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Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations

Epigenomics, 2018-11, Vol.10 (11), p.1431-1443

2018

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Acute Myocarditis Associated With Desmosomal Gene Variants

JACC. Heart failure, 2022-10, Vol.10 (10), p.714-727

2022

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Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report

World journal of surgical oncology, 2023-03, Vol.21 (1), p.118-118, Article 118

2023

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Contribution of gene sequence variations of the hepatic cytochrome P450 3A4 enzyme to variability in individual responsiveness to clopidogrel

Arteriosclerosis, thrombosis, and vascular biology, 2006-08, Vol.26 (8), p.1895

2006

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Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency

Atherosclerosis plus, 2022-08, Vol.49, p.28-31

2022

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

Genetics in Medicine Open, 2023, Vol.1 (1), p.100295, Article 100295

2023

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Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis

PloS one, 2008-02, Vol.3 (2), p.e1523-e1523

2008

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Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Italian journal of pediatrics, 2012-10, Vol.38 (1), p.52-52

2012

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Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

BMC medical genetics, 2007-09, Vol.8 (1), p.59-59, Article 59

2007

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Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL

Neurological sciences, 2019-08, Vol.40 (8), p.1751-1753

2019

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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

Neurogenetics, 2024-07, Vol.25 (3), p.281-286

2024

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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature

Neurogenetics, 2024, Vol.25 (3), p.281-286

2024

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Cobblestone‐like brain malformation with a new bi‐allelic ADGRG1 (GPR‐56) mutation: Fetal imaging‐pathology correlation

Journal of neuroimaging, 2023-07, Vol.33 (4), p.527-533

2023

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Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases

Cytogenetic and genome research, 2020-04, Vol.160 (2), p.80-84

2020

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SNPs of the FADS Gene Cluster are Associated with Polyunsaturated Fatty Acids in a Cohort of Patients with Cardiovascular Disease

Lipids, 2008-04, Vol.43 (4), p.289-299

2008

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Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.200-206

2017

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Array CGH in routine prenatal diagnosis practice

Prenatal diagnosis, 2012-07, Vol.32 (7), p.708-709

2012

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Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

Breast cancer research and treatment, 2010-11, Vol.124 (1), p.251-258

2010

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New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion

Clinical biochemistry, 2013-12, Vol.46 (18), p.1902-1904

2013

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Caffeine intake and risk of neural tube defects

Birth defects research. A Clinical and molecular teratology, 2011-01, Vol.91 (1), p.67-67

2011

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Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease

Thrombosis research, 2005, Vol.116 (6), p.491-497

2005

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ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.959-966

2007

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De novo balanced chromosome rearrangements in prenatal diagnosis

Prenatal diagnosis, 2009-03, Vol.29 (3), p.257-265

2009

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Variability in Platelet Aggregation Following Sustained Aspirin and Clopidogrel Treatment in Patients With Coronary Heart Disease and Influence of the 807 C/T Polymorphism of the Glycoprotein Ia Gene

The American journal of cardiology, 2005-10, Vol.96 (8), p.1095-1099

2005

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Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

European journal of pediatrics, 2010-10, Vol.169 (10), p.1255-1261

2010

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Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations

Acute Myocarditis Associated With Desmosomal Gene Variants

Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report

Contribution of gene sequence variations of the hepatic cytochrome P450 3A4 enzyme to variability in individual responsiveness to clopidogrel

Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis

Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior

Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature

Cobblestone‐like brain malformation with a new bi‐allelic ADGRG1 (GPR‐56) mutation: Fetal imaging‐pathology correlation

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases

SNPs of the FADS Gene Cluster are Associated with Polyunsaturated Fatty Acids in a Cohort of Patients with Cardiovascular Disease

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review

Array CGH in routine prenatal diagnosis practice

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion

Caffeine intake and risk of neural tube defects

Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

De novo balanced chromosome rearrangements in prenatal diagnosis

Variability in Platelet Aggregation Following Sustained Aspirin and Clopidogrel Treatment in Patients With Coronary Heart Disease and Influence of the 807 C/T Polymorphism of the Glycoprotein Ia Gene

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

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