Alessandro Guffanti Flavio Mignone Stefano Confalonieri Lucilla Luzi Graziano Pesole Giovanni Paolella Andrea Ballabio Sandro Banfi

Nucleic Acids Res 2005 Jan;33(Database issue):D505-10

CEINGE Biotecnologie Avanzate, Naples, Italy.

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January 2005

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

Authors:
Alessandro Bulfone Cristina Caccioppoli Celia Pardini Andrea Faedo Salvador Martinez Sandro Banfi

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

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Authors:
Giovanni Lavorgna Marta Lestingi Carmela Ziviello Francesco Testa Francesca Simonelli Maria Pia Manitto Rosario Brancato Maurizio Ferrari Ernesto Rinaldi Alfredo Ciccodicola Sandro Banfi

Biochem Biophys Res Commun 2003 Aug;308(3):414-21

Scientific Institute Hospital San Raffaele (DIBIT), Milan, Italy.

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August 2003

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.

Authors:
Maria I Ferrante Adriano Barra Jean-Pierre Truong Sandro Banfi Christine M Disteche Brunella Franco

Genomics 2003 Jun;81(6):560-9

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

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June 2003

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

Authors:
Ivan Conte Marta Lestingi Anneke den Hollander Giovanna Alfano Carmela Ziviello Mariarosaria Pugliese Diego Circolo Cristina Caccioppoli Alfredo Ciccodicola Sandro Banfi

Eur J Hum Genet 2003 Feb;11(2):155-62

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

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February 2003

Human chromosome 21 gene expression atlas in the mouse.

Authors:
Alexandre Reymond Valeria Marigo Murat B Yaylaoglu Antonio Leoni Catherine Ucla Nathalie Scamuffa Cristina Caccioppoli Emmanouil T Dermitzakis Robert Lyle Sandro Banfi Gregor Eichele Stylianos E Antonarakis Andrea Ballabio

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

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Authors:
Ivan Conte Marta Lestingi Anneke den Hollander Maria Giuseppina Miano Giovanna Alfano Diego Circolo Mariarosaria Pugliese Francesco Testa Francesca Simonelli Ernesto Rinaldi Montserrat Baiget Sandro Banfi Alfredo Ciccodicola

Gene 2002 Sep;297(1-2):33-8

Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80129, Naples, Italy.

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September 2002

A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation.

Authors:
Giuseppe Saglio Clelia T Storlazzi Emilia Giugliano Cecilia Surace Luisa Anelli Giovanna Rege-Cambrin Antonella Zagaria Antonio Jimenez Velasco Anabel Heiniger Patrizia Scaravaglio Antoni Torres Gomez José Roman Gomez Nicoletta Archidiacono Sandro Banfi Mariano Rocchi

Proc Natl Acad Sci U S A 2002 Jul 11;99(15):9882-7. Epub 2002 Jul 11.

Division of Hematology and Internal Medicine, Department of Clinical and Biological Sciences, University of Turin, 10043 Turin, Italy.

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July 2002

Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma.

Authors:
Anna Maria Barbieri Vania Broccoli Paola Bovolenta Giovanna Alfano Anna Marchitiello Cristina Mocchetti Luca Crippa Alessandro Bulfone Valeria Marigo Andrea Ballabio Sandro Banfi

Development 2002 Feb;129(3):805-13

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

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February 2002