Lista de obras - Elisa Fazzi - Dominio Público Uruguay

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

artículo científico publicado en 2012

Aicardi-Goutieres syndrome.

artículo científico publicado en 2009

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 1994

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Cerebral cavernous angiomas: an atypical case in infancy.

artículo científico publicado en 1997

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2022

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 1993

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Leber's congenital amaurosis: an update.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 1997

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 1997

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Recovery of visual functions after early acquired occipital damage

scientific article published on 28 February 2008

Ring chromosome 9: An atypical case

artículo científico publicado en 1996

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

artículo científico publicado en 1993

Sleep disturbances in visually impaired toddlers.

artículo científico publicado en 2008

Spectrum of visual disorders in children with cerebral visual impairment

artículo científico publicado en 2007

Stereotyped behaviours in blind children.

artículo científico publicado en 1999

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 1992

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

Typing TREX1 gene in patients with systemic lupus erythematosus

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Visual-perceptual impairment in children with periventricular leukomalacia.

artículo científico publicado en 2004

Lista de obras de Elisa Fazzi

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

Aicardi-Goutieres syndrome.

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

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

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

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

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

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

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

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

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

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

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

Cerebral cavernous angiomas: an atypical case in infancy.

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

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

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

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

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

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

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

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

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

Expanding CEP290 mutational spectrum in ciliopathies

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

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

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

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

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

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

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

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

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

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

Leber's congenital amaurosis: an update.

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

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

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

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

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

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

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

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

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

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

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

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

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

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

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

Prognostic value of umbilical artery Doppler studies in unselected preterm deliveries

Questionnaires as screening tools for children with cerebral visual impairment

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

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

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

Recovery of visual functions after early acquired occipital damage

Ring chromosome 9: An atypical case

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

Sleep disturbances in visually impaired toddlers.

Spectrum of visual disorders in children with cerebral visual impairment

Stereotyped behaviours in blind children.

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

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

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

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

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

Typing TREX1 gene in patients with systemic lupus erythematosus

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

Visual-perceptual impairment in children with periventricular leukomalacia.