List of works - Chiara Pantaleoni

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

scientific article

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

scientific article published on 30 January 2007

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Late neuropsychological and behavioural outcome of children surgically treated for craniopharyngioma

scientific article published in April 1998

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria

scientific article published on 10 June 2011

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

scientific article published in June 2018

Cognitive and behavioural effects of migraine in childhood and adolescence

scientific article published in May 2006

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

scientific article published in April 2005

Intrathecal methotrexate affects cognitive function in children with medulloblastoma

scientific article published in July 2002

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

scientific article published in October 2017

Unilateral frontal lobe epilepsy affects executive functions in children

scientific article published in October 2005

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

Impairment of neuropsychological functions in children with medulloblastomas and astrocytomas in the posterior fossa

scientific article published in April 1989

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

scientific article

Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes

scientific article published on 21 February 2008

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

scientific article

Sedation of neurologically impaired children undergoing MRI: a sequential approach

scientific article

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

scientific article published on 21 July 2012

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

scientific article

Radiosurgery for cerebral AVMs in children and adolescents: the neurobehavioral outcome.

scientific article published in February 1997

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

scientific article published on 28 October 2015

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

scientific article published in October 2009

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

scientific article published on 10 April 2008

Aicardi-Goutières syndrome: description of a late onset case

scientific article published on August 2008

Hemispheric specialization in children with unilateral epileptic focus, with and without computed tomography-demonstrated lesion

scientific article published on 01 January 1993

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

scientific article published on 24 September 2013

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

scientific article published on 01 December 1998

Combined treatment modality for medulloblastoma in childhood: effects on neuropsychological functioning

scientific article published in February 1991

MEF2C deletions and mutations versus duplications: a clinical comparison.

scientific article

Congenital muscular dystrophies with cognitive impairment. A population study.

scientific article published in September 2010

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

scientific article

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy

scientific article published in January 1993

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

scientific article published on 01 December 2008

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

scientific article published on 18 October 2012

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

scientific article

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

scientific article published on January 2016

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

scientific article published on 5 October 2015

Diagnostic approach to cerebellar disease in children

scientific article published in November 2005

Another patient with MECP2 mutation without classic Rett syndrome phenotype

scientific article published on 01 May 2005

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

scientific article published on 9 January 2013

Intelligence outcome in children with shunted hydrocephalus of different etiology

scientific article published in January 1994

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

scientific article

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

scientific article published on 26 September 2017

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

scientific article published on 22 October 2015

List of works by Chiara Pantaleoni

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Late neuropsychological and behavioural outcome of children surgically treated for craniopharyngioma

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Cognitive and behavioural effects of migraine in childhood and adolescence

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Intrathecal methotrexate affects cognitive function in children with medulloblastoma

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Unilateral frontal lobe epilepsy affects executive functions in children

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Impairment of neuropsychological functions in children with medulloblastomas and astrocytomas in the posterior fossa

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Sedation of neurologically impaired children undergoing MRI: a sequential approach

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Radiosurgery for cerebral AVMs in children and adolescents: the neurobehavioral outcome.

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

Aicardi-Goutières syndrome: description of a late onset case

Hemispheric specialization in children with unilateral epileptic focus, with and without computed tomography-demonstrated lesion

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

Combined treatment modality for medulloblastoma in childhood: effects on neuropsychological functioning

MEF2C deletions and mutations versus duplications: a clinical comparison.

Congenital muscular dystrophies with cognitive impairment. A population study.

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Diagnostic approach to cerebellar disease in children

Another patient with MECP2 mutation without classic Rett syndrome phenotype

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Intelligence outcome in children with shunted hydrocephalus of different etiology

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum