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List of works by Chiara Leoni

Behavioral Profile in RASopathies

scientific article published on 23 January 2014

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

scientific article published in February 2009

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

scientific article

Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive

scientific article published on 7 December 2017

Decreased bone mineral density in Costello syndrome.

scientific article

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

scientific article published on 2 September 2015

Dystonia in Costello syndrome

scientific article published on 15 April 2012

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

scientific article published on 06 May 2019

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

scientific article

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

scientific article published on 09 July 2019

Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy.

scientific article

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

scientific article published in March 2010

Impact of Costello syndrome on growth patterns

scientific article published on 26 August 2020

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

scientific article

Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).

scientific article

Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles

scientific article published on 17 July 2020

Neural tube defects and atypical deletion on 22q11.2

scientific article published on 13 August 2014

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

scientific article published on 22 April 2019

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation

scientific article published on 28 November 2017

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

scientific article published on 10 March 2019

Psychopathological features in Noonan syndrome

scientific article published on 28 September 2017

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

scientific article

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

scientific article published on 23 March 2016

Skeletal abnormalities are common features in Aymé-Gripp syndrome

scientific article published on 03 November 2019

The dark side of COVID-19: The need of integrated medicine for children with special care needs

scientific article published on 24 June 2020

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review

scientific article published on 8 April 2014

Visual function in Noonan and LEOPARD syndrome.

scientific article published in December 2008

Wolf-Hirschhorn syndrome with improvement of renal function

scientific article published on 01 May 2010

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

scientific article published on 5 November 2014

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