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Genetics

D-Index
63
Citations
22368
World Ranking
2845
National Ranking
54

Overview

Antonio Pizzuti is affiliated with Sapienza University of Rome in Italy. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Within these broader disciplines, their work focuses on subfields such as Molecular Biology, Genetics, Cardiology and Cardiovascular Medicine, Pediatrics, Perinatology and Child Health, and Epidemiology.

The scientist's work covers several key topics, including:

  • Congenital heart defects research
  • Prenatal Screening and Diagnostics
  • Congenital Heart Disease Studies
  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Cardiomyopathy and Myosin Studies

Antonio Pizzuti has published extensively, with a number of recent papers illustrating the scope and focus of their research. Selected recent works include:

  • Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings, 2021, Frontiers in Neurology
  • When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort, 2021, Genetics in Medicine
  • Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis, 2022, Diagnostics
  • Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors, 2020, European Journal of Preventive Cardiology
  • Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review, 2021, Diagnostics

The venues in which Antonio Pizzuti frequently publishes include:

  • Diagnostics
  • American Journal of Medical Genetics Part A
  • Journal of Clinical Ultrasound
  • European Journal of Obstetrics & Gynecology and Reproductive Biology
  • Ultrasound in Obstetrics and Gynecology

Collaborations have been an important aspect of their academic work. Frequent co-authors are:

  • Gioia Mastromoro
  • Daniele Guadagnolo
  • Enrica Marchionni
  • Maria Piane
  • Laura Bernardini

Best Publications

  • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

    Annemiske J.M.H. Verkerk;Maura Pieretti;James S. Sutcliffe;Ying-Hui Fu

  • Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

    Ying-Hui Fu;Derek P.A. Kuhl;Antonio Pizzuti;Maura Pieretti

  • An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

    Y. H. Fu;A. Pizzuti;R. G. Fenwick;J. King

  • Characterization of a murine gene expressed from the inactive X chromosome.

    Giuseppe Borsani;Rossana Tonlorenzi;M. Christine Simmler;Luisa Dandolo

  • Triplet Repeat Mutations in Human Disease

    C. T. Caskey;A. Pizzuti;Ying-Hui Fu;R. G. Fenwick

  • Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

    Pardeep Kaurah;Andrée MacMillan;Niki Boyd;Janine Senz

  • Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

    Maria Cristina Digilio;Emanuela Conti;Anna Sarkozy;Rita Mingarelli

  • Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

    Fu Yh;Friedman Dl;Richards S;Pearlman Ja

  • Unravelling the Complexity of T Cell Abnormalities in Common Variable Immunodeficiency

    Antonello Giovannetti;Marina Pierdominici;Francesca Mazzetta;Marco Marziali

  • A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.

    Antonio Pizzuti;Lucia Frittitta;Alessandra Argiolas;Roberto Baratta

  • TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells

    Claudia Colombrita;Elisa Onesto;Francesca Megiorni;Antonio Pizzuti

  • Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

    Alessandro Bertolino;Alessandro Bertolino;Alessandro Bertolino;Giuseppe Blasi;Giuseppe Blasi;Valeria Latorre;Valeria Rubino

  • HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.

    Francesca Megiorni;Antonio Pizzuti

  • Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in Offspring

    J. B. Redman;R. G. Fenwick;Ying-Hui Fu;A. Pizzuti

  • Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

    Claudio Carta;Francesca Pantaleoni;Gianfranco Bocchinfuso;Lorenzo Stella

  • Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

    M. Gennarelli;M. Lucarelli;F. Capon;A. Pizzuti

  • A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance.

    Rosa Di Paola;Lucia Frittitta;Giuseppe Miscio;Maura Bozzali

  • Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

    A. Sarkozy;Emanuela Conti;D. Seripa;M. C. Digilio

  • The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121).

    Benedetta V. Costanzo;Vincenzo Trischitta;Rosa Di Paola;Daniela Spampinato

  • Founder and Recurrent CDH1 mutations in families with Hereditary diffuse gastric Cancer. Editorial

    Pardeep Kaurah;Andrée Macmillan;Niki Boyd;Janine Senz

Frequent Co-Authors

Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Giuseppe Novelli
Giuseppe Novelli University of Rome Tor Vergata
Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Alessandro De Luca
Alessandro De Luca Casa Sollievo della Sofferenza
Andrea Falini
Andrea Falini Vita-Salute San Raffaele University
Pierluigi Benedetti Panici
Pierluigi Benedetti Panici Sapienza University of Rome
Francesca Capon
Francesca Capon King's College London
Liborio Stuppia
Liborio Stuppia University of Chieti-Pescara
Maria Cristina Digilio
Maria Cristina Digilio University of Naples Federico II
Francesco Brancati
Francesco Brancati University of L'Aquila

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