Lista de obras - André Schaller - Dominio Público Uruguay

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

artículo científico publicado en 2017

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

artículo científico publicado en 2015

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

artículo científico publicado en 2019

Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium

artículo científico publicado en 2005

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

scientific article published on 11 June 2018

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

artículo científico publicado en 2007

Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children

artículo científico publicado en 2005

Characterization of the calf thymus hairpin-binding factor involved in histone pre-mRNA 3' end processing.

artículo científico

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

artículo científico publicado en 2017

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

artículo científico publicado en 2013

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

artículo científico publicado en 2011

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

artículo científico publicado en 2017

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

artículo científico publicado en 2014

Functional importance of conserved nucleotides at the histone RNA 3' processing site

artículo científico publicado en 1998

Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium

artículo científico publicado en 2005

Handling mammalian mitochondrial tRNAs and aminoacyl-tRNA synthetases for functional and structural characterization

scientific article published on 01 February 2008

Heterologous expression from the human D-Loop in organello

artículo científico publicado en 2014

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis

artículo científico publicado en 2012

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

artículo científico publicado en 2011

Late-onset severe long QT syndrome.

artículo científico publicado en 2017

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

artículo científico publicado en 2012

Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support

artículo científico publicado en 2005

Mitochondrial encephalopathy with CADASIL-like MRI.

artículo científico publicado en 2007

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

article

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features

artículo científico publicado en 2007

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

artículo científico publicado en 2010

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

artículo científico publicado en 2011

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

artículo científico publicado en 2017

Multiple clinical profiles of families with the short QT syndrome.

artículo científico publicado en 2017

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

artículo científico publicado en 2013

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

artículo científico publicado en 2018

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

artículo científico publicado en 2014

Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins

artículo científico publicado en 2009

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case

artículo científico publicado en 2018

Physiologic cold shock of Moraxella catarrhalis affects the expression of genes involved in the iron acquisition, serum resistance and immune evasion

artículo científico publicado en 2011

Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

artículo científico publicado en 2010

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry

artículo científico publicado en 2006

Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry

artículo científico publicado en 2006

Reduced atrial connexin43 expression after pediatric heart surgery

artículo científico publicado en 2006

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

artículo científico publicado en 2016

Sensitive and rapid detection of ganciclovir resistance by PCR based MALDI-TOF analysis

artículo científico publicado en 2012

Simultaneous quantitative detection of relevant biomarkers in breast cancer by quantitative real-time PCR.

artículo científico publicado en 2006

Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery

scientific article published on 01 September 2006

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

artículo científico publicado en 2009

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

artículo científico publicado en 2004

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results

artículo científico publicado en 2018

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

artículo científico publicado en 2017

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.

artículo científico

Lista de obras de André Schaller

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Age-dependent suppression of SERCA2a mRNA in pediatric atrial myocardium

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Cardiopulmonary bypass reduces atrial Na+-K+-ATPase expression in children

Characterization of the calf thymus hairpin-binding factor involved in histone pre-mRNA 3' end processing.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis

Functional importance of conserved nucleotides at the histone RNA 3' processing site

Gender modulates the expression of calcium-regulating proteins in pediatric atrial myocardium

Handling mammalian mitochondrial tRNAs and aminoacyl-tRNA synthetases for functional and structural characterization

Heterologous expression from the human D-Loop in organello

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

Late-onset severe long QT syndrome.

Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy

Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support

Mitochondrial encephalopathy with CADASIL-like MRI.

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum

Multiple clinical profiles of families with the short QT syndrome.

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Outer membrane porin M35 of Moraxella catarrhalis mediates susceptibility to aminopenicillins

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case

Physiologic cold shock of Moraxella catarrhalis affects the expression of genes involved in the iron acquisition, serum resistance and immune evasion

Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry

Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry

Reduced atrial connexin43 expression after pediatric heart surgery

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

Sensitive and rapid detection of ganciclovir resistance by PCR based MALDI-TOF analysis

Simultaneous quantitative detection of relevant biomarkers in breast cancer by quantitative real-time PCR.

Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery

The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.