Antonio Pizzuti | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors	EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY	2020
Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings	EUROPEAN JOURNAL OF MEDICAL GENETICS	2020
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers	JOURNAL OF CLINICAL MEDICINE	2020
Obstetrical and perinatal outcomes in fetuses with early versus late sonographic diagnosis of short femur length: a single-center, prospective, cohort study	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2020
Pregnant women's knowledge and behaviour to prevent cytomegalovirus infection: an observational study	JOURNAL OF PERINATAL MEDICINE	2020
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome	JOURNAL OF MEDICAL GENETICS	2020
An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus	JOURNAL OF PERINATAL MEDICINE	2020
Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters	EUROPEAN JOURNAL OF HUMAN GENETICS	2020
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy	HUMAN MUTATION	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
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease	NEURODEGENERATIVE DISEASES	2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants	JOURNAL OF NEUROLOGY	2019
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies	ARCHIVES OF ORAL BIOLOGY	2018
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test	METHODS AND PROTOCOLS	2018
PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines	JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY	2018
Update in non invasive prenatal testing	MINERVA GINECOLOGICA	2018
Mid-trimester isolated short femur and perinatal outcomes: a systematic review and meta-analysis	ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA	2018
Androgen insensitivity syndrome	EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES	2018
HLA-DQB1∗0201 phenotype and severe primary RhD immunization	CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY	2018
Medicina eugenica e Shoah. Ricordare il male e promuovere la bioetica	medicina eugenica e shoah	2018