Maria Piane
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View article: Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Detail description of the functional categorization of analyzed CHEK2 missense variants.
View article: Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
List of all analyzed CHEK2 variants with results of KAP1/CHK2 kinase and localization assays and the results from recent previously published functional analyses of the CHEK2 VUS.
View article: Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk
Table S2 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk Open
Characteristics of 12 case-control datasets from the ENIGMA consortium partners.
View article: The Italian public health response during the pandemic emergency: from qualitative data to the “performance index” of care provided by Spoleto Hospital
The Italian public health response during the pandemic emergency: from qualitative data to the “performance index” of care provided by Spoleto Hospital Open
Background The public health emergency was one of the most severe consequences of the COVID-19 pandemic outbreak, which occurred in successive waves since March 2020. In this scenario, the Hospital of Spoleto “San Matteo degli Infermi” (lo…
View article: Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review Open
The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with sever…
View article: Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene
Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene Open
View article: Beyond the BRCA1/2 genes in ovarian cancer: the clinical and prognostic role of germline pathogenic variants in the ATM gene
Beyond the BRCA1/2 genes in ovarian cancer: the clinical and prognostic role of germline pathogenic variants in the ATM gene Open
Ovarian Cancer (OC) prevention and early-stage detection represents a challenge due to the lack of effective surveillance. The identification of high-risk women is crucial as it provides access to prophylactic oophorectomy and reduces dise…
View article: Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations Open
Background Genetic testing is valuable to confirm molecular diagnosis in nearly 60% of cases suspected of hypertrophic cardiomyopathy (HCM). However, the interpretation of variants, especially those of uncertain significance (VUSs), remain…
View article: Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian Cohort
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian Cohort Open
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, i…
View article: Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review Open
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular mo…
View article: Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study Open
Objectives: Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. Methods: This single-center retrospective study i…
View article: Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review Open
Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Dilated Cardiomyopathy (DCM), and Hypertrophic Cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute t…
View article: Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in <i>BRCA1</i> Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay
Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in <i>BRCA1</i> Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay Open
Paola Concolino, M.Sc., Elisa De Paolis, M.Sc., Martina Rinelli, M.Sc., Giulia Maneri, M.Sc., Francesca Brisighelli, Ph.D., Rita Trozzi, M.D., Simona Duranti, M.D., Luciano Giacò, M.Sc., Maria Piane, M.D., Alessia Preziosi, M.Sc., Arianna …
View article: Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease Open
Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP acc…
View article: Short Stature: Beyond Growth Hormone
Short Stature: Beyond Growth Hormone Open
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View article: Integrating Idylla TM Alongside Real-time PCR and NGS for Investigation of Gene Fusions in Pleural Effusions of Lung Adenocarcinoma
Integrating Idylla TM Alongside Real-time PCR and NGS for Investigation of Gene Fusions in Pleural Effusions of Lung Adenocarcinoma Open
View article: Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors Open
The aim of this study is to evaluate the predictive role of specific clinical factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, bronchial, o…
View article: The role of genetic testing in suspected fulminant myocarditis: A case report
The role of genetic testing in suspected fulminant myocarditis: A case report Open
View article: Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II Open
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypo…
View article: Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility Open
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with …
View article: Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II Open
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, c…
View article: Prenatal <i>CFAP53</i> -related laterality defect: case report and review of the literature
Prenatal <i>CFAP53</i> -related laterality defect: case report and review of the literature Open
Laterality defects include morphological anomalies with impaired left-right asymmetry induction, such as dextrocardia, situs inversus abdominis, situs inversus totalis and situs ambiguus. The different arrangement of major organs is called…
View article: Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? Open
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolong…
View article: A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy Open
Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis o…
View article: 1064 LONG QTC IN HCM: A CONSEQUENCE OF MYOCARDIAL HYPERTROPHY OR A DISTINCT GENETIC DISEASE?
1064 LONG QTC IN HCM: A CONSEQUENCE OF MYOCARDIAL HYPERTROPHY OR A DISTINCT GENETIC DISEASE? Open
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant condition, characterized by the presence of unexplained left ventricular hypertrophy. This condition is usually associated with electrocardiographic abnormalities including QTc pro…
View article: Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy Open
Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict the cancer’s response to treatment as less than 20% of patient…
View article: Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? Open
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) i…
View article: Mild Neurological Phenotype Associated with Hypomorphic Variants in the <scp>Ataxia‐Telangiectasia</scp> Mutated Gene
Mild Neurological Phenotype Associated with Hypomorphic Variants in the <span>Ataxia‐Telangiectasia</span> Mutated Gene Open
Background Ataxia‐telangiectasia (A‐T) is a progressive multisystemic neurodegenerative disease. The phenotypic spectrum includes conditions (variant A‐T) with mild, late‐onset, and atypical clinical presentations characterized by the prev…
View article: A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome Open
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Ita…
View article: From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways Open
Background: It is a well-known fact that the information obtained from a survey can be used in a healthcare organizational analysis; however, it is very difficult to compare the different results found in the literature to each other, even…