Pietro Chiurazzi

Pietro Chiurazzi

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Pietro Chiurazzi

Pietro Chiurazzi

Publications by authors named "Pietro Chiurazzi"

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36Publications

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Cardiac conduction defects.

Acta Biomed 2019 Sep 30;90(10-S):20-29. Epub 2019 Sep 30.

MAGI's Lab, Rovereto (TN), Italy.

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http://dx.doi.org/10.23750/abm.v90i10-S.8751DOI Listing
September 2019

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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http://dx.doi.org/10.5966/sctm.2015-0303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922854PMC
July 2016

Defining the role of the CGGBP1 protein in FMR1 gene expression.

Eur J Hum Genet 2016 May 26;24(5):697-703. Epub 2015 Aug 26.

Istituto di Genetica Medica, Università Cattolica, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930089PMC
May 2016

Advances in understanding - genetic basis of intellectual disability.

F1000Res 2016 7;5. Epub 2016 Apr 7.

Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

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http://dx.doi.org/10.12688/f1000research.7134.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830215PMC
April 2016

Epigenetics, fragile X syndrome and transcriptional therapy.

Am J Med Genet A 2013 Nov 3;161A(11):2797-808. Epub 2013 Oct 3.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36264DOI Listing
November 2013

Bradeion (SEPT4) as a urinary marker of transitional cell bladder cancer: a real-time polymerase chain reaction study of gene expression.

J Urol 2012 Jun 13;187(6):2223-7. Epub 2012 Apr 13.

Department of Urology, Catholic University of the Sacred Heart, Policlinico Agostino Gemelli, Rome, Italy.

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http://dx.doi.org/10.1016/j.juro.2012.01.031DOI Listing
June 2012

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Nat Genet 2012 Apr 29;44(6):636-8. Epub 2012 Apr 29.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.

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http://www.nature.com/articles/ng.2257
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http://dx.doi.org/10.1038/ng.2257DOI Listing
April 2012

Mental retardation: is naming the real issue?

Authors:
Pietro Chiurazzi

Am J Med Genet A 2011 May 4;155A(5):974-5. Epub 2011 Apr 4.

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33950DOI Listing
May 2011

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.

Am J Med Genet A 2010 Feb;152A(2):409-12

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33213DOI Listing
February 2010

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

Eur J Hum Genet 2008 Dec 16;16(12):1487-98. Epub 2008 Jul 16.

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2008.130DOI Listing
December 2008

XLMR genes: update 2007.

Eur J Hum Genet 2008 Apr 16;16(4):422-34. Epub 2008 Jan 16.

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://www.nature.com/doifinder/10.1038/sj.ejhg.5201994
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http://dx.doi.org/10.1038/sj.ejhg.5201994DOI Listing
April 2008

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

Eur J Hum Genet 2008 Feb 31;16(2):209-14. Epub 2007 Oct 31.

Facolta di Medicina e Chirurgia, Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201949DOI Listing
February 2008

Fragile X syndrome.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):32-7

Institute of Medical Genetics of Catholic University, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.c.30062
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http://dx.doi.org/10.1002/ajmg.c.30062DOI Listing
August 2005

Molecular dissection of the events leading to inactivation of the FMR1 gene.

Hum Mol Genet 2005 Jan 24;14(2):267-77. Epub 2004 Nov 24.

Istituto di Genetica medica, Università Cattolica, Rome, Italy.

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http://dx.doi.org/10.1093/hmg/ddi024DOI Listing
January 2005

X-linked mental retardation (XLMR): from clinical conditions to cloned genes.

Crit Rev Clin Lab Sci 2004 ;41(2):117-58

Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1080/10408360490443013 DOI Listing
December 2004

Understanding the biological underpinnings of fragile X syndrome.

Curr Opin Pediatr 2003 Dec;15(6):559-66

Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1097/00008480-200312000-00003DOI Listing
December 2003

A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.

Eur J Hum Genet 2002 Nov;10(11):767-72

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/sj.ejhg.5200881DOI Listing
November 2002

Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.

Nucleic Acids Res 2002 Jul;30(14):3278-85

Istituto di Genetica Medica, Università Cattolica, and Centro Ricerche per la Disabilità Mentale e Motoria, Associazione Anni Verdi, Largo F. Vito 1, 00168 Rome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC135754PMC
http://dx.doi.org/10.1093/nar/gkf434DOI Listing
July 2002