Antonio Pizzuti | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	2021
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis	BMC OPHTHALMOLOGY	2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review	DIAGNOSTICS	2021
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings	EUROPEAN JOURNAL OF MEDICAL GENETICS	2021
miR‑125b/NRF2/HO‑1 axis is involved in protection against oxidative stress of cystic fibrosis: a pilot study	EXPERIMENTAL AND THERAPEUTIC MEDICINE	2021
OTX015 epi‐drug exerts antitumor effects in ovarian cancer cells by blocking GNL3‐mediated radioresistance mechanisms: Cellular, molecular and computational evidence	CANCERS	2021
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X	BIOLOGY	2021
Risk of neural tube defects according to maternal body mass index: a systematic review and meta-analysis	THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE	2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings	FRONTIERS IN NEUROLOGY	2021
External hydrocephalus as a prenatal feature of Noonan Syndrome	ANNALS OF HUMAN GENETICS	2021
Fetal dacryocystocele: a pitfall in the third-trimester prenatal diagnosis of cleft lip	JOURNAL OF CLINICAL ULTRASOUND	2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort	GENETICS IN MEDICINE	2021
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment	EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY	2021
Una bambina con encefalopatia epilettica e dello sviluppo: un ruolo patogenetico per il gene PRMT8?	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021	2021
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?	JOURNAL OF CLINICAL ULTRASOUND	2020
BET inhibition therapy counteracts cancer cell survival, clonogenic potential and radioresistance mechanisms in rhabdomyosarcoma cells	CANCER LETTERS	2020
Tlr4 t399i polymorphism and endometriosis in a cohort of italian women	DIAGNOSTICS	2020
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	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
Neonatal Marfan Syndrome by Inherited Mutation	INDIAN JOURNAL OF PEDIATRICS	2020