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List of works by Angela Peron

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

scientific article published on 3 December 2016

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

scientific article published on 18 August 2015

Aortic dilation in Sotos syndrome: An underestimated feature?

scientific article published on 14 April 2020

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

scientific article

Current concepts on epilepsy management in tuberous sclerosis complex

scientific article published on 26 September 2018

Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in Tsc1 and Tsc2.

scientific article published on 9 February 2018

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

scientific article published on 7 April 2016

Dramatic relapse of seizures after everolimus withdrawal

scientific article published on 3 August 2017

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

scientific article published on 29 January 2018

Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome

scientific article published on 15 December 2016

Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background

scientific article published on 27 March 2020

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

scientific article published on 11 May 2012

Epilepsy in ring chromosome 20 syndrome

scientific article

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice

article

Glioblastoma multiforme in a child with tuberous sclerosis complex

scientific article published on 6 May 2015

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

article

Hot water epilepsy and SYN1 variants

scientific article published on 01 November 2018

Hot water epilepsy: a video case of European boy with positive family history and subsequent non-reflex epilepsy

scientific article published on 01 March 2014

Ictal signs in tuberous sclerosis complex: Clinical and video-EEG features in a large series of recorded seizures

scientific article published on 12 June 2018

Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature

article

Lennox-Gastaut syndrome in adulthood: Long-term clinical follow-up of 38 patients and analysis of their recorded seizures.

scientific article published on 7 November 2017

Long-term outcome of epilepsy with onset in the first three years of life: Findings from a large cohort of patients

scientific article

Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

scientific article published on 28 July 2017

Medical care of adolescents and women with Rett syndrome: An Italian study

article

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype

scientific article published on 14 January 2020

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis

scientific article published on 06 April 2015

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature

scientific article published on 21 March 2020

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

scientific article published on 24 July 2019

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

scientific article published on 26 October 2020

Prenatal and postnatal findings in five cases of Fryns syndrome

article published in 2014

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

scientific article published on 01 November 2018

Rhinencephalon changes in tuberous sclerosis complex

scientific article published on 17 June 2018

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype

scientific article published on 29 July 2013

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

scientific article published on 07 September 2020

Tuberous sclerosis complex

scientific article published on 01 September 2018

Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19: The experience of a TSC clinic in Italy

scientific article published on 17 August 2020

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis

scientific article

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