Antonio Pizzuti | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline	ONCOTARGET	2018
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2017
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study	PRENATAL DIAGNOSIS	2017
A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma	ONCOLOGY REPORTS	2017
Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells	JOURNAL OF HEMATOLOGY & ONCOLOGY	2017
Oral health in two heterozygote female twins with congenital lactic acidosis	SENSES & SCIENCES	2017
MRI and US in the evaluation of fetal anomalies: the need to work together	PRENATAL DIAGNOSIS	2017
Unusual Association of Scn2a Epileptic Encephalopathy with Severe Cortical Dysplasia Detected by Prenatal Mri	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients	ARCHIVES OF ORAL BIOLOGY	2017
An update on the metabolic syndrome's epigenomic risk	MINERVA ENDOCRINOLOGICA	2017
Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings	JOURNAL OF CLINICAL ULTRASOUND	2016
Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to TypingHLA-B*57:01in HIV-1-Positive Patients	AIDS RESEARCH AND HUMAN RETROVIRUSES	2016
DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation	ONCOTARGET	2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy	AMERICAN JOURNAL OF HUMAN GENETICS	2016
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16	BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY	2016
The use of piezosurgery in cranial surgery in children	THE JOURNAL OF CRANIOFACIAL SURGERY	2015
Loss-of-function mutations in appl1 in familial diabetes mellitus	AMERICAN JOURNAL OF HUMAN GENETICS	2015
Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition	JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH	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