Lista de obras - Ruedi Fries - Dominio Público Uruguay

A 5× genome coverage bovine BAC library: production, characterization, and distribution

article

A DNA polymorphism influencing alpha(1,2)fucosyltransferase activity of the pig FUT1 enzyme determines susceptibility of small intestinal epithelium to Escherichia coli F18 adhesion.

artículo científico publicado en 2000

A cosmid specific for sequences encoding a microtubule-associated protein, MAP1B, contains a polymorphic microsatellite and maps to bovine chromosome 20q14.

artículo científico publicado en 1998

A deletion in the bovine myostatin gene causes the double–muscled phenotype in cattle ⬇️

artículo científico publicado el 1 de septiembre de 1997

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

artículo científico publicado en 2016

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

artículo científico publicado en 2016

A major genetic component of BSE susceptibility

artículo científico publicado en 2006

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

artículo científico publicado en 2016

A multi-trait meta-analysis with imputed sequence variants reveals twelve QTL for mammary gland morphology in Fleckvieh cattle

artículo científico publicado en 2016

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

artículo científico publicado en 2014

A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle

artículo científico publicado en 2014

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

artículo científico publicado en 2016

A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

artículo científico publicado en 2010

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

artículo científico publicado en 2014

A reciprocal whole-arm translocation, rcp(1;6)(1p6p;1q6q) in a boar, localization of the breakpoints, and reassignment of the genes for glucose phosphate isomerase (GPI) and calcium release channel (CRC)

artículo científico publicado en 1992

ASSESSMENT OF THE NUCLEOTIDE SEQUENCE VARIABILITY IN THE BOVINE T-CELL RECEPTOR ALPHA DELTA JOINING GENE REGION

artículo científico publicado en 2001

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

scientific article published on 14 May 2020

Alleles of the bovine DGAT1 variable number of tandem repeat associated with a milk fat QTL at chromosome 14 can stimulate gene expression

artículo científico publicado en 2006

Application of a Bayesian dominance model improves power in quantitative trait genome-wide association analysis

artículo científico publicado en 2017

Assessment of the gene content of the chromosomal regions flanking bovine DGAT1.

artículo científico publicado en 2004

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

artículo científico publicado en 2013

Assignment 1 of the CALC-A/α-CGRP gene (CALCA) to porcine chromosome SSC2p13→p11 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

artículo científico publicado en 2002

Assignment of the Leydig insulin-like hormone to porcine Chromosome 2q12-q13 by somatic cell hybrid analysis and fluorescence in situ hybridization

artículo científico publicado en 1994

Assignment of the beta-N-acetylhexosaminidase gene (HEXB) to porcine chromosome SSC2q21-->q22 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13-->q14 by in situ hybridization and analysis of radiation hybrid panels.

artículo científico publicado en 2003

Assignment of the ovine uroporphyrinogen decarboxylase (UROD) gene to chromosome 1p34→p36 by fluorescence in situ hybridization

artículo científico publicado en 2004

Assignment of the porcine hyaluronidase-3 (HYAL3) gene to SSC13q21 by FISH and confirmation by hybrid panel analyses

artículo científico publicado en 2003

Assignment of the porcine major histocompatibility complex to chromosome 7 by in situ hybridization

artículo científico publicado en 1985

Assignment of the porcine stearoyl-CoA desaturase (SCD) gene to SSC14q27 by fluorescence in situ hybridization and by hybrid panel mapping.

artículo científico publicado en 2003

Assignment of the β-N-acetylhexosaminidase gene (HEXB) to porcine chromosome SSC2q21→q22 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

artículo científico publicado en 2003

Assignment of the β-glucuronidase (GUSB) gene to porcine chromosome SSC3p16→p14 by FISH and confirmation by hybrid panel analyses

artículo científico publicado en 2002

Association of MC3R gene polymorphisms with body weight in the red fox and comparative gene organization in four canids.

artículo científico publicado en 2011

Association of a lysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA:diacylglycerol acyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content

artículo científico publicado en 2002

Association of the melanocortin 4 receptor with feed intake and daily gain in F2 Mangalitsa x Pietrain pigs

artículo científico publicado en 2006

Bovine desmocollin genes (DSC1, DSC2, DSC3) cluster on Chromosome 24q21/q22

artículo científico publicado en 1995

Characterization and chromosomal localization of the chicken avidin gene family

artículo científico publicado en 2000

Characterization and chromosome localization of a processed pseudogene related to the bovine laminin receptor gene family

artículo científico publicado en 2004

Characterization of a 320-kb region containing the HEXA gene on bovine chromosome 10 and analysis of its association with BSE susceptibility.

artículo científico publicado en 2008

Characterization of the bovine ampk?1 gene

artículo científico publicado en 2005

Characterization of the porcine AMPK alpha 2 catalytic subunitgene (PRKAA2): genomic structure, polymorphism detection and association study

artículo científico publicado en 2009

Chromosomal localization and molecular characterization of 53 cosmid-derived bovine microsatellites

artículo científico publicado en 1995

Chromosomal localization of the genes encoding SCNN1A, BTG1, IFNG and MAOA on chicken chromosome 1 by fluorescence in-situ hybridization

artículo científico publicado en 2001

Chromosomal mutations in pigs derived from X-irradiated semen

artículo científico publicado en 1982

Classic selective sweeps revealed by massive sequencing in cattle

artículo científico publicado en 2014

Combined Q-banding and fluorescence in situ hybridization for the identification of bovine chromosomes 1 to 7.

artículo científico publicado en 1995

Combining evidence of selection with association analysis increases power to detect regions influencing complex traits in dairy cattle

artículo científico publicado en 2012

Comparative genome map of human and cattle.

artículo científico publicado en 1995

Compilation of a panel of informative single nucleotide polymorphisms for bovine identification in the Northern Irish cattle population ⬇️

artículo científico publicado en 2010

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

artículo científico publicado en 2016

Construction and characterisation of a gridded chicken cosmid library with four-fold genomic coverage.

artículo científico publicado en 1998

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

artículo científico publicado en 2015

Cosmid-derived markers anchoring the bovine genetic map to the physical map

artículo científico publicado en 1997

DGAT1 polymorphism in Bos indicus and Bos taurus cattle breeds

artículo científico publicado en 2004

DGAT1, a new positional and functional candidate gene for intramuscular fat deposition in cattle ⬇️

artículo científico publicado el 1 de octubre de 2003

Detection and characterization of SNPs useful for identity control and parentage testing in major European dairy breeds

artículo científico publicado en 2004

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

artículo científico publicado en 2017

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

artículo científico publicado en 2017

Dissection of genetic factors modulating fetal growth in cattle indicates a substantial role of the non-SMC condensin I complex, subunit G (NCAPG) gene

scientific article published on 31 August 2009

Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)

artículo científico publicado en 2013

Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle

artículo científico publicado en 2017

Evaluation of variant identification methods for whole genome sequencing data in dairy cattle.

artículo científico publicado en 2014

Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle.

artículo científico publicado en 2004

Evolutionarily conserved telomeric location of BBC1 and MC1R on a microchromosome questions the identity of MC1R and a pigmentation locus on chromosome 1 in chicken

artículo científico publicado en 1998

FISH and RH mapping of the bovine alpha (2)/delta calcium channel subunit gene (CACNA2D1).

artículo científico publicado en 2003

Genetics of adaptation in modern chicken.

artículo científico publicado en 2019

Genome-wide association study identifies two major loci affecting calving ease and growth-related traits in cattle

artículo científico publicado en 2010

Genome-wide association study uncovers four QTL predisposing to supernumerary teats in cattle

artículo científico publicado en 2012

Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.

artículo científico publicado en 2005

Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.

artículo científico publicado en 2003

Haplotypes of the porcine peroxisome proliferator-activated receptor delta gene are associated with backfat thickness

artículo científico publicado en 2009

High-resolution, human bovine comparative mapping based on a closed YAC contig spanning the bovine mh locus

artículo científico publicado en 1999

Higher precision level at individual laying performance tests in noncage housing systems

artículo científico publicado en 2013

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

artículo científico publicado en 2015

Identification and dissection of four major QTL affecting milk fat content in the German Holstein-Friesian population

artículo científico publicado en 2012

Identification of QTL for UV-protective eye area pigmentation in cattle by progeny phenotyping and genome-wide association analysis

artículo científico publicado en 2012

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle

artículo científico publicado en 2016

Imputation of high-density genotypes in the Fleckvieh cattle population

artículo científico publicado en 2013

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

artículo científico publicado en 2014

International system for cytogenetic nomenclature of domestic animals. The Second International Conference on Standardization of Domestic Animal Karyotypes, INRA, Jouy-en Josas, France, 22nd-26th May, 1989.

artículo científico publicado en 1990

Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16

artículo científico publicado en 1995

Isolation, sequencing, and expression analysis of a bovine apolipoprotein E (APOE) cDNA and chromosomal localization of the APOE locus

artículo científico publicado en 1993

Male fertility restored by transplanting primordial germ cells into testes: a new way towards efficient transgenesis in chicken.

artículo científico publicado en 2017

Mapping of bovine cytokeratin sequences to four different sites on three chromosomes

artículo científico publicado en 1991

Mapping of bovine markers CYP21, PRL, and BOLA DRBP1 by genetic linkage analysis in reference pedigrees

artículo científico publicado en 1992

Mapping of five members of the cyclin gene family on chicken chromosomes by FISH.

artículo científico publicado en 1998

Mapping of syntenic groups U7 and U27 to bovine Chromosomes 25 and 12, respectively

artículo científico publicado en 1994

Mapping ofCYP11Band a putativeCYHR1paralogous gene to bovine chromosome 14 by FISH

artículo científico publicado en 2004

Maternal placenta modulates a deleterious fetal mutation

artículo científico publicado en 2017

Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals

artículo científico publicado en 2018

Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution.

artículo científico publicado en 2017

Molecular cloning, mapping, and functional analysis of the bovine sulfate transporter SLC26a2 gene

artículo científico publicado en 2003

On the limited increase in validation reliability using high-density genotypes in genomic best linear unbiased prediction: observations from Fleckvieh cattle

artículo científico publicado en 2013

Physical and linkage mapping of the bovine genome with cosmids

artículo científico publicado en 1995

Physically mapped, cosmid-derived microsatellite markers as anchor loci on bovine chromosomes

artículo científico publicado en 1993

Polymorphic CA-microsatellites for the integration of the bovine genetic and physical map.

artículo científico publicado en 1997

Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression

artículo científico publicado en 2017

Postnatal transcription profile and polymorphism of the ADIPOR1 gene in five pig breeds

artículo científico publicado en 2009

RASA contains a polymorphic microsatellite and maps to bovine syntenic group U22 on Chromosome 7q2.4-qter

artículo científico publicado en 1992

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

artículo científico publicado en 2017

Short communication: Evaluation of bovine milk residues from routine milk testing programs as DNA source for genotyping

artículo científico publicado en 2012

Short communication: Genomic prediction using imputed whole-genome sequence variants in Brown Swiss Cattle

artículo científico publicado en 2017

Short communication: Validation of 4 candidate causative trait variants in 2 cattle breeds using targeted sequence imputation

artículo científico publicado en 2015

Structural analysis and transcript processing of the bovine proteolipid protein (PLP) gene.

artículo científico publicado en 2000

The bovine genome contains polymorphic microsatellites

artículo científico publicado en 1990

The bovine genome map.

artículo científico publicado en 1993

The bovine glutamine synthase gene (GLUL) maps to 10q33 and a pseudogene (GLULP) to 16q21.

artículo científico publicado en 1997

The bovine interleukin-4 gene: genomic organization, localization, and evolution

artículo científico publicado en 1995

The bovine lactoferrin gene (LTF) maps to Chromosome 22 and syntenic group U12

artículo científico publicado en 1994

The horse Y chromosome as an informative marker for tracing sire lines

artículo científico publicado en 2019

The loci for parathyroid hormone and ?-globin are closely linked and map to chromosome 15 in cattle

artículo científico publicado en 1988

The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence

artículo científico publicado en 2006

The thyroglobulin gene is syntenic with the MYC and MOS protooncogenes and carbonic anhydrase II and maps to chromosome 14 in cattle

artículo científico publicado en 1990

Two alpha(1,2) fucosyltransferase genes on porcine chromosome 6q11 are closely linked to the blood group inhibitor (S) and Escherichia coli F18 receptor (ECF18R) loci.

artículo científico publicado en 1997

Variation in neighbouring genes of the dopaminergic and serotonergic systems affects feather pecking behaviour of laying hens

artículo científico publicado en 2008

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

artículo científico publicado en 2014

Y Chromosome Uncovers the Recent Oriental Origin of Modern Stallions

artículo científico publicado en 2017

Lista de obras de Ruedi Fries

A 5× genome coverage bovine BAC library: production, characterization, and distribution

A DNA polymorphism influencing alpha(1,2)fucosyltransferase activity of the pig FUT1 enzyme determines susceptibility of small intestinal epithelium to Escherichia coli F18 adhesion.

A cosmid specific for sequences encoding a microtubule-associated protein, MAP1B, contains a polymorphic microsatellite and maps to bovine chromosome 20q14.

A deletion in the bovine myostatin gene causes the double–muscled phenotype in cattle ⬇️

A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A major genetic component of BSE susceptibility

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

A multi-trait meta-analysis with imputed sequence variants reveals twelve QTL for mammary gland morphology in Fleckvieh cattle

A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

A reciprocal whole-arm translocation, rcp(1;6)(1p6p;1q6q) in a boar, localization of the breakpoints, and reassignment of the genes for glucose phosphate isomerase (GPI) and calcium release channel (CRC)

ASSESSMENT OF THE NUCLEOTIDE SEQUENCE VARIABILITY IN THE BOVINE T-CELL RECEPTOR ALPHA DELTA JOINING GENE REGION

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

Alleles of the bovine DGAT1 variable number of tandem repeat associated with a milk fat QTL at chromosome 14 can stimulate gene expression

Application of a Bayesian dominance model improves power in quantitative trait genome-wide association analysis

Assessment of the gene content of the chromosomal regions flanking bovine DGAT1.

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

Assignment 1 of the CALC-A/α-CGRP gene (CALCA) to porcine chromosome SSC2p13→p11 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

Assignment of the Leydig insulin-like hormone to porcine Chromosome 2q12-q13 by somatic cell hybrid analysis and fluorescence in situ hybridization

Assignment of the beta-N-acetylhexosaminidase gene (HEXB) to porcine chromosome SSC2q21-->q22 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13-->q14 by in situ hybridization and analysis of radiation hybrid panels.

Assignment of the ovine uroporphyrinogen decarboxylase (UROD) gene to chromosome 1p34→p36 by fluorescence in situ hybridization

Assignment of the porcine hyaluronidase-3 (HYAL3) gene to SSC13q21 by FISH and confirmation by hybrid panel analyses

Assignment of the porcine major histocompatibility complex to chromosome 7 by in situ hybridization

Assignment of the porcine stearoyl-CoA desaturase (SCD) gene to SSC14q27 by fluorescence in situ hybridization and by hybrid panel mapping.

Assignment of the β-N-acetylhexosaminidase gene (HEXB) to porcine chromosome SSC2q21→q22 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels

Assignment of the β-glucuronidase (GUSB) gene to porcine chromosome SSC3p16→p14 by FISH and confirmation by hybrid panel analyses

Association of MC3R gene polymorphisms with body weight in the red fox and comparative gene organization in four canids.

Association of a lysine-232/alanine polymorphism in a bovine gene encoding acyl-CoA:diacylglycerol acyltransferase (DGAT1) with variation at a quantitative trait locus for milk fat content

Association of the melanocortin 4 receptor with feed intake and daily gain in F2 Mangalitsa x Pietrain pigs

Bovine desmocollin genes (DSC1, DSC2, DSC3) cluster on Chromosome 24q21/q22

Characterization and chromosomal localization of the chicken avidin gene family

Characterization and chromosome localization of a processed pseudogene related to the bovine laminin receptor gene family

Characterization of a 320-kb region containing the HEXA gene on bovine chromosome 10 and analysis of its association with BSE susceptibility.

Characterization of the bovine ampk?1 gene

Characterization of the porcine AMPK alpha 2 catalytic subunitgene (PRKAA2): genomic structure, polymorphism detection and association study

Chromosomal localization and molecular characterization of 53 cosmid-derived bovine microsatellites

Chromosomal localization of the genes encoding SCNN1A, BTG1, IFNG and MAOA on chicken chromosome 1 by fluorescence in-situ hybridization

Chromosomal mutations in pigs derived from X-irradiated semen

Classic selective sweeps revealed by massive sequencing in cattle

Combined Q-banding and fluorescence in situ hybridization for the identification of bovine chromosomes 1 to 7.

Combining evidence of selection with association analysis increases power to detect regions influencing complex traits in dairy cattle

Comparative genome map of human and cattle.

Compilation of a panel of informative single nucleotide polymorphisms for bovine identification in the Northern Irish cattle population ⬇️

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Construction and characterisation of a gridded chicken cosmid library with four-fold genomic coverage.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

Cosmid-derived markers anchoring the bovine genetic map to the physical map

DGAT1 polymorphism in Bos indicus and Bos taurus cattle breeds

DGAT1, a new positional and functional candidate gene for intramuscular fat deposition in cattle ⬇️

Detection and characterization of SNPs useful for identity control and parentage testing in major European dairy breeds

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds

Dissection of genetic factors modulating fetal growth in cattle indicates a substantial role of the non-SMC condensin I complex, subunit G (NCAPG) gene

Ectopic KIT copy number variation underlies impaired migration of primordial germ cells associated with gonadal hypoplasia in cattle (Bos taurus)

Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle

Evaluation of variant identification methods for whole genome sequencing data in dairy cattle.

Evidence for multiple alleles at the DGAT1 locus better explains a quantitative trait locus with major effect on milk fat content in cattle.

Evolutionarily conserved telomeric location of BBC1 and MC1R on a microchromosome questions the identity of MC1R and a pigmentation locus on chromosome 1 in chicken

FISH and RH mapping of the bovine alpha (2)/delta calcium channel subunit gene (CACNA2D1).

Genetics of adaptation in modern chicken.

Genome-wide association study identifies two major loci affecting calving ease and growth-related traits in cattle

Genome-wide association study uncovers four QTL predisposing to supernumerary teats in cattle

Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.

Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.

Haplotypes of the porcine peroxisome proliferator-activated receptor delta gene are associated with backfat thickness

High-resolution, human bovine comparative mapping based on a closed YAC contig spanning the bovine mh locus

Higher precision level at individual laying performance tests in noncage housing systems

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle

Identification and dissection of four major QTL affecting milk fat content in the German Holstein-Friesian population

Identification of QTL for UV-protective eye area pigmentation in cattle by progeny phenotyping and genome-wide association analysis

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle

Imputation of high-density genotypes in the Fleckvieh cattle population

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

International system for cytogenetic nomenclature of domestic animals. The Second International Conference on Standardization of Domestic Animal Karyotypes, INRA, Jouy-en Josas, France, 22nd-26th May, 1989.