Lista de obras - Fernando Scaglia - Dominio Público Uruguay

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

artículo científico publicado en 2011

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders ⬇️

artículo científico publicado el 6 de julio de 2012

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

artículo científico publicado en 2013

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

artículo científico publicado en 2010

Detection of clinically relevant exonic copy-number changes by array CGH.

artículo científico publicado en 2010

Disorders of carnitine biosynthesis and transport

artículo científico

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

artículo científico publicado en 2019

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

artículo científico publicado en 2014

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

artículo científico publicado en 2016

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

artículo científico publicado en 2006

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

artículo científico

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

artículo científico publicado en 2010

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome

artículo científico publicado en 2014

Mitochondrial Cardiomyopathies

artículo científico publicado en 2016

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

artículo científico publicado en 2013

Mitochondrial DNA maintenance defects

artículo científico publicado en 2017

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

artículo científico publicado en 2010

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

artículo científico publicado en 2012

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

artículo científico publicado en 2017

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

artículo científico publicado en 2010

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

artículo científico publicado en 2009

Response to Newman et al.

artículo científico publicado en 2017

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

artículo científico publicado en 2012

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

artículo científico publicado en 2020

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

artículo científico publicado en 2013

Therapies for mitochondrial diseases and current clinical trials

artículo científico publicado en 2017

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

RAEDERICHNUS DONDASI A NEW TRACE FOSSIL FROM THE EARLY PALEOZOIC OF ARGENTINA REVEALS SHOALING BEHAVIOR IN EARLY FISH ⬇️

artículo científico publicado en 2022

Lista de obras de Fernando Scaglia

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders ⬇️

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants

Detection of clinically relevant exonic copy-number changes by array CGH.

Disorders of carnitine biosynthesis and transport

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Lessons learned from additional research analyses of unsolved clinical exome cases

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome

Mitochondrial Cardiomyopathies

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

Mitochondrial DNA maintenance defects

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Reanalysis of Clinical Exome Sequencing Data

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Response to Newman et al.

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

Therapies for mitochondrial diseases and current clinical trials

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

RAEDERICHNUS DONDASI A NEW TRACE FOSSIL FROM THE EARLY PALEOZOIC OF ARGENTINA REVEALS SHOALING BEHAVIOR IN EARLY FISH ⬇️