Lista de obras - Sandro Banfi - Dominio Público Uruguay

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

artículo científico publicado en 2002

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

artículo científico publicado en 1999

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

artículo científico publicado en 2010

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

artículo científico publicado en 1997

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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 1996

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

artículo científico publicado en 2000

CoGemiR: a comparative genomics microRNA database

artículo científico publicado en 2008

Development of a genotyping microarray for Usher syndrome

artículo científico publicado en 2006

EYA4, a novel vertebrate gene related to Drosophila eyes absent

artículo científico publicado en 1999

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Gene therapy of inherited retinal degenerations: prospects and challenges

artículo científico publicado en 2015

HOCTAR database: A unique resource for microRNA target prediction ⬇️

artículo científico publicado el 22 de marzo de 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

How to get the best of dbEST

artículo científico publicado en 1998

Human chromosome 21 gene expression atlas in the mouse

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Identification and characterization of microRNAs expressed in the mouse eye.

artículo científico publicado en 2007

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

artículo científico publicado en 1996

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

artículo científico publicado en 2012

Inherited Retinal Dystrophies: the role of gene expression regulators

artículo científico publicado en 2015

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

artículo científico publicado en 2016

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

artículo científico publicado en 1999

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

MicroRNA target prediction by expression analysis of host genes

artículo científico

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Mutations in IMPG1 cause vitelliform macular dystrophies.

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Natural antisense transcripts associated with genes involved in eye development

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

artículo científico publicado el 16 de abril de 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 ⬇️

artículo científico publicado el 14 de marzo de 2013

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

artículo científico publicado en 2004

Proprioceptor pathway development is dependent on Math1.

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Very late onset in ataxia oculomotor apraxia type I

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

miRNeye: a microRNA expression atlas of the mouse eye.

artículo científico publicado en 2010

Lista de obras de 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.