Publications by authors named "Simone Pizzi"

24Publications

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

Immunol Lett 2020 Sep 24;225:64-65. Epub 2020 Jun 24.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.imlet.2020.06.012DOI Listing
September 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Clin Genet 2019 12 4;96(6):585-589. Epub 2019 Sep 4.

Dipartimento Pediatrie Specialistiche, U. O. Reumatologia, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13632DOI Listing
December 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 04 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
Publisher Site
http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Immunol Lett 2018 02 24;194:40-43. Epub 2017 Dec 24.

University of Torino, Department of Public Health and Pediatrics, Piazza Polonia 94, Turin, 10126, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.imlet.2017.12.006DOI Listing
February 2018

A syndromic extreme insulin resistance caused by biallelic mutations in exon 10.

Eur J Endocrinol 2017 Nov 17;177(5):K21-K27. Epub 2017 Aug 17.

Department of Medical Sciences, University of Torino, Torino, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-17-0431DOI Listing
November 2017

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Am J Med Genet A 2016 09 20;170(9):2389-93. Epub 2016 Jun 20.

Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37681DOI Listing
September 2016

Virtual Screening for the Development of Dual-Inhibitors Targeting Topoisomerase IB and Tyrosyl-DNA Phosphodiesterase 1.

Curr Drug Targets 2017 ;18(5):544-555

Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica 1, 00133, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1389450116666150727114742DOI Listing
September 2017

Epidural analgesia during labor and incidence of cesarian section: prospective study.

J Matern Fetal Neonatal Med 2011 Feb 23;24(2):250-2. Epub 2010 Jun 23.

Anesthesia and Intensive Care Unit, Children’s Hospital Salesi, Ancona, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/14767058.2010.482625DOI Listing
February 2011