List of works - Valentino Romano

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

scientific article

A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

scientific article published in February 2001

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

scientific article published on September 2008

Ancient human genomes suggest three ancestral populations for present-day Europeans

scientific article

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation

scientific article

Association between haplotypes, Hind III-VNTR alleles and mutations at the PAH locus in Sicily

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

scientific article

Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).

scientific article

Carrier screening for spinal muscular atrophy in Italian population

article

Cell line DNA typing in forensic genetics--the necessity of reliable standards

scientific article published on December 2003

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

scientific article

Chromosomal mapping of human cytokeratin 13 gene (KRT13).

scientific article

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients ⬇️

scientific article published on April 12, 2013

Continental and subcontinental distributions of mtDNA control region types

scientific article

Cytokeratin expression in simple epithelia

scientific article (publication date: December 1986)

Cytokeratin expression in simple epithelia

Cytokeratin expression in simple epithelia. I. Identification of mRNA coding for human cytokeratin no. 18 by a cDNA clone

scientific article

DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting

scientific article

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

scientific article

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding

scientific article published on April 2010

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

scientific article published in April 2003

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes

scientific article

Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region

scientific article (publication date: September 2001)

Identification of two new phenylalanine hydroxylase alleles in Sicilian phenylketonuric families

scientific article published on 01 January 1993

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

scientific article published in August 2003

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304.

scientific article

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

article

Molecular analysis of aldolase B genes in hereditary fructose intolerance

scientific article

Molecular basis of mild hyperphenylalaninaemia in Turkey

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

scientific article

MtDNA control region and RFLP data for Sicily and France

scientific article

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

scientific article published on 7 January 2013

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

scientific article published on 9 November 2016

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

scientific article published on 01 October 1993

Nebulin and titin expression in Duchenne muscular dystrophy appears normal

scientific article published on 01 November 1987

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities

scientific article published on 08 June 2021

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

article

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis

scientific article published in November 2001

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

scientific article published on 01 October 1995

Population structure in the Mediterranean basin: a Y chromosome perspective

scientific article (publication date: March 2006)

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

scientific article published on July 1996

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

article

RFLP analysis in 5 Sicilian families with the fragile X syndrome ⬇️

scientific article published on 01 February 1991

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

scientific article published in September 2006

Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization

scientific article

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

scientific article published in June 2005

The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

scientific article

The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

scientific article published in September 1997

The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria

scientific article published in May 2003

The phenylketonuria mouse model: a meeting review

scientific article

Timing of a back-migration into Africa

scientific article

Two novel PAH gene mutations detected in Italian phenylketonuric patients

article

Y-chromosomal STR haplotypes in Sicily

scientific article published on 28 June 2005

List of works by Valentino Romano

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

Ancient human genomes suggest three ancestral populations for present-day Europeans

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation

Association between haplotypes, Hind III-VNTR alleles and mutations at the PAH locus in Sicily

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).

Carrier screening for spinal muscular atrophy in Italian population

Cell line DNA typing in forensic genetics--the necessity of reliable standards

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

Chromosomal mapping of human cytokeratin 13 gene (KRT13).

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients ⬇️

Continental and subcontinental distributions of mtDNA control region types

Cytokeratin expression in simple epithelia

Cytokeratin expression in simple epithelia

Cytokeratin expression in simple epithelia. I. Identification of mRNA coding for human cytokeratin no. 18 by a cDNA clone

DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes

Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region

Identification of two new phenylalanine hydroxylase alleles in Sicilian phenylketonuric families

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304.

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

Molecular analysis of aldolase B genes in hereditary fructose intolerance

Molecular basis of mild hyperphenylalaninaemia in Turkey

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

MtDNA control region and RFLP data for Sicily and France

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

Nebulin and titin expression in Duchenne muscular dystrophy appears normal

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

Population structure in the Mediterranean basin: a Y chromosome perspective

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

RFLP analysis in 5 Sicilian families with the fragile X syndrome ⬇️

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria

The phenylketonuria mouse model: a meeting review

Timing of a back-migration into Africa

Two novel PAH gene mutations detected in Italian phenylketonuric patients

Y-chromosomal STR haplotypes in Sicily

mtDNA analysis of the human remains buried in the sarcophagus of Federico II