List of works - Nicola Marziliano

A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

scientific article published on 17 August 2012

A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease.

scientific article published on 21 January 2012

An Impressive Case of "Honeycomb" In-Stent Restenosis

scientific article published on 01 September 2018

Aneurysm Syndromes and TGF-β Receptor Mutations

scientific article published on 01 November 2006

Assessment of DNA damage associated with standard or contrast diagnostic echocardiography

scientific article published on 26 November 2014

Assignment of the mouse Vegfb gene to mouse chromosome 19 B by in situ hybridization.

scientific article

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

scientific article published on 21 March 2019

Balloon-assisted tracking for challenging transfemoral percutaneous coronary intervention: a case report

scientific article published on 20 April 2018

Calcium release channel RyR2 regulates insulin release and glucose homeostasis

scientific article

Calcium release channel RyR2 regulates insulin release and glucose homeostasis.

scientific article

Changing place, changing future: Repositioning a subcutaneous implantable cardioverter-defibrillator can resolve inappropriate shocks secondary to myopotential oversensing

scientific article published in August 2017

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

scientific article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

Comparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates

scientific article published in 2005

Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair

scientific article published on 15 July 2019

Detection of Epstein Barr virus in formalin-fixed paraffin tissues by fluorescent direct in situ PCR.

scientific article published in July 2005

Development and loss of the ability of mouse oolemma to fuse with spermatozoa.

scientific article published in November 1994

Direct in situ PCR allows rapid and sensitive detection of high risk human papillomavirus in cytologic specimens and formalin-fixed paraffin tissues by fluorescent labelling.

scientific article published in January 2001

EDG3 and SHC3 on chromosome 9q22 are co-amplified in human ependymomas.

scientific article published on 12 September 2009

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

scientific article published on 6 March 2018

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

scientific article

Expanding the spectrum of causative mutations of Marfan syndrome: Is there a role for the elastin gene?

scientific article published on 07 December 2018

Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats.

scientific article published on 18 April 2005

Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary

scientific article published in February 2008

Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL).

scientific article published in July 2005

Gene symbol: KCNQ1. Disease: LQT1

article

Gene symbol: LDB3

scientific article published on 01 February 2007

Gene symbol: LDB3

article

Gene symbol: LMNA

scientific article published on 01 February 2007

Gene symbol: LMNA

article

Gene symbol: LMNA

Gene symbol: PON1. Disease: coronary artery disease

scientific article published on 01 July 2006

Genetic mapping of the mouse homologue of the human angiopoietin-1 gene (Agpt) to mouse chromosome 9E2 by in situ hybridization

scientific article published on 01 January 1999

Genetic predisposition to atorvastatin-induced myopathy: a case report ⬇️

scientific article published on May 14, 2012

Genome composition in Venezuelan spiny-rats of the genus <i>Proechimy</i><i>s</i> (Rodentia, Echimyidae). I. Genome size, C-heterochromatin and repetitive DNAs in situ hybridization patterns ⬇️

scientific article published on January 1, 1997

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

High-dose erythropoietin in patients with acute myocardial infarction: A pilot, randomised, placebo-controlled study

scientific article published on 10 November 2009

In situ PCR (IS-PCR) to detect reduced amount of mouse minor satellite DNA

scientific article published on 01 January 1997

In situ RT-PCR allows the detection of ornithine decarboxylase mRNA in paraffin embedded archival human hyperplastic breast tissues.

scientific article published on January 1999

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

Letter by Maurizia Grasso et al. regarding article, “Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation”

scientific article published on 04 September 2007

Melting temperature analysis as quantitative method for detection of point mutations

scientific article published on 01 June 2001

Melting temperature assay for a UGT1A gene variant in Gilbert syndrome

scientific article published on 01 March 2000

Modeled gravitational unloading triggers differentiation and apoptosis in preosteoclastic cells.

scientific article published on May 2006

Nonvalvular atrial fibrillation in high-hemorrhagic-risk patients: state of the art of percutaneous left atrial appendage occlusion

scientific article published on 01 January 2019

Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects.

scientific article published in April 2009

Pericentromeric organization at the fusion point of mouse Robertsonian translocation chromosomes.

scientific article

Proteases Upregulation in Sporadic Alzheimer's Disease Brain

scientific article published on 01 January 2019

Rapid and portable, lab-on-chip, point-of-care genotyping for evaluating clopidogrel metabolism.

scientific article

Role of cardiac imaging in Anderson-Fabry cardiomyopathy

scientific article published on 23 January 2019

Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.

scientific article

Scar Detection by Pulse-Cancellation Echocardiography: Validation by CMR in Patients With Recent STEMI

scientific article published on 25 May 2016

Simulated hypogravity impairs the angiogenic response of endothelium by up-regulating apoptotic signals

article

Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D

scientific article published on 01 September 2000

Six-year-old archival chromosome preparations are still good biological reagents for repeated primed in situ labelling (rPRINS)

scientific article published on January 1, 1998

Spontaneous Retrograde Embolization From an Infarct-Related Artery to a Bystander Nonculprit Artery: An Unclear Pathophysiological Mechanism?

scientific article published on 01 March 2018

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

scientific article published on 21 March 2019

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation

scientific article published on 27 March 2012

The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy

scientific article published on 01 July 2015

The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.

scientific article published on 17 January 2014

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.

scientific article

Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography

scientific article published on 28 June 2018

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

scientific article

Visual arts and genetics: lessons from the past.

scientific article published on 9 December 2010

When Coronary Artery Disease Meets a Channelopathy: An Unexpected Dangerous Date

scientific article published on 27 November 2019

[Genomics in cardiological clinical practice: from the individual response to drug therapy and monogenic cardiovascular disorders]

scientific article published on 01 October 2010

[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]

scientific article published on 01 November 2015

[Stent thrombosis and clopidogrel response variability: is the genetic test useful in clinical practice?]

scientific article published on 01 October 2011

αB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands

scientific article published on 12 June 2006

List of works by Nicola Marziliano

A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease.

An Impressive Case of "Honeycomb" In-Stent Restenosis

Aneurysm Syndromes and TGF-β Receptor Mutations

Assessment of DNA damage associated with standard or contrast diagnostic echocardiography

Assignment of the mouse Vegfb gene to mouse chromosome 19 B by in situ hybridization.

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

Balloon-assisted tracking for challenging transfemoral percutaneous coronary intervention: a case report

Calcium release channel RyR2 regulates insulin release and glucose homeostasis

Calcium release channel RyR2 regulates insulin release and glucose homeostasis.

Changing place, changing future: Repositioning a subcutaneous implantable cardioverter-defibrillator can resolve inappropriate shocks secondary to myopotential oversensing

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Comparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates

Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair

Detection of Epstein Barr virus in formalin-fixed paraffin tissues by fluorescent direct in situ PCR.

Development and loss of the ability of mouse oolemma to fuse with spermatozoa.

Direct in situ PCR allows rapid and sensitive detection of high risk human papillomavirus in cytologic specimens and formalin-fixed paraffin tissues by fluorescent labelling.

EDG3 and SHC3 on chromosome 9q22 are co-amplified in human ependymomas.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

Expanding the spectrum of causative mutations of Marfan syndrome: Is there a role for the elastin gene?

Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats.

Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary

Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL).

Gene symbol: KCNQ1. Disease: LQT1

Gene symbol: LDB3

Gene symbol: LDB3

Gene symbol: LMNA

Gene symbol: LMNA

Gene symbol: LMNA

Gene symbol: PON1. Disease: coronary artery disease

Genetic mapping of the mouse homologue of the human angiopoietin-1 gene (Agpt) to mouse chromosome 9E2 by in situ hybridization

Genetic predisposition to atorvastatin-induced myopathy: a case report ⬇️

Genome composition in Venezuelan spiny-rats of the genus &lt;i&gt;Proechimy&lt;/i&gt;&lt;i&gt;s&lt;/i&gt; (Rodentia, Echimyidae). I. Genome size, C-heterochromatin and repetitive DNAs in situ hybridization patterns ⬇️

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

High-dose erythropoietin in patients with acute myocardial infarction: A pilot, randomised, placebo-controlled study

In situ PCR (IS-PCR) to detect reduced amount of mouse minor satellite DNA

In situ RT-PCR allows the detection of ornithine decarboxylase mRNA in paraffin embedded archival human hyperplastic breast tissues.

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

Letter by Maurizia Grasso et al. regarding article, “Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation”

Melting temperature analysis as quantitative method for detection of point mutations

Melting temperature assay for a UGT1A gene variant in Gilbert syndrome

Modeled gravitational unloading triggers differentiation and apoptosis in preosteoclastic cells.

Nonvalvular atrial fibrillation in high-hemorrhagic-risk patients: state of the art of percutaneous left atrial appendage occlusion

Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects.

Pericentromeric organization at the fusion point of mouse Robertsonian translocation chromosomes.

Proteases Upregulation in Sporadic Alzheimer's Disease Brain

Rapid and portable, lab-on-chip, point-of-care genotyping for evaluating clopidogrel metabolism.

Role of cardiac imaging in Anderson-Fabry cardiomyopathy

Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.

Scar Detection by Pulse-Cancellation Echocardiography: Validation by CMR in Patients With Recent STEMI

Simulated hypogravity impairs the angiogenic response of endothelium by up-regulating apoptotic signals

Single tube melting temperature assay for rapid and sensitive detection of the most frequent hemocromatosis mutations, C282Y and H63D

Six-year-old archival chromosome preparations are still good biological reagents for repeated primed in situ labelling (rPRINS)

Spontaneous Retrograde Embolization From an Infarct-Related Artery to a Bystander Nonculprit Artery: An Unclear Pathophysiological Mechanism?

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation

The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy

The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.

Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Visual arts and genetics: lessons from the past.

When Coronary Artery Disease Meets a Channelopathy: An Unexpected Dangerous Date

[Genomics in cardiological clinical practice: from the individual response to drug therapy and monogenic cardiovascular disorders]

[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]

[Stent thrombosis and clopidogrel response variability: is the genetic test useful in clinical practice?]

αB-Crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands

Genome composition in Venezuelan spiny-rats of the genus <i>Proechimy</i><i>s</i> (Rodentia, Echimyidae). I. Genome size, C-heterochromatin and repetitive DNAs in situ hybridization patterns ⬇️