Viviana Caputo

Pubblicazioni

Titolo Pubblicato in Anno
Potential role of eNOS genetic variants in ischemic heart disease susceptibility and clinical presentation JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE 2021
Exposure to 3′sialyllactose‐poor milk during lactation impairs cognitive capabilities in adulthood NUTRIENTS 2021
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism PARKINSONISM & RELATED DISORDERS 2020
Prenatal expression of d‑aspartate oxidase causes early cerebral d‑aspartate depletion and influences brain morphology and cognitive functions at adulthood AMINO ACIDS 2020
Genomic and physiological resilience in extreme environments are associated with a secure attachment style TRANSLATIONAL PSYCHIATRY 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance MOLECULAR GENETICS & GENOMIC MEDICINE 2020
Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY 2020
New insights on the influence of free d-aspartate metabolism in the mammalian brain during prenatal and postnatal life BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS 2020
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL 2020
Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions 48th meeting of EBBS abstract book 2019
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. MOLECULAR GENETICS & GENOMIC MEDICINE 2019
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies ARCHIVES OF ORAL BIOLOGY 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration NEUROLOGY 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome AMERICAN JOURNAL OF HUMAN GENETICS 2018
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2017
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy DATA IN BRIEF 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy AMERICAN JOURNAL OF HUMAN GENETICS 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy AMERICAN JOURNAL OF HUMAN GENETICS 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2016
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies AMERICAN JOURNAL OF HUMAN GENETICS 2015

Progetti di Ricerca

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