Chiara Leoni

Chiara Leoni

UNVERIFIED PROFILE

Are you Chiara Leoni?   Register this Author

Register author
Chiara Leoni

Chiara Leoni

Publications by authors named "Chiara Leoni"

Are you Chiara Leoni?   Register this Author

41Publications

992Reads

37Profile Views

One case of anetoderma post-vitamin K injection in a newborn.

Int J Dermatol 2020 Jan 20. Epub 2020 Jan 20.

Institute of Dermatology, Catholic University and Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14779DOI Listing
January 2020

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Mol Genet Genomic Med 2019 Aug 9;7(8):e845. Epub 2019 Jul 9.

Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687641PMC
August 2019

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Clin Genet 2019 Jul 22;96(1):102-103. Epub 2019 Apr 22.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13550DOI Listing
July 2019

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Am J Med Genet A 2019 07 6;179(7):1319-1324. Epub 2019 May 6.

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61160DOI Listing
July 2019

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Am J Med Genet A 2019 06 10;179(6):940-947. Epub 2019 Mar 10.

Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61111DOI Listing
June 2019

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Am J Med Genet A 2018 02 28;176(2):409-414. Epub 2017 Nov 28.

Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38554DOI Listing
February 2018

Psychopathological features in Noonan syndrome.

Eur J Paediatr Neurol 2018 Jan 28;22(1):170-177. Epub 2017 Sep 28.

Department of Neuroscience, Unit of Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.09.009DOI Listing
January 2018

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation.

Brain Stimul 2016 Jan-Feb;9(1):33-8. Epub 2015 Sep 2.

Institute of Neurology, Campus Biomedico University, Rome, Italy; Fondazione Alberto Sordi - Research Institute for Ageing, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.brs.2015.08.012DOI Listing
September 2016

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

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

J Pediatr 2016 Mar 9;170:322-4. Epub 2016 Jan 9.

Center for Rare Diseases, Department of Pediatrics, Catholic University, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2015.11.076DOI Listing
March 2016

Frequency of Intracranial Aneurysms Determined by Magnetic Resonance Angiography in Children (Mean Age 16) Having Operative or Endovascular Treatment of Coarctation of the Aorta (Mean Age 3).

Am J Cardiol 2015 Aug 22;116(4):630-3. Epub 2015 May 22.

Pediatric Cardiology and Adult Congenital Unit, Department of Experimental Diagnostic and Specialty Medicine, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029149150135
Publisher Site
http://dx.doi.org/10.1016/j.amjcard.2015.05.030DOI Listing
August 2015

Minor-but-Complex Liver Resection: An Alternative to Major Resections for Colorectal Liver Metastases Involving the Hepato-Caval Confluence.

Medicine (Baltimore) 2015 Jul;94(29):e1188

From the General Surgery Unit (LU, MP, RB, AM, VP, PB); Oncology Unit (GM, CV); Hepatology Unit (PC); Anaesthesiology and Intensive Care Unit (FF, GL, CL, AP); Radiology Unit (PB, AL); Infectious Disease Unit (CT); Pathology Unit (MC); Azienda Ospedaliero-Universitaria Pisana, Ospedale Nuovo Santa Chiara, Cisanello, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000001188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603012PMC
July 2015

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.

Am J Med Genet A 2015 Jan 24;167A(1):40-4. Epub 2014 Oct 24.

Physical Therapy Program, University of Wisconsin, LaCrosse, Wisconsin.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36828DOI Listing
January 2015

Neural tube defects and atypical deletion on 22q11.2.

Am J Med Genet A 2014 Nov 13;164A(11):2701-6. Epub 2014 Aug 13.

Center for Rare Diseases, Departments of Pediatrics, Catholic University, Rome, Italy; University of Utah, Department of Pediatrics, Division of Medical Genetics, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205263PMC
November 2014

Behavioral profile in RASopathies.

Am J Med Genet A 2014 Apr 23;164A(4):934-42. Epub 2014 Jan 23.

Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36374DOI Listing
April 2014

Decreased bone mineral density in Costello syndrome.

Mol Genet Metab 2014 Jan 16;111(1):41-5. Epub 2013 Aug 16.

Center for Rare Diseases, Department of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.08.007DOI Listing
January 2014

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy.

Sleep Breath 2012 Mar 14;16(1):5-10. Epub 2011 Jan 14.

Department of Neurosciences, Catholic University, Policlinico Universitario A. Gemelli, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11325-010-0479-4DOI Listing
March 2012

Hourglass cystic schwannoma of the trochlear nerve.

Acta Biomed 2010 Sep;81(2):147-50

S. Orsola-Malpighi University Hospital, Bologna, Italy.

View Article

Download full-text PDF

Source
September 2010

Increased levels of glial cell-derived neurotrophic factor in CSF of infants with SMA.

Pediatr Neurol 2009 Sep;41(3):195-9

Pediatric Intensive Care Unit, Catholic University School of Medicine, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2009.04.001DOI Listing
September 2009

Spatial and temporal regulation of Ca2+/calmodulin-dependent protein kinase II activity in developing neurons.

J Neurosci 2002 Aug;22(16):7016-26

Department of Neuroscience, S. Raffaele Scientific Institute and Vita-Salute University, 20132 Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/20026744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757882PMC
August 2002

Constitutive TrkA activity in receptor-overexpressing PC12 clones.

Biochem Biophys Res Commun 2002 Mar;291(4):972-8

Department of Neuroscience, S. Raffaele Scientific Institute and Vita-Salute University, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1006/bbrc.2002.6571DOI Listing
March 2002