Lista de obras - Adamo Pio d'Adamo - Dominio Público Uruguay

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

artículo científico publicado en 2015

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family

artículo científico publicado en 2003

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

artículo científico publicado en 2013

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

artículo científico publicado en 2004

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

artículo científico publicado en 2013

Age-related hearing loss in four Italian genetic isolates: an epidemiological study.

artículo científico publicado en 2009

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family

article

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

artículo científico publicado en 2013

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

artículo científico publicado en 2005

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

artículo científico publicado en 2004

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

artículo científico publicado en 2018

Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism.

artículo científico publicado en 2015

Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis

artículo científico publicado en 2016

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family

artículo científico publicado en 2002

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

artículo científico publicado en 2015

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

artículo científico publicado en 2008

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

scientific article published on 19 December 2013

Detection of epidermal thickening in GJB2 carriers with epidermal US.

artículo científico publicado en 2009

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

article

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

artículo científico publicado en 2004

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

artículo científico publicado en 2014

Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment.

artículo científico

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic determinants for methotrexate response in juvenile idiopathic arthritis

artículo científico publicado en 2015

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

artículo científico publicado en 2002

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

artículo científico publicado en 2014

Genetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection.

artículo científico publicado en 2009

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide meta-analysis of common variant differences between men and women

artículo científico publicado en 2012

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

artículo científico publicado en 2011

Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset

artículo científico publicado en 2019

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

artículo científico publicado en 2021

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

artículo científico publicado en 2006

Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up

artículo científico publicado en 2020

Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological

article

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

article

Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis

scientific article published on 28 March 2014

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

artículo científico publicado en 2007

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

artículo científico publicado en 2013

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.

artículo científico publicado en 2008

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

artículo científico publicado en 2013

Notch Signaling Regulation in Autoinflammatory Diseases

artículo científico publicado en 2020

Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient

artículo científico publicado en 2017

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

artículo científico publicado en 2003

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

artículo científico publicado en 2014

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

artículo científico publicado en 2015

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.

artículo científico publicado en 2015

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

artículo científico publicado en 2015

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

artículo científico publicado en 2022

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

artículo científico publicado en 2014

Variation of hemoglobin levels in normal Italian populations from genetic isolates

article

Whole-Genome Methylation Study of Congenital Lung Malformations in Children

artículo científico publicado en 2021

Lista de obras de Adamo Pio d'Adamo

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Age-related hearing loss in four Italian genetic isolates: an epidemiological study.

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism.

Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Genetic determinants for methotrexate response in juvenile idiopathic arthritis

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

Genetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection.

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Genome-wide meta-analysis of common variant differences between men and women

Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways

Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up

Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population

Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Notch Signaling Regulation in Autoinflammatory Diseases

Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Seventy-five genetic loci influencing the human red blood cell

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

Variation of hemoglobin levels in normal Italian populations from genetic isolates

Whole-Genome Methylation Study of Congenital Lung Malformations in Children