List of works - Sandro Banfi

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

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

article

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

scientific article

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

scientific article

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

scientific article

A practical guide to orient yourself in the labyrinth of genome databases ⬇️

scientific article published on 01 January 1998

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

scientific article

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

scientific article published on 27 May 2016

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

scientific article published on April 2006

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

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

scientific article published on 8 March 2005

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

scientific article

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

scientific article published on 28 November 2013

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

scientific article

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

scientific article

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

scientific article published on 20 October 2017

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

scientific article published on September 2007

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

scientific article published in January 1996

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

scientific article

CoGemiR: a comparative genomics microRNA database

scientific article

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

EYA4, a novel vertebrate gene related to Drosophila eyes absent

scientific article

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

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

scientific article

Gene therapy of inherited retinal degenerations: prospects and challenges

scientific article

HOCTAR database: A unique resource for microRNA target prediction ⬇️

scientific article published on March 22, 2011

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

scientific article published on 26 January 2016

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

How to get the best of dbEST

scientific article published on 01 February 1998

Human chromosome 21 gene expression atlas in the mouse

scientific article published in December 2002

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

scientific article published on August 2003

Identification and characterization of microRNAs expressed in the mouse eye.

scientific article published on February 2007

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

scientific article

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

scientific article

Inherited Retinal Dystrophies: the role of gene expression regulators

scientific article

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

scientific article published on 8 June 2016

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

scientific article

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

scientific article published on 10 March 2020

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

scientific article

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

scientific article published on 23 December 2016

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

scientific article published on 8 June 2015

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

scientific article

MicroRNA target prediction by expression analysis of host genes

scientific article published on 16 December 2008

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

scientific article published on 31 May 2019

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

scientific article

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

scientific article published on 21 December 2015

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

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

scientific article

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

scientific article published on 13 September 2014

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

scientific article published on 8 March 2017

Natural antisense transcripts associated with genes involved in eye development

scientific article

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

Non-coding RNAs in retinal development and function

scientific article published on 05 September 2018

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

scientific article published on April 16, 2013

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

scientific article published on 01 October 2005

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

scientific article published on March 14, 2013

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

scientific article

Proprioceptor pathway development is dependent on Math1.

scientific article published in May 2001

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

scientific article

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

scientific article

Screening for POLG1 mutations in a Southern Italian ataxia population

scientific article published on 19 December 2007

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

scientific article published on 13 August 2008

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

scientific article published on 7 December 2015

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

scientific article published on 28 January 2013

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

scientific article

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

scientific article published on 3 June 2014

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

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

scientific article published on 13 October 2005

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

scientific article published on 12 April 2009

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

scientific article

Very late onset in ataxia oculomotor apraxia type I

scientific article published on 01 May 2005

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

scientific article published on 27 February 2015

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

scientific article published on 01 May 2019

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

scientific article

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

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

miRNeye: a microRNA expression atlas of the mouse eye.

scientific article

List of works by Sandro Banfi

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

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

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

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

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

A practical guide to orient yourself in the labyrinth of genome databases ⬇️

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

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

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

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

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

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

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

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

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

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

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

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

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

CoGemiR: a comparative genomics microRNA database

Development of a genotyping microarray for Usher syndrome

EYA4, a novel vertebrate gene related to Drosophila eyes absent

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

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

Gene therapy of inherited retinal degenerations: prospects and challenges

HOCTAR database: A unique resource for microRNA target prediction ⬇️

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

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

How to get the best of dbEST

Human chromosome 21 gene expression atlas in the mouse

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

Identification and characterization of microRNAs expressed in the mouse eye.

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

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

Inherited Retinal Dystrophies: the role of gene expression regulators

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

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

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

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

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

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

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

MicroRNA target prediction by expression analysis of host genes

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

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

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

Mutations in IMPG1 cause vitelliform macular dystrophies.

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

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

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

Natural antisense transcripts associated with genes involved in eye development

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

Non-coding RNAs in retinal development and function

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

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

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

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

Proprioceptor pathway development is dependent on Math1.

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

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

Screening for POLG1 mutations in a Southern Italian ataxia population

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

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

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

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

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

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

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

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

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

Very late onset in ataxia oculomotor apraxia type I

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

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

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

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

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

miRNeye: a microRNA expression atlas of the mouse eye.