Lista de obras - Salvatore Savasta - Dominio Público Uruguay

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

A rare cause of recurrent spontaneous pneumothorax

artículo científico publicado en 2011

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

artículo científico publicado en 2012

Benign convulsions associated with mild gastroenteritis: a multicenter clinical study

scientific article published on 10 December 2010

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

artículo científico publicado en 2011

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

artículo científico publicado en 2015

Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument

artículo científico publicado en 2014

Clinical variability in children with dolichoarteriopathies of the internal carotid artery

scientific article published on 07 November 2019

Ehlers-Danlos syndrome and neurological features: a review.

artículo científico publicado en 2010

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.

artículo científico publicado en 2013

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

artículo científico publicado en 2015

Gelastic epilepsy without hypothalamic hamartoma: three additional cases

artículo científico publicado en 2014

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS)

artículo científico publicado en 1999

Gradenigo's syndrome with abscess of the petrous apex in pediatric patients: what is the best treatment?

scientific article published on 20 August 2019

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome ⬇️

artículo científico publicado el 1 de mayo de 1992

Holoprosencephaly with neurogenic hypernatremia: a new case.

artículo científico publicado en 2007

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

artículo científico publicado en 2014

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

artículo científico publicado en 2007

Infantile mitochondria encephalomyopathies: report on 4 cases

artículo científico publicado en 1993

Italian consensus conference on epilepsy and pregnancy, labor and puerperium.

artículo científico publicado en 2009

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

artículo científico publicado en 2013

Long-term follow-up in children with benign convulsions associated with gastroenteritis

artículo científico publicado en 2014

Long-term outcome of epilepsy in Kabuki syndrome.

artículo científico publicado en 2011

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

artículo científico publicado en 2014

Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.

artículo científico publicado en 2014

Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.

artículo científico publicado en 2012

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

artículo científico publicado en 2006

Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis

artículo científico publicado el 1 de junio de 1992

Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients

scientific article published on 01 November 2008

Paediatric clinically isolated syndromes: report of seven cases, differential diagnosis and literature review.

artículo científico publicado en 2015

Pai syndrome: a review

artículo científico publicado en 2020

Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

artículo científico publicado en 2014

Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

artículo científico publicado en 2007

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses

artículo científico publicado en 1990

Recurrent chest pain as the presenting manifestation of spinal meningioma

scientific article published on 01 September 1995

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

artículo científico publicado en 1996

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

artículo científico publicado en 2012

Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.

artículo científico publicado en 2014

Stickler syndrome associated with epilepsy: report of three cases.

artículo científico publicado en 2015

Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

artículo científico publicado en 2007

Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

scientific article published on 01 January 1989

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

artículo científico publicado en 1994

Topiramate in frontal lobe epilepsy.

artículo científico publicado en 2007

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports

artículo científico publicado en 2016

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.

artículo científico publicado en 2015

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age

scientific article published on 09 January 2010

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

artículo científico publicado en 2008

Lista de obras de Salvatore Savasta

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

A rare cause of recurrent spontaneous pneumothorax

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

Benign convulsions associated with mild gastroenteritis: a multicenter clinical study

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument

Clinical variability in children with dolichoarteriopathies of the internal carotid artery

Ehlers-Danlos syndrome and neurological features: a review.

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

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

Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

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

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

Gelastic epilepsy without hypothalamic hamartoma: three additional cases

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS)

Gradenigo's syndrome with abscess of the petrous apex in pediatric patients: what is the best treatment?

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome ⬇️

Holoprosencephaly with neurogenic hypernatremia: a new case.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Infantile mitochondria encephalomyopathies: report on 4 cases

Italian consensus conference on epilepsy and pregnancy, labor and puerperium.

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

Long-term follow-up in children with benign convulsions associated with gastroenteritis

Long-term outcome of epilepsy in Kabuki syndrome.

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.

Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis

Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients

Paediatric clinically isolated syndromes: report of seven cases, differential diagnosis and literature review.

Pai syndrome: a review

Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses

Recurrent chest pain as the presenting manifestation of spinal meningioma

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.

Stickler syndrome associated with epilepsy: report of three cases.

Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

Topiramate in frontal lobe epilepsy.

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16