Lista de obras - Jukka S Moilanen - Dominio Público Uruguay

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

artículo científico publicado en 2005

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

artículo científico publicado en 2017

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

artículo científico publicado en 2017

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

scientific article published on 28 January 2022

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

artículo científico publicado en 2006

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

artículo científico publicado en 2014

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

scholarly article by Reetta Hinttala published in September 2012

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

artículo científico publicado en 2017

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

artículo científico publicado en 2014

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

artículo científico publicado en 2018

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

artículo científico publicado en 2019

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

artículo científico publicado en 2014

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

scholarly article published 28 May 2018

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

artículo científico publicado en 2019

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

artículo científico publicado en 2012

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

artículo científico publicado en 1998

Epidemiology of early-onset Parkinson's disease in Finland

artículo científico publicado en 2015

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

artículo científico publicado en 2013

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

artículo científico publicado en 2019

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

artículo científico publicado en 2017

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms

artículo científico publicado en 2015

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

artículo científico publicado en 2007

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

artículo científico publicado en 2017

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

artículo científico publicado en 2008

Human Chromosome Y and Haplogroups; introducing YDHS Database

artículo científico publicado en 2015

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

artículo científico publicado en 2016

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

artículo científico publicado en 2003

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J

artículo científico publicado en 2003

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

artículo científico publicado en 2004

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

artículo científico publicado en 2006

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

artículo científico publicado en 2012

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

artículo científico publicado en 2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

artículo científico publicado en 2012

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

artículo científico publicado en 2018

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

scientific article published on 25 May 2018

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

artículo científico publicado en 2016

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

artículo científico publicado en 2017

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

artículo científico publicado en 2018

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

artículo científico publicado en 2003

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

artículo científico publicado en 2019

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

artículo científico publicado en 2007

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

artículo científico publicado en 2016

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

artículo científico publicado en 2001

Sequence variation in the tRNA genes of human mitochondrial DNA.

artículo científico publicado en 2005

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

artículo científico publicado en 2013

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

artículo científico publicado en 2015

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

artículo científico publicado en 2013

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review

artículo científico publicado en 2020

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

artículo científico publicado en 2016

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims

artículo científico publicado en 2013

Lista de obras de Jukka S Moilanen

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Biogenesis of the mitochondrial respiratory chain in children with severe multiorgan disorders

Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Clinical and genetic characteristics of late-onset Huntington's disease

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Epidemiology of early-onset Parkinson's disease in Finland

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

Human Chromosome Y and Haplogroups; introducing YDHS Database

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

Sequence variation in the tRNA genes of human mitochondrial DNA.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims