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List of works by Elisa Fazzi

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

scientific article

Aicardi-Goutieres syndrome.

scientific article

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

scientific article published on 23 July 2009

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

scientific article published on 20 February 2008

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

scientific article

Antenatal and delivery risk factors simultaneously associated with neonatal death and cerebral palsy in preterm infants.

scientific article published in April 1997

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function.

scientific article published on 14 February 2006

Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up

scientific article published on 01 December 1994

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

scientific article published on 20 December 2013

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.

scientific article

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

scientific article published on 2 July 2008

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

scientific article

Cerebral cavernous angiomas: an atypical case in infancy.

scientific article published in July 1997

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

scientific article published on 4 January 2008

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

scientific article published on September 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function.

scientific article published in November 2005

Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia

scientific article published in March 2007

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

scientific article published on 9 March 2009

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

scientific article published on 31 August 2007

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

scientific article published on 09 March 2022

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

scientific article published on 23 August 2011

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Factors predicting the efficacy of botulinum toxin-A treatment of the lower limb in children with cerebral palsy

scientific article published on 01 August 2005

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome

scientific article

Fetal growth and infant neurodevelopmental outcome after preterm premature rupture of membranes

scientific article published on 01 June 2004

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

scientific article published on 30 March 2014

Improving upper limb motor functions through action observation treatment: a pilot study in children with cerebral palsy

scientific article published on 06 July 2012

Infant neurodevelopmental outcome in pregnancies complicated by gestational hypertension and intra-uterine growth retardation

scientific article published on 01 January 1993

Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants

scientific article published on 11 March 2009

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

scientific article

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

scientific article

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

scientific article

Leber's congenital amaurosis: an update.

scientific article

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

scientific article

Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants

scientific article published in October 1997

Molecular and clinical characterization of albinism in a large cohort of Italian patients

scientific article

Multisite trial on efficacy of constraint-induced movement therapy in children with hemiplegia: study design and methodology

scientific article published on 01 March 2009

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

scientific article published on 6 July 2007

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects

scientific article published on 19 June 2012

Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.

scientific article published in October 1997

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.

scientific article published on 7 April 2016

Pharmacological Treatment of Anorexia Nervosa: A Retrospective Study in Preadolescents and Adolescents

scientific article published on 19 July 2007

Prognostic value of umbilical artery Doppler studies in unselected preterm deliveries

scientific article published on 01 March 2005

Questionnaires as screening tools for children with cerebral visual impairment

scientific article published on 21 February 2020

Rates of neonatal death and cerebral palsy associated with fetal growth restriction among very low birthweight infants. A temporal analysis.

scientific article published on 2 June 2006

Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection

scientific article

Reach on sound: A key to object permanence in visually impaired children

scientific article published on 12 February 2011

Recovery of visual functions after early acquired occipital damage

scientific article published on 28 February 2008

Ring chromosome 9: An atypical case

scientific article published on 01 May 1996

Severity of abruptio placentae and neurodevelopmental outcome in low birth weight infants.

scientific article published in November 1993

Sleep disturbances in visually impaired toddlers.

scientific article published in October 2008

Spectrum of visual disorders in children with cerebral visual impairment

scientific article

Stereotyped behaviours in blind children

scientific article published in December 1999

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

scientific article published on 13 May 2013

The Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload

scientific article published on 15 April 2011

The influence of presentation and method of delivery on neonatal mortality and infant neurodevelopmental outcome in nondiscordant low-birthweight ( < 2500 g) twin gestations

scientific article published on 01 December 1992

Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings

scientific article published in January 2005

Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity.

scientific article

Typing TREX1 gene in patients with systemic lupus erythematosus

scientific article

Unimanual and bimanual intensive training in children with hemiplegic cerebral palsy and persistence in time of hand function improvement: 6-month follow-up results of a multisite clinical trial

scientific article published on 10 May 2012

Visual-perceptual impairment in children with periventricular leukomalacia

scientific article published in December 2004

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