Lista de obras -

65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer

artículo científico publicado en 2018

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

artículo científico publicado en 2013

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

artículo científico publicado en 2016

A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.

scientific article published on 17 August 2016

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

artículo científico publicado en 2014

A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

artículo científico publicado en 2007

A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations

scientific article published on 27 February 2019

Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

artículo científico publicado en 2016

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

artículo científico publicado en 2009

Author Correction: Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

scientific article published on 01 March 2019

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

scientific article published on 25 September 2018

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

artículo científico publicado en 2017

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

artículo científico publicado en 2016

Biparental Inheritance of Mitochondrial DNA in Humans

article published in the Proceedings of the National Academy of Sciences of the United States of America

Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.

artículo científico publicado en 2002

Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells.

artículo científico publicado en 2014

Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy

scientific article published on 01 May 2019

Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease' [Reproductive BioMedicine Online 34 (2017) 361-368].

artículo científico publicado en 2017

Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease': [Reproductive BioMedicine Online 34 (2017) 361-368].

artículo científico publicado en 2017

Current advances in Holt-Oram syndrome.

artículo científico publicado en 2002

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

artículo científico publicado en 2016

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

artículo científico publicado en 1999

Four cases with hypoplastic thumbs and encephaloceles

artículo científico publicado en 2002

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region

artículo científico publicado en 2012

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

artículo científico publicado en 2015

Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions.

artículo científico publicado en 2010

Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology

artículo científico publicado en 2018

Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.

artículo científico publicado en 2009

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

artículo científico publicado en 2015

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

artículo científico publicado en 2010

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.

artículo científico publicado en 2017

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

artículo científico publicado en 2017

Metabolic rescue in pluripotent cells from patients with mtDNA disease

artículo científico publicado en 2015

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

artículo científico publicado en 2019

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

artículo científico publicado en 2012

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

artículo científico publicado en 2020

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

artículo científico publicado en 2013

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.

artículo científico publicado en 2016

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets

artículo científico publicado en 2016

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

artículo científico publicado en 2009

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

artículo científico publicado en 2015

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

artículo científico

Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy ⬇️

artículo científico publicado el 1 de octubre de 2011

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

artículo científico publicado en 2017

Phenotypic and functional characterization of Bst+/- mouse retina.

artículo científico publicado en 2015

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

artículo científico publicado en 2015

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

scientific article published on 23 January 2019

Response: First birth following spindle transfer - should we stay or should we go?

artículo científico publicado en 2017

Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene

artículo científico publicado en 2006

Species identification through mitochondrial rRNA genetic analysis.

scientific article published on 13 February 2014

TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner

artículo científico publicado en 2012

The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis

artículo científico publicado en 2017

The current landscape for the treatment of mitochondrial disorders.

artículo científico publicado en 2018

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

artículo científico publicado en 2015

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment

artículo científico publicado en 2008

The spectrum of 4q- syndrome illustrated by a case series.

artículo científico publicado en 2012

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

artículo científico publicado en 2018

Lista de obras de

65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential.

A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations

Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

Author Correction: Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Biparental Inheritance of Mitochondrial DNA in Humans

Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.

Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells.

Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy

Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease' [Reproductive BioMedicine Online 34 (2017) 361-368].

Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease': [Reproductive BioMedicine Online 34 (2017) 361-368].

Current advances in Holt-Oram syndrome.

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

Four cases with hypoplastic thumbs and encephaloceles

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions.

Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology

Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Metabolic rescue in pluripotent cells from patients with mtDNA disease

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy ⬇️

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Phenotypic and functional characterization of Bst+/- mouse retina.

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Response: First birth following spindle transfer - should we stay or should we go?

Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene

Species identification through mitochondrial rRNA genetic analysis.

TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner

The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis

The current landscape for the treatment of mitochondrial disorders.

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment

The spectrum of 4q- syndrome illustrated by a case series.

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing