Lista de obras - Ricardo Fujita - Dominio Público Uruguay

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

artículo científico publicado en 1992

A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia

scientific article published on 01 March 1997

A new subhaplogroup of native American Y-Chromosomes from the Andes

artículo científico publicado en 2011

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

artículo científico publicado en 1998

A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1

artículo científico publicado el 5 de diciembre de 1995

Alu-vector PCR with biotinylated primers to isolate YAC ends ready for sequencing

scientific article published on 01 May 1995

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

artículo científico publicado en 1997

Angiotensin-Converting Enzyme (ACE) genetic variation and longevity in Peruvian older people: a cross-sectional study

scientific article published on 13 April 2020

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

artículo científico publicado en 1998

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype

artículo científico publicado en 1998

Complement Receptor 1 availability on red blood cell surface modulates Plasmodium vivax invasion of human reticulocytes ⬇️

artículo científico publicado en 2019

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

artículo científico publicado en 1989

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13

artículo científico publicado en 1995

Dinucleotide repeat polymorphism at the DXS977 locus.

artículo científico publicado en 1994

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

scientific article published on 01 September 1997

Diversity in immunogenomics: the value and the challenge

artículo científico publicado en 2021

Enclaves of genetic diversity resisted Inca impacts on population history

artículo científico publicado en 2017

Erratum: New native South American Y chromosome lineages

scientific article published on 01 July 2016

Extreme high prevalence of a defective mannose-binding lectin (MBL2) genotype in native South American West Andean populations.

artículo científico publicado en 2014

Failure to obtain hybridomas between human macrophages and human tumoral U-937 cells is probably due to parental macrophages

artículo científico publicado en 1993

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

scientific article published on 01 February 2001

Frequencies of Blood Group Systems MNS, Diego, and Duffy and Clinical Phases of Carrion's Disease in Amazonas, Peru

artículo científico publicado en 2014

Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.

artículo científico publicado en 1990

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes ⬇️

artículo científico publicado el 1 de marzo de 1992

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

article

Genetic ancestry of families of putative Inka descent.

artículo científico publicado en 2018

Genetics and genomics in Peru: Clinical and research perspective

article

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

artículo científico publicado en 2016

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

artículo científico publicado en 2014

Histone H4 mRNA is stored as a small cytoplasmic RNP during the G2 phase in Physarum polycephalum

scientific article published on 01 May 1988

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9

artículo científico publicado en 1991

Mannose-binding lectin and its genetic variants.

artículo científico publicado en 2006

Molecular characterization of two forms of nontoxic-nonhemagglutinin components of Clostridium botulinum type A progenitor toxins.

artículo científico publicado en 1995

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

artículo científico publicado en 2017

Mutational profile of KIT and PDGFRA genes in gastrointestinal stromal tumors in Peruvian samples

artículo científico publicado en 2015

New native South American Y chromosome lineages.

artículo científico publicado en 2016

Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population

artículo científico publicado en 2012

Peruvian horse sickness virus and Yunnan orbivirus, isolated from vertebrates and mosquitoes in Peru and Australia

artículo científico publicado en 2009

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene ⬇️

artículo científico publicado el 1 de noviembre de 1998

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

scientific article published on 01 July 1997

Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America

artículo científico publicado en 2019

Prenatal diagnosis of Friedreich ataxia

artículo científico publicado en 1990

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

artículo científico publicado en 1999

RPGR: part one of the X-linked retinitis pigmentosa story

artículo científico publicado el 4 de junio de 1996

Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.

artículo científico publicado en 2008

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

artículo científico publicado en 1997

The Current Genomic Landscape of Western South America: Andes, Amazonia, and Pacific Coast

scientific article published on 01 December 2019

The Genetic History of Peruvian Quechua-Lamistas and Chankas: Uniparental DNA Patterns among Autochthonous Amazonian and Andean Populations

artículo científico publicado en 2016

The genetic history of indigenous populations of the Peruvian and Bolivian Altiplano: the legacy of the Uros

artículo científico publicado en 2013

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12. ⬇️

artículo científico publicado en 2009

Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors

artículo científico publicado en 2013

Variation in optineurin (OPTN) allele frequencies between and within populations

artículo científico publicado en 2007

Y Chromosome Sequences Reveal a Short Beringian Standstill, Rapid Expansion, and early Population structure of Native American Founders

artículo científico publicado en 2018

[11]Isolation of candidate genes for inherited diseases: Application to X-linked retinal degenerations

article

[Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification]

scientific article published on 01 July 2019

[Molecular and genetic features of gastrointestinal stromal tumors (GIST)]

artículo científico publicado en 2012

Lista de obras de Ricardo Fujita

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia

A new subhaplogroup of native American Y-Chromosomes from the Andes

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1

Alu-vector PCR with biotinylated primers to isolate YAC ends ready for sequencing

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

Angiotensin-Converting Enzyme (ACE) genetic variation and longevity in Peruvian older people: a cross-sectional study

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype

Complement Receptor 1 availability on red blood cell surface modulates Plasmodium vivax invasion of human reticulocytes ⬇️

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13

Dinucleotide repeat polymorphism at the DXS977 locus.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

Diversity in immunogenomics: the value and the challenge

Enclaves of genetic diversity resisted Inca impacts on population history

Erratum: New native South American Y chromosome lineages

Extreme high prevalence of a defective mannose-binding lectin (MBL2) genotype in native South American West Andean populations.

Failure to obtain hybridomas between human macrophages and human tumoral U-937 cells is probably due to parental macrophages

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

Frequencies of Blood Group Systems MNS, Diego, and Duffy and Clinical Phases of Carrion's Disease in Amazonas, Peru

Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes ⬇️

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

Genetic ancestry of families of putative Inka descent.

Genetics and genomics in Peru: Clinical and research perspective

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

Histone H4 mRNA is stored as a small cytoplasmic RNP during the G2 phase in Physarum polycephalum

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9

Mannose-binding lectin and its genetic variants.

Molecular characterization of two forms of nontoxic-nonhemagglutinin components of Clostridium botulinum type A progenitor toxins.

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Mutational profile of KIT and PDGFRA genes in gastrointestinal stromal tumors in Peruvian samples

New native South American Y chromosome lineages.

Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population

Peruvian horse sickness virus and Yunnan orbivirus, isolated from vertebrates and mosquitoes in Peru and Australia

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene ⬇️

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America

Prenatal diagnosis of Friedreich ataxia

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

RPGR: part one of the X-linked retinitis pigmentosa story

Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

The Current Genomic Landscape of Western South America: Andes, Amazonia, and Pacific Coast

The Genetic History of Peruvian Quechua-Lamistas and Chankas: Uniparental DNA Patterns among Autochthonous Amazonian and Andean Populations

The genetic history of indigenous populations of the Peruvian and Bolivian Altiplano: the legacy of the Uros

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12. ⬇️

Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors

Variation in optineurin (OPTN) allele frequencies between and within populations

Y Chromosome Sequences Reveal a Short Beringian Standstill, Rapid Expansion, and early Population structure of Native American Founders

[11]Isolation of candidate genes for inherited diseases: Application to X-linked retinal degenerations

[Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification]

[Molecular and genetic features of gastrointestinal stromal tumors (GIST)]