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viviana.caputo@uniroma1.it
Viviana Caputo
Professore Associato
Struttura:
DIPARTIMENTO DI MEDICINA SPERIMENTALE
E-mail:
viviana.caputo@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
Pubblicazioni
Titolo
Pubblicato in
Anno
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
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs
JOURNAL OF THE NEUROLOGICAL SCIENCES
2015
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
GENE
2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
NATURE GENETICS
2015
The emerging role of MicroRNA in schizophrenia
CNS & NEUROLOGICAL DISORDERS. DRUG TARGETS
2015
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Progetti di Ricerca
The role of non-coding RNAs in dental anomalies
Clinical and molecular study of GLUT1 related phenotypes: functional studies and new genotype-phenotype correlations
Study of molecular bases of Zimmermann-Laband syndrome
Study of the functional role of the potassium channel KCNH1 and of the molecular bases of Zimmermann-Laband syndrome
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