Lista de obras - Domenico Coviello - Dominio Público Uruguay

19q13 microdeletion syndrome: Further refining the critical region.

artículo científico publicado en 2012

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

artículo científico publicado en 2013

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

scientific article published on 01 May 1995

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

artículo científico publicado en 1998

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

artículo científico publicado en 2015

A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application

artículo científico publicado en 2016

A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia) ⬇️

artículo científico publicado el 1 de julio de 1992

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness

artículo científico publicado en 2007

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

artículo científico publicado en 2009

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

artículo científico publicado en 2003

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

artículo científico publicado en 2010

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis

artículo científico publicado en 2013

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

artículo científico publicado en 2015

Alternative splicing of fibronectin pre-mRNA during aging

artículo científico publicado en 1992

Amplification of c-myc and pvt-1 homologous sequences in acute nonlymphatic leukemia

artículo científico publicado en 1988

Amplification of the N-myc cellular oncogene in neuroblastoma. Relation to other tumor markers

artículo científico publicado en 1986

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

artículo científico publicado en 2009

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries

scientific article published on 13 June 2007

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma

artículo científico publicado en 2016

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

artículo científico publicado en 2009

Androgen and estrogen receptors are present in primary cultures of human synovial macrophages

artículo científico publicado en 1996

Anti-hepatitis C virus antibodies and hepatitis C virus viraemia in haemodialysis patients.

artículo científico publicado en 1993

Banking together. A unified model of informed consent for biobanking

artículo científico publicado en 2008

Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.

artículo científico publicado en 2009

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

article

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia

artículo científico publicado en 1993

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

article

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations

artículo científico publicado en 2011

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Common conditions of use elements. Atomic concepts for consistent and effective information governance

artículo científico publicado en 2024

Culture Medium Supplements Derived from Human Platelet and Plasma: Cell Commitment and Proliferation Support.

artículo científico publicado en 2017

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

artículo científico publicado en 2004

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

artículo científico publicado en 2017

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

artículo científico publicado en 2005

De novobalanced chromosome rearrangements in prenatal diagnosis

artículo científico publicado en 2009

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

artículo científico publicado en 1993

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

article

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

artículo científico publicado en 2008

Does N-myc Amplification Correlate with other Prognostic Factors in Advanced Neuroblastoma? Preliminary Results

artículo científico publicado en 1986

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

artículo científico publicado en 1991

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

artículo científico publicado en 2015

ELOVL5 mutations cause spinocerebellar ataxia 38

artículo científico publicado en 2014

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

artículo científico publicado en 2012

Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes.

artículo científico publicado en 2009

Estradiol inhibits growth of hormone-nonresponsive PC3 human prostate cancer cells.

artículo científico publicado en 1994

EuroGentest patient information leaflets: a free resource available in over 20 languages

artículo científico publicado en 2009

European registration process for Clinical Laboratory Geneticists in genetic healthcare

artículo científico publicado en 2017

Expression and alternative splicing of fibronectin mRNA in human diploid endothelial cells during aging in vitro

artículo científico publicado en 1993

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

scientific article published on 01 January 1981

First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential

artículo científico publicado en 2017

First-trimester euploid miscarriages analysed by array-CGH

artículo científico publicado en 2013

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

artículo científico publicado en 2004

Frequency of consanguineous marriages among parents and grandparents of Down patients

artículo científico publicado en 1985

GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon

artículo científico publicado en 2010

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

artículo científico publicado en 2017

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

artículo científico publicado en 2010

Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future

artículo científico publicado en 2007

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

artículo científico publicado en 2013

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

artículo científico publicado en 2011

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

artículo científico publicado en 2003

Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

scientific article published on 10 September 2020

Hepatitis G virus infection in haemodialysis patients

artículo científico publicado en 1997

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

artículo científico publicado en 2005

Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties.

artículo científico publicado en 2012

Hypokalaemia and failure to thrive: report of a misleading onset

artículo científico publicado en 2010

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

artículo científico publicado en 2002

Interferon therapy in chronic hepatitis C. Evaluation of a low dose maintenance schedule in responder patients

artículo científico publicado en 1993

Involvement of chromosomal region 9q34 in a case of variant Ph1 translocation t(22;22).

artículo científico publicado en 1986

Karyotype evolution in CML: high frequency of translocations other than the Ph.

artículo científico publicado en 1987

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

artículo científico publicado en 2013

Maternal uniparental disomy for chromosome 14.

artículo científico publicado en 1996

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

artículo científico publicado en 1999

Medically assisted reproduction and ethical challenges

artículo científico publicado en 2005

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

artículo científico publicado en 2008

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

artículo científico publicado en 2007

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma

artículo científico publicado en 2014

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

artículo científico publicado en 2010

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

artículo científico publicado en 2003

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

artículo científico publicado en 2015

Parental age and the origin of trisomy 21

artículo científico publicado en 1989

Parkin analysis in early onset Parkinson's disease

scholarly article by F. Sironi et al published May 2008 in Parkinsonism and Related Disorders

Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno)

artículo científico publicado en 1994

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

artículo científico publicado en 1997

Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells

artículo científico publicado en 2001

Presence of estrogen-binding sites on macrophage-like synoviocytes and cd8+, cd29+, cd45ro+ t lymphocytes in normal and rheumatoid synovium

artículo científico publicado en 1993

Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma

artículo científico publicado en 2018

Psychiatric genetic counseling: A mapping exercise

artículo científico publicado en 2019

R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.

artículo científico publicado en 2007

RFLPs of the LDL-receptor gene: Their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects

artículo científico publicado en 1992

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

scientific article published on 28 March 2019

Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination

artículo científico publicado en 2001

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

artículo científico publicado en 1995

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

artículo científico publicado en 2005

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

artículo científico publicado en 2016

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients

artículo científico publicado en 2002

The Genoa experience of prenatal diagnosis in NF1

artículo científico publicado en 2000

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

artículo científico publicado en 2017

The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity.

artículo científico publicado en 2016

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

artículo científico publicado en 2006

The many "I" inside of "Me".

artículo científico publicado en 2017

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor

artículo científico publicado en 2010

The policy of public health genomics in Italy

article

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

artículo científico publicado en 2014

Use of Blasto-Kit for cytogenetic analysis

artículo científico publicado en 1979

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.

artículo científico publicado en 2011

Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia

artículo científico publicado en 1990

Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.

artículo científico publicado en 1991

[Recent findings regarding the molecular changes responsible for hypertrophic cardiomyopathy]

artículo científico publicado en 1993

α-Synuclein multiplication analysis in Italian familial Parkinson disease

artículo científico publicado en 2010

Lista de obras de Domenico Coviello

19q13 microdeletion syndrome: Further refining the critical region.

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes.

A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application

A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia) ⬇️

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

Alternative splicing of fibronectin pre-mRNA during aging

Amplification of c-myc and pvt-1 homologous sequences in acute nonlymphatic leukemia

Amplification of the N-myc cellular oncogene in neuroblastoma. Relation to other tumor markers

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

Androgen and estrogen receptors are present in primary cultures of human synovial macrophages

Anti-hepatitis C virus antibodies and hepatitis C virus viraemia in haemodialysis patients.

Banking together. A unified model of informed consent for biobanking

Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Common conditions of use elements. Atomic concepts for consistent and effective information governance

Culture Medium Supplements Derived from Human Platelet and Plasma: Cell Commitment and Proliferation Support.

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

De novobalanced chromosome rearrangements in prenatal diagnosis

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Does N-myc Amplification Correlate with other Prognostic Factors in Advanced Neuroblastoma? Preliminary Results

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

ELOVL5 mutations cause spinocerebellar ataxia 38

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes.

Estradiol inhibits growth of hormone-nonresponsive PC3 human prostate cancer cells.

EuroGentest patient information leaflets: a free resource available in over 20 languages

European registration process for Clinical Laboratory Geneticists in genetic healthcare

Expression and alternative splicing of fibronectin mRNA in human diploid endothelial cells during aging in vitro

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential

First-trimester euploid miscarriages analysed by array-CGH

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness

Frequency of consanguineous marriages among parents and grandparents of Down patients

GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

Hepatitis G virus infection in haemodialysis patients

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties.

Hypokalaemia and failure to thrive: report of a misleading onset

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

Interferon therapy in chronic hepatitis C. Evaluation of a low dose maintenance schedule in responder patients

Involvement of chromosomal region 9q34 in a case of variant Ph1 translocation t(22;22).

Karyotype evolution in CML: high frequency of translocations other than the Ph.

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

Maternal uniparental disomy for chromosome 14.

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

Medically assisted reproduction and ethical challenges

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.