Lista de obras - Carlo Rivolta - Dominio Público Uruguay

A 35.7 kb DNA fragment from the Bacillus subtilis chromosome containing a putative 12.3 kb operon involved in hexuronate catabolism and a perfectly symmetrical hypothetical catabolite-responsive element

artículo científico publicado en 1998

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

artículo científico publicado en 2016

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

artículo científico publicado en 2019

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

artículo científico publicado en 2015

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

artículo científico publicado en 2011

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

artículo científico publicado en 2015

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

artículo científico publicado en 2022

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

A novel protein kinase that controls carbon catabolite repression in bacteria

artículo científico publicado en 1998

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

artículo científico publicado en 2009

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

artículo científico publicado en 2022

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

artículo científico publicado en 2015

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

artículo científico publicado en 2022

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

artículo científico publicado en 2021

Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.

artículo científico publicado en 1999

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

artículo científico publicado en 2002

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

artículo científico publicado en 2016

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

artículo científico publicado en 2021

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

artículo científico publicado en 2012

Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome

artículo científico publicado en 2012

Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds ⬇️

artículo científico publicado en 2014

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.

artículo científico publicado en 2016

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

artículo científico publicado en 2004

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

artículo científico publicado en 2016

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

artículo científico publicado en 2008

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

scientific journal article

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX ⬇️

artículo científico publicado el 1 de diciembre de 2001

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

artículo científico publicado en 2013

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

artículo científico publicado en 2017

Essential Bacillus subtilis genes

artículo científico publicado en 2003

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

artículo científico publicado en 2003

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

artículo científico publicado en 2014

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

artículo científico publicado en 2013

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

artículo científico publicado en 2019

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

artículo científico publicado en 2012

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

artículo científico publicado en 2012

Genetic and physical maps of the Bacillus subtilis chromosome

artículo científico publicado en 1999

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina.

artículo científico publicado en 2014

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

artículo científico publicado en 2011

Genomic and transcriptomic landscape of conjunctival melanoma

artículo científico publicado en 2020

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

artículo científico publicado en 2015

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis

artículo científico publicado en 2012

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

artículo científico publicado en 2015

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

artículo científico publicado en 2015

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

artículo científico publicado en 2016

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

artículo científico publicado en 2015

Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration

scientific article published in Nature Communications

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

artículo científico publicado en 2000

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

artículo científico publicado en 2014

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

artículo científico publicado en 2012

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.

artículo científico publicado en 2009

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases

artículo científico publicado en 2006

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

artículo científico publicado en 2014

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

scientific article published on 19 August 2019

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

scientific journal article

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

artículo científico publicado en 2015

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

artículo científico publicado en 2016

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

artículo científico publicado en 2022

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

artículo científico publicado en 2016

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

artículo científico publicado en 2015

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

artículo científico publicado en 2011

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

scientific article published on 10 December 2020

New variants and in silico analyses in GRK1 associated Oguchi disease

artículo científico publicado en 2020

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

artículo científico publicado en 2011

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

artículo científico publicado en 2010

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

artículo científico publicado en 2014

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

artículo científico publicado en 2001

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

artículo científico publicado en 2016

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

artículo científico publicado en 2013

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

artículo científico publicado en 2011

PRPF31 alternative splicing and expression in human retina

artículo científico publicado en 2009

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

artículo científico publicado en 2002

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

artículo científico publicado en 2008

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

artículo científico publicado en 2002

Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights

artículo científico publicado en 2015

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

artículo científico publicado en 2013

Subunit II of Bacillus subtilis cytochrome c oxidase is a lipoprotein.

artículo científico publicado en 1999

Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene

artículo científico publicado en 2013

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The complete genome sequence of the gram-positive bacterium Bacillus subtilis

artículo científico publicado en 1997

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

The product of the yvoC (gerF) gene of Bacillus subtilis is required for spore germination

artículo científico publicado en 1998

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

artículo científico publicado en 2008

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

artículo científico publicado en 2016

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

artículo científico publicado en 2014

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

artículo científico publicado en 2008

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation

artículo científico publicado en 2015

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

artículo científico publicado en 2009

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region

artículo científico publicado en 2010

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

artículo científico publicado en 2006

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

artículo científico

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

artículo científico publicado en 2013

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

scientific article published on 21 January 2020

c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

artículo científico publicado en 2021

Lista de obras de Carlo Rivolta

A 35.7 kb DNA fragment from the Bacillus subtilis chromosome containing a putative 12.3 kb operon involved in hexuronate catabolism and a perfectly symmetrical hypothetical catabolite-responsive element

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

A novel protein kinase that controls carbon catabolite repression in bacteria

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors.

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome

Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds ⬇️

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX ⬇️

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Essential Bacillus subtilis genes

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

Genetic and physical maps of the Bacillus subtilis chromosome

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina.

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

Genomic and transcriptomic landscape of conjunctival melanoma

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

New variants and in silico analyses in GRK1 associated Oguchi disease

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

PRPF31 alternative splicing and expression in human retina

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits