List of works - Sandro Banfi

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

scientific article

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

scientific article

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

scientific article

Proprioceptor pathway development is dependent on Math1.

scientific article published in May 2001

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

scientific article published on 6 March 2013

Human chromosome 21 gene expression atlas in the mouse

scientific article published in December 2002

MicroRNA target prediction by expression analysis of host genes

scientific article published on 16 December 2008

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

scientific article

Identification and characterization of microRNAs expressed in the mouse eye.

scientific article published on February 2007

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

scientific article

miRNeye: a microRNA expression atlas of the mouse eye.

scientific article

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

scientific article

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

scientific article published on September 2007

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

scientific article

miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer.

scientific article published on 25 August 2014

EYA4, a novel vertebrate gene related to Drosophila eyes absent

scientific article

Natural antisense transcripts associated with genes involved in eye development

scientific article

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

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

scientific article

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

scientific article published on 26 January 2016

Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204

scientific article published on March 14, 2013

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

scientific article published on 8 June 2015

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

scientific article published on April 2006

Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium

scientific article

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

scientific article

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

scientific article

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

scientific article

HOCTAR database: A unique resource for microRNA target prediction

scientific article published on March 22, 2011

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).

scientific article published in January 1996

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

scientific article published on 29 July 2011

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

scientific article published on 27 July 2016

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

scientific article published on 27 May 2016

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

scientific article published on 28 November 2013

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

scientific article

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

scientific article published on 7 February 2013

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

scientific article published on 13 September 2014

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

scientific article

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

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

scientific article published on 12 April 2009

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

scientific article published on April 16, 2013

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

scientific article published on 3 June 2014

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

scientific article published on 01 October 2005

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

scientific article

Gene therapy of inherited retinal degenerations: prospects and challenges

scientific article

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

scientific article published on 21 December 2015

A High-Resolution RNA Expression Atlas of Retinitis Pigmentosa Genes in Human and Mouse Retinas

article

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

scientific article

CoGemiR: a comparative genomics microRNA database

scientific article

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

scientific article

A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans

scientific article

List of works by Sandro Banfi

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

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

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

Proprioceptor pathway development is dependent on Math1.

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

Human chromosome 21 gene expression atlas in the mouse

MicroRNA target prediction by expression analysis of host genes

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Identification and characterization of microRNAs expressed in the mouse eye.

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

miRNeye: a microRNA expression atlas of the mouse eye.

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

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

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

miR-340 inhibits tumor cell proliferation and induces apoptosis by targeting multiple negative regulators of p27 in non-small cell lung cancer.

EYA4, a novel vertebrate gene related to Drosophila eyes absent

Natural antisense transcripts associated with genes involved in eye development

Development of a genotyping microarray for Usher syndrome

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

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

Pax6 Regulates Gene Expression in the Vertebrate Lens through miR-204

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

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

Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

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

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

HOCTAR database: A unique resource for microRNA target prediction

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).

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

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

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

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

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

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

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

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

Mutations in IMPG1 cause vitelliform macular dystrophies.

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

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

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

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

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

Gene therapy of inherited retinal degenerations: prospects and challenges

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

A High-Resolution RNA Expression Atlas of Retinitis Pigmentosa Genes in Human and Mouse Retinas

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

CoGemiR: a comparative genomics microRNA database

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

A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans