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List of works by Andrea Novelletto

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

scientific article published on 01 January 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

scientific article

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

scientific article published on 10 May 2018

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

scientific article

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

scientific article published in September 2006

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

scientific article (publication date: July 2001)

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

scientific article published on 7 November 2007

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

scientific article

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

scientific article published on 9 January 2014

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

scientific article

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

scientific article

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

scientific article published on January 1997

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

scientific article published in July 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.

scientific article

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

scientific article

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

scientific article published in June 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

scientific article (publication date: September 2003)

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

scientific article published on 23 May 2008

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

scientific article

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

scientific article

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

scientific article (publication date: 28 October 2015)

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

scientific article published in February 2018

Epidemiological and linkage studies on Huntington's disease in Italy

scientific article published in July 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.

scientific article

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

scientific article

Frequency and molecular types of deletional alpha-thalassemia in Egypt

scientific article

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

scientific article published on January 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

scientific article

Genetic structure of pastoral and farmer populations in the African Sahel

scientific article published on 24 March 2011

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

scientific article

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

scientific article published on 26 March 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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 July 2017

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

scientific article (publication date: 19 May 2015)

Linkage exclusion in Italian families with hereditary essential tremor

scientific article

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.

scientific article published in January 1991

Molecular characterization of beta-thalassemia mutations in Egypt

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on September 1998

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

scientific article

Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band

scientific article published on 01 January 1996

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Population structure in the Mediterranean basin: a Y chromosome perspective

scientific article (publication date: March 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

scientific article published in September 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 November 2016

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

scientific article

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

scientific article published on 01 March 2006

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

scientific article

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.

scientific article

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

scientific article

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

scientific article

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

scientific article

The landscape of Y chromosome polymorphisms in Russia.

scientific article published in June 2010

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

scientific article published on 12 February 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on March 2007

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

scientific article (publication date: March 2012)

Y-chromosomal variation in the Czech Republic

scientific article

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