Lista de obras - Andrea Novelletto - Dominio Público Uruguay

A Further Case ofGγ-β+Hereditary Persistence of HB F Associated to the -202 CG Mutation in theGγ Promoter Region

artículo científico publicado en 1987

A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

scientific article published on 01 January 1990

A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster

artículo científico publicado en 1989

A finely resolved phylogeny of Y chromosome Hg J illuminates the processes of Phoenician and Greek colonizations in the Mediterranean.

artículo científico publicado en 2018

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

artículo científico publicado en 2003

A human derived SSADH coding variant is replacing the ancestral allele shared with primates

artículo científico publicado en 2006

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

artículo científico publicado en 2001

A novel sampling design to explore gene-longevity associations: the ECHA study

artículo científico publicado en 2007

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa

artículo científico publicado en 2004

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

artículo científico publicado en 2014

A signal, from human mtDNA, of postglacial recolonization in Europe

artículo científico publicado en 2001

An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa

artículo científico publicado en 2014

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

artículo científico publicado en 1997

Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia.

artículo científico publicado en 2002

Analysis of β-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation

article

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

artículo científico publicado en 2012

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

article

Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology

artículo científico publicado en 1997

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

article

Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects

artículo científico publicado en 2003

Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.

artículo científico publicado en 2008

Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations

artículo científico publicado en 1999

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

Construction of a YAC Contig Covering Human Chromosome 6p22

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

artículo científico publicado en 2015

Enlarging the gene-geography of Europe and the Mediterranean area to STR loci of common forensic use: longitudinal and latitudinal frequency gradients

artículo científico publicado en 2018

Epidemiological and linkage studies on Huntington's disease in Italy

artículo científico publicado en 1990

Erratum

scholarly article published in Italian journal of neurological sciences

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

artículo científico publicado en 2004

Family and molecular data for a fine analysis of age at onset in Huntington disease.

artículo científico publicado en 2000

Frequency and molecular types of deletional alpha-thalassemia in Egypt

artículo científico publicado en 1989

Frequency and types of deletional alpha+-thalassemia in northern Sardinia

artículo científico publicado en 1985

Genetic characterization of central Mediterranean stocks of the loggerhead turtle (Caretta caretta) using mitochondrial and nuclear markers, and conservation implications

article published in 2013

Genetic characterization of the body attributed to the evangelist Luke

artículo científico publicado en 2001

Genetic structure of pastoral and farmer populations in the African Sahel

artículo científico publicado en 2011

Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock

artículo científico publicado en 2012

Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure

artículo científico publicado en 2014

Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region

artículo científico publicado en 2014

Identification and phylogenetic position of Naegleria spp. from geothermal springs in Italy

artículo científico publicado en 2017

Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father-son transmissions

artículo científico publicado en 2005

Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data

artículo científico publicado en 2007

Internal diversification of non-Sub-Saharan haplogroups in Sahelian populations and the spread of pastoralism beyond the Sahara.

artículo científico publicado en 2017

Large-scale recent expansion of European patrilineages shown by population resequencing

artículo científico publicado en 2015

Linkage exclusion in Italian families with hereditary essential tremor

artículo científico publicado en 2011

Loggerhead turtle (Caretta caretta) matrilines in the Mediterranean: further evidence of genetic diversity and connectivity

article

Mapping of cosmid clones in Huntington's disease region of chromosome 4.

artículo científico publicado en 1991

Molecular characterization of beta-thalassemia mutations in Egypt

artículo científico publicado en 1990

Multiple advantageous amino acid variants in the NAT2 gene in human populations

artículo científico publicado en 2008

Multiple and differentiated contributions to the male gene pool of pastoral and farmer populations of the African Sahel

artículo científico publicado en 2013

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

artículo científico publicado en 2003

Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.

artículo científico publicado en 1998

New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain).

artículo científico publicado en 2014

Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band

artículo científico publicado en 1996

Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes

artículo científico publicado en 2014

Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent

artículo científico publicado en 2015

Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa

artículo científico publicado en 2004

Polymorphism in Mitochondrial Coding Regions of Mediterranean Loggerhead Turtles: Evolutionary Relevance and Structural Effects

artículo científico publicado en 2016

Polymorphism of Erythrocyte Galactose-1-Phosphate Uridyl-Transf erase in Italy: Segregation Analysis in 693 Families

article

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Population structure in the Mediterranean basin: a Y chromosome perspective

artículo científico publicado en 2006

Population variation analysis at nine loci containing expressed trinucleotide repeats

scientific article published on 01 September 1997

Recurrent mutation in SNPs within Y chromosome E3b (E-M215) haplogroup: a rebuttal

artículo científico publicado en 2008

Regional Differences in the Accumulation of SNPs on the Male-Specific Portion of the Human Y Chromosome Replicate Autosomal Patterns: Implications for Genetic Dating

artículo científico publicado en 2015

SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions

artículo científico publicado en 2006

Searching the peopling of the Iberian Peninsula from the perspective of two andalusian subpopulations: a study based on Y-chromosome haplogroups J and E.

artículo científico publicado en 2010

Secular changes of the sex-ratio of stillbirths and early deaths in Italy: Evidence for postponement of male specific risk

article

Spatially Explicit Models to Investigate Geographic Patterns in the Distribution of Forensic STRs: Application to the North-Eastern Mediterranean

artículo científico publicado en 2016

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

artículo científico publicado en 2002

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

artículo científico publicado en 2006

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

The Andalusian population from Huelva reveals a high diversification of Y-DNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space.

artículo científico publicado en 2010

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

artículo científico publicado en 2014

The coming of the Greeks to Provence and Corsica: Y-chromosome models of archaic Greek colonization of the western Mediterranean

artículo científico publicado en 2011

The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean

artículo científico publicado en 2017

The landscape of Y chromosome polymorphisms in Russia.

artículo científico publicado en 2010

The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages

artículo científico publicado en 2018

Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12

artículo científico publicado en 2007

Trinucleotide repeat length instability and age of onset in Huntington's disease

artículo científico publicado en 1993

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

artículo científico publicado en 1998

Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe

artículo científico publicado en 2004

Y chromosome variation in Europe: continental and local processes in the formation of the extant gene pool

artículo científico publicado en 2007

Y-STR genetic diversity in autochthonous Andalusians from Huelva and Granada provinces (Spain)

artículo científico publicado en 2012

Y-chromosomal variation in the Czech Republic

artículo científico publicado en 2007

Lista de obras de Andrea Novelletto

A Further Case ofGγ-β+Hereditary Persistence of HB F Associated to the -202 CG Mutation in theGγ Promoter Region

A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster

A finely resolved phylogeny of Y chromosome Hg J illuminates the processes of Phoenician and Greek colonizations in the Mediterranean.

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

A human derived SSADH coding variant is replacing the ancestral allele shared with primates

A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area

A novel sampling design to explore gene-longevity associations: the ECHA study

A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

A signal, from human mtDNA, of postglacial recolonization in Europe

An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia.

Analysis of β-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology

Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD)

Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects

Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.

Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

Construction of a YAC Contig Covering Human Chromosome 6p22

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm

Enlarging the gene-geography of Europe and the Mediterranean area to STR loci of common forensic use: longitudinal and latitudinal frequency gradients

Epidemiological and linkage studies on Huntington's disease in Italy

Erratum

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

Family and molecular data for a fine analysis of age at onset in Huntington disease.

Frequency and molecular types of deletional alpha-thalassemia in Egypt

Frequency and types of deletional alpha+-thalassemia in northern Sardinia

Genetic characterization of central Mediterranean stocks of the loggerhead turtle (Caretta caretta) using mitochondrial and nuclear markers, and conservation implications

Genetic characterization of the body attributed to the evangelist Luke

Genetic structure of pastoral and farmer populations in the African Sahel

Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock

Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure

Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region

Identification and phylogenetic position of Naegleria spp. from geothermal springs in Italy

Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father-son transmissions

Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data

Internal diversification of non-Sub-Saharan haplogroups in Sahelian populations and the spread of pastoralism beyond the Sahara.

Large-scale recent expansion of European patrilineages shown by population resequencing

Linkage exclusion in Italian families with hereditary essential tremor

Loggerhead turtle (Caretta caretta) matrilines in the Mediterranean: further evidence of genetic diversity and connectivity

Mapping of cosmid clones in Huntington's disease region of chromosome 4.

Molecular characterization of beta-thalassemia mutations in Egypt

Multiple advantageous amino acid variants in the NAT2 gene in human populations

Multiple and differentiated contributions to the male gene pool of pastoral and farmer populations of the African Sahel

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Network analyses of Y-chromosomal types in Europe, northern Africa, and western Asia reveal specific patterns of geographic distribution.

New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain).

Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band

Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes

Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent

Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa

Polymorphism in Mitochondrial Coding Regions of Mediterranean Loggerhead Turtles: Evolutionary Relevance and Structural Effects

Polymorphism of Erythrocyte Galactose-1-Phosphate Uridyl-Transf erase in Italy: Segregation Analysis in 693 Families

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Population structure in the Mediterranean basin: a Y chromosome perspective

Population variation analysis at nine loci containing expressed trinucleotide repeats

Recurrent mutation in SNPs within Y chromosome E3b (E-M215) haplogroup: a rebuttal

Regional Differences in the Accumulation of SNPs on the Male-Specific Portion of the Human Y Chromosome Replicate Autosomal Patterns: Implications for Genetic Dating

SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions

Searching the peopling of the Iberian Peninsula from the perspective of two andalusian subpopulations: a study based on Y-chromosome haplogroups J and E.

Secular changes of the sex-ratio of stillbirths and early deaths in Italy: Evidence for postponement of male specific risk

Spatially Explicit Models to Investigate Geographic Patterns in the Distribution of Forensic STRs: Application to the North-Eastern Mediterranean

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

The Andalusian population from Huelva reveals a high diversification of Y-DNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space.

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

The coming of the Greeks to Provence and Corsica: Y-chromosome models of archaic Greek colonization of the western Mediterranean

The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean

The landscape of Y chromosome polymorphisms in Russia.

The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages

Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12

Trinucleotide repeat length instability and age of onset in Huntington's disease