Lista de obras -

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

artículo científico publicado en 2007

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

artículo científico publicado en 2019

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

artículo científico publicado en 2020

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

artículo científico publicado en 2017

Autosomal dominant restless legs syndrome maps on chromosome 14q.

artículo científico publicado en 2003

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

artículo científico publicado en 2014

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

artículo científico publicado en 2013

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

artículo científico publicado en 2015

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

artículo científico publicado en 2020

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

scientific article published on 01 June 2019

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

artículo científico publicado en 2007

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

artículo científico publicado en 2002

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

artículo científico publicado en 2015

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

artículo científico publicado en 2015

Genetics in restless legs syndrome

artículo científico publicado en 2004

Heritability of blood pressure through latent curve trajectories in families from the Gubbio population study

artículo científico publicado en 2014

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

artículo científico publicado en 2018

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

artículo científico publicado en 2022

Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes

scientific article published on 15 October 2019

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

artículo científico publicado en 2017

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

artículo científico publicado en 2002

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation

artículo científico publicado en 2006

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

scientific article published on 24 July 2019

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

artículo científico

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

artículo científico publicado en 2020

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

artículo científico publicado en 2010

Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations

artículo científico publicado en 2005

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

artículo científico publicado en 2017

Lista de obras de

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Autosomal dominant restless legs syndrome maps on chromosome 14q.

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

Genetics in restless legs syndrome

Heritability of blood pressure through latent curve trajectories in families from the Gubbio population study

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype

Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.

Trisomy 15q25.2-qter in an autistic child: Genotype-phenotype correlations

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.