Chiara De Leonibus

Chiara De Leonibus

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Chiara De Leonibus

Chiara De Leonibus

Publications by authors named "Chiara De Leonibus"

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21Publications

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Emerging lysosomal pathways for quality control at the endoplasmic reticulum.

FEBS Lett 2019 Sep 13;593(17):2319-2329. Epub 2019 Aug 13.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

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http://dx.doi.org/10.1002/1873-3468.13571DOI Listing
September 2019

The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency.

Pharmacogenomics J 2019 04 1;19(2):200-210. Epub 2018 Jun 1.

Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41397-018-0026-4DOI Listing
April 2019

Defective collagen proteostasis and matrix formation in the pathogenesis of lysosomal storage disorders.

Matrix Biol 2018 10 2;71-72:283-293. Epub 2018 Jun 2.

Telethon Institute of Genetics and Medicine (TIGEM), Via dei Campi Flegrei 34, 80078 Pozzuoli, Napoli, Italy.

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http://dx.doi.org/10.1016/j.matbio.2018.06.001DOI Listing
October 2018

Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.

JCI Insight 2018 04 5;3(7). Epub 2018 Apr 5.

Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester and Manchester Academic Health Science Centre, Manchester, United Kingdom.

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http://dx.doi.org/10.1172/jci.insight.93247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928867PMC
April 2018

Growth Hormone Deficiency in Prepubertal Children: Predictive Markers of Cardiovascular Disease.

Horm Res Paediatr 2016 10;85(6):363-71. Epub 2016 Mar 10.

Department of Paediatrics, University of Chieti, Chieti, Italy.

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http://dx.doi.org/10.1159/000444143DOI Listing
April 2017

Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease.

Mol Ther 2016 Dec 23;24(12):2054-2063. Epub 2016 Sep 23.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

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http://dx.doi.org/10.1038/mt.2016.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159621PMC
December 2016

Influence of inhaled corticosteroids on pubertal growth and final height in asthmatic children.

Pediatr Allergy Immunol 2016 08 6;27(5):499-506. Epub 2016 May 6.

Department of Pediatrics, University of Chieti, Chieti, Italy.

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http://dx.doi.org/10.1111/pai.12558DOI Listing
August 2016

Network analysis and juvenile idiopathic arthritis (JIA): a new horizon for the understanding of disease pathogenesis and therapeutic target identification.

Pediatr Rheumatol Online J 2016 Jul 2;14(1):40. Epub 2016 Jul 2.

Manchester Academic Health Sciences Centre, Institute for Human Development, Royal Manchester Children's Hospital, 5th Floor Research, Oxford Road, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1186/s12969-016-0078-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942903PMC
July 2016

Cerebral, renal and mesenteric regional oxygen saturation of term infants during transition.

J Pediatr Surg 2015 Aug 15;50(8):1273-7. Epub 2015 Apr 15.

Department of Neonatal Intensive care, Monaldi Hospital, Naples, Italy.

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http://dx.doi.org/10.1016/j.jpedsurg.2015.04.004DOI Listing
August 2015

Pediatric perspective on pharmacogenomics.

Pharmacogenomics 2013 Nov;14(15):1889-905

Institute of Human Development, Medical & Human Sciences, University of Manchester & Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, 5th Floor Research, Oxford Road, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.2217/pgs.13.193DOI Listing
November 2013

Update on statural growth and pubertal development in obese children.

Pediatr Rep 2012 Dec;4(4):e35

Department of Pediatrics, University of Chieti, Italy.

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http://dx.doi.org/10.4081/pr.2012.e35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555205PMC
December 2012

Brugada syndrome unmasked by febrile illness in an asymptomatic child.

J Pediatr 2012 Oct 18;161(4):769-769.e1. Epub 2012 May 18.

Department of Pediatrics, University of Chieti, Chieti, Italy.

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http://dx.doi.org/10.1016/j.jpeds.2012.04.034DOI Listing
October 2012

Thyroid dysfunction in obese pre-pubertal children: oxidative stress as a potential pathogenetic mechanism.

Free Radic Res 2012 Mar 6;46(3):303-9. Epub 2012 Feb 6.

Department of Pediatrics, University of Chieti, Ospedale Policlinico, Via dei Vestini 5, Chieti, Italy.

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http://dx.doi.org/10.3109/10715762.2011.653967DOI Listing
March 2012

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.

Acta Paediatr 2011 Jul 17;100(7):e43-6. Epub 2011 Mar 17.

Department of Paediatrics, University Hospital of Chieti, Chieti, Italy.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02228.xDOI Listing
July 2011

The scenarios of shock in newborn infants.

J Matern Fetal Neonatal Med 2010 Oct;23 Suppl 3:27-9

Neonatal Intensive Care Unit, Monaldi Hospital, via L. Bianchi, Localita', Naples, Italy.

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http://dx.doi.org/10.3109/14767058.2010.502017DOI Listing
October 2010

The physiopathology of the patent ductus arteriosus.

J Matern Fetal Neonatal Med 2009 ;22 Suppl 3:6-9

Neonatal Intensive Care Unit, Monaldi Hospital, Naples, Italy.

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http://dx.doi.org/10.1080/14767050903198215DOI Listing
May 2010