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List of works by Domenico Coviello

19q13 microdeletion syndrome: Further refining the critical region.

scientific article published on 10 April 2012

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

scientific article published on 26 January 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

scientific article published on 01 January 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.

scientific article

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

scientific article published in March 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) ⬇️

scientific article published on July 1, 1992

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

scientific article published in May 2007

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

scientific article published on 3 March 2009

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

scientific article

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

scientific article published in December 2010

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

scientific article published on 29 October 2013

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

scientific article published on September 2015

Alternative splicing of fibronectin pre-mRNA during aging

scientific article published in November 1992

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

scientific article published in January 1988

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

scientific article

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

scientific article published on 20 May 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

scientific article

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

scientific article published in April 2009

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

scientific article published in February 1996

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

scientific article published in January 1993

Banking together. A unified model of informed consent for biobanking

scientific article published on April 2008

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

scientific article published on 24 January 2009

Cell-specific regulation of 1(III) and 2(V) collagen by TGF- 1 in tubulointerstitial cell models ⬇️

scientific article published on March 1, 1998

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

scientific article published in October 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

scientific article published in January 2011

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

scientific article published on 14 November 2011

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

scientific article published on 8 May 2024

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

scientific article published on 20 November 2017

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

scientific article published on 2 November 2004

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

scientific article published on 10 March 2017

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates ⬇️

scientific article published on November 4, 2011

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

scientific article published in December 2005

De novobalanced chromosome rearrangements in prenatal diagnosis

scientific article published on 01 March 2009

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

scientific article

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.

scientific article published on June 2008

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

scientific article published in January 1986

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

scientific article published in February 1991

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

scientific article published on 24 December 2015

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

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

scientific article published in December 2012

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

scientific article

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

scientific article published in March 1994

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

scientific article published on 4 March 2009

European registration process for Clinical Laboratory Geneticists in genetic healthcare

scientific article

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

scientific article published in May 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

scientific article

First-trimester euploid miscarriages analysed by array-CGH

scientific article published on 19 June 2013

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

scientific article published in August 2004

Frequency of consanguineous marriages among parents and grandparents of Down patients

scientific article published on January 1985

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

scientific article published on 29 November 2010

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

scientific article

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

scientific article

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

scientific article published on 26 September 2007

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

scientific article published on 29 January 2013

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

scientific article published on 12 March 2011

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

scientific article

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

scientific article published on November 1997

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

scientific article

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

scientific article

Hypokalaemia and failure to thrive: report of a misleading onset

scientific article published on 22 March 2010

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

scientific article published on 27 June 2002

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

scientific article published in March 1993

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

scientific article published on January 1986

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

scientific article published in March 1987

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

scientific article

Maternal uniparental disomy for chromosome 14.

scientific article published in January 1996

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

scientific article

Medically assisted reproduction and ethical challenges

scientific article

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

scientific article

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

scientific article published on 29 August 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

scientific article published on 14 January 2014

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

scientific article published on 8 January 2010

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

scientific article published on 14 July 2003

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

scientific article published on 17 September 2015

Parental age and the origin of trisomy 21

scientific article published in April 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)

scientific article published in August 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

scientific article published in October 1997

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

scientific article

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

scientific article published in September 1993

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

scientific article published on 01 August 2018

Psychiatric genetic counseling: A mapping exercise

scientific article published on 20 June 2019

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

scientific article

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

scientific article published in May 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

scientific article published in 2001

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

scientific article

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

scientific article published in December 2005

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

scientific article published on 07 September 2016

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

scientific article published on 27 June 2002

The Genoa experience of prenatal diagnosis in NF1

scientific article published in 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

scientific article published on 27 June 2017

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

scientific article

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

scientific article published in May 2006

The many "I" inside of "Me".

scientific article

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

scientific article published on 30 July 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

scientific article

Use of Blasto-Kit for cytogenetic analysis

scientific article published in January 1979

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

scientific article

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

scientific article published in April 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.

scientific article published in May 1991

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

scientific article published in March 1993

α-Synuclein multiplication analysis in Italian familial Parkinson disease

scientific article published in March 2010

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