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Lista de obras de Thomas Meitinger

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

artículo científico publicado en 2011

52 Genetic Loci Influencing Myocardial Mass

artículo científico publicado en 2016

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

artículo científico publicado en 2015

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33

article

A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila

artículo científico publicado en 2011

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

artículo científico publicado en 2018

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

artículo científico publicado en 2006

A common genetic variant is associated with adult and childhood obesity

artículo científico publicado en 2006

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

article

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

artículo científico publicado en 2015

A familial deletion in the Prader-Willi syndrome region including the imprinting control region

artículo científico publicado en 1996

A familial deletion in the Prader‐Willi syndrome region including the imprinting control region

artículo científico publicado en 1996

A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy

artículo científico publicado en 2008

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

artículo científico publicado en 1996

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

artículo científico publicado en 1995

A genome-wide association meta-analysis on apolipoprotein A-IV concentrations

scientific article published on 12 July 2016

A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project

artículo científico publicado en 2009

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals

article

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy

artículo científico publicado en 2013

A genome-wide association study identifies three loci associated with mean platelet volume

artículo científico publicado en 2008

A genome-wide perspective of genetic variation in human metabolism

artículo científico publicado en 2009

A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes

article

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

artículo científico publicado en 2017

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

artículo científico publicado en 2011

A meta-analysis of gene expression signatures of blood pressure and hypertension

artículo científico publicado en 2015

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

artículo científico publicado en 2012

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level

artículo científico publicado en 2010

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood

artículo científico publicado en 2008

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

artículo científico publicado en 2011

A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors.

artículo científico publicado en 2015

A new family of interspersed repetitive DNA sequences in the mouse genome

artículo científico publicado en 1982

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease

artículo científico publicado en 2016

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

artículo científico publicado en 2006

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis

artículo científico publicado en 1994

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

artículo científico publicado en 2000

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

scholarly article by Dietrich Haubenberger et al published 2007 in Movement Disorders

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

artículo científico publicado en 2011

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

artículo científico publicado en 2007

A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

artículo científico publicado en 2009

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

artículo científico publicado en 1994

A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave

artículo científico publicado en 2014

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy

artículo científico publicado en 1998

ALOX5AP gene and the PDE4D gene in a central European population of stroke patients

artículo científico publicado en 2005

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

artículo científico publicado en 2014

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

Adolescent growth: genes, hormones and the peer group. Proceedings of the 20th Aschauer Soiree, held at Glücksburg castle, Germany, 15th to 17th November 2013.

artículo científico publicado en 2014

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene

artículo científico publicado en 2009

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

artículo científico publicado en 2000

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

artículo científico publicado en 1998

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

article

Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

artículo científico publicado en 2015

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

artículo científico publicado en 1993

Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products

artículo científico publicado en 1998

Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortium

artículo científico publicado en 2012

Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2008

Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the b-myosin heavy chain gene and cardiac arrest in childhood A case report and family study

article

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage

artículo científico publicado en 2013

Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FI

artículo científico publicado en 1998

Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans

artículo científico publicado en 2007

Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypes

artículo científico publicado en 2015

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

artículo científico publicado en 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

artículo científico publicado en 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

artículo científico publicado en 2015

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

artículo científico publicado en 2014

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

article

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

CLOCK gene variants associate with sleep duration in two independent populations

artículo científico publicado en 2010

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

artículo científico publicado en 2017

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

artículo científico publicado en 2015

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

artículo científico publicado en 2007

Cell Specific eQTL Analysis without Sorting Cells

artículo científico publicado en 2015

Cell specific eQTL analysis without sorting cells

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Characterization of circular RNAs in human, mouse and rat hearts

artículo científico publicado en 2016

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

article

Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome

artículo científico publicado en 2005

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

artículo científico publicado en 2015

Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse

scientific journal article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Cohen syndrome diagnosis using whole genome arrays

artículo científico publicado en 2010

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population

article

Common genetic variants associate with serum phosphorus concentration

artículo científico publicado en 2010

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

artículo científico publicado en 2009

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

artículo científico publicado en 2010

Common variants in KCNN3 are associated with lone atrial fibrillation

artículo científico publicado en 2010

Common variants in P2RY11 are associated with narcolepsy

artículo científico publicado en 2010

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

scientific article published on 24 October 2008

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Common variants of LRRK2 are not associated with sporadic Parkinson's disease

scholarly article by Saskia Biskup et al published December 2005 in Annals of Neurology

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

artículo científico publicado en 2014

Comprehensive catalog of European biobanks

artículo científico publicado en 2011

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

artículo científico publicado en 2014

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

artículo científico publicado en 2014

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

artículo científico publicado en 2007

Correction: Genetic Structure of Europeans: A View from the North–East.

artículo científico publicado en 2010

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

artículo científico publicado en 2009

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

Correction: Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study.

artículo científico publicado en 2008

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2015

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

artículo científico publicado en 2012

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

article

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

artículo científico publicado en 2012

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

artículo científico publicado en 1995

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

artículo científico publicado en 2014

Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

artículo científico publicado en 1990

Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

article

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

artículo científico publicado en 1998

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

artículo científico publicado en 2015

DiGeorge syndrome and partial monosomy 10p: case report and review

artículo científico publicado en 1995

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

artículo científico publicado en 1998

Dilution of candidates: the case of iron-related genes in restless legs syndrome

artículo científico publicado en 2012

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery of sexual dimorphisms in metabolic and genetic biomarkers

artículo científico publicado en 2011

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

artículo científico publicado en 2001

Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

artículo científico publicado en 2013

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

artículo científico publicado en 2016

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study

artículo científico publicado en 2016

Effect of genome-wide simultaneous hypotheses tests on the discovery rate.

artículo científico publicado en 2011

Effects of metformin on metabolite profiles and LDL cholesterol in patients with type 2 diabetes

artículo científico publicado en 2015

Electroretinography as a screening method for mutations causing retinal dysfunction in mice

artículo científico publicado en 2004

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

artículo científico publicado en 2016

Erratum: Common variants in P2RY11 are associated with narcolepsy

scholarly article published in Nature Genetics

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

artículo científico publicado en 2016

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

scholarly article published in Nature Genetics

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

artículo científico publicado en 2006

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy

artículo científico publicado en 1995

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

artículo científico publicado en 1992

Exomdiagnostik verändert die Sicht auf Mitochondriopathien

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

artículo científico publicado en 2010

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

artículo científico publicado en 2012

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

artículo científico publicado en 2011

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

articulo cientifico

Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts

artículo científico publicado en 2015

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

artículo científico publicado en 2012

Familial carpal tunnel syndrome: further evidence for a genetic contribution

article

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

artículo científico publicado en 2000

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population

artículo científico publicado en 2007

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

artículo científico

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

artículo científico publicado en 1994

Fifteen Genetic Loci Associated With the Electrocardiographic P Wave

artículo científico publicado en 2017

Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas

artículo científico publicado en 2015

Gene mapping and marker clustering using Shannon's mutual information

artículo científico publicado en 2006

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

artículo científico publicado en 2015

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Gene-gene Interaction Analyses for Atrial Fibrillation

artículo científico publicado en 2016

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

artículo científico publicado en 1992

Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene

artículo científico publicado en 2016

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene

artículo científico publicado en 2016

Genes predict village of origin in rural Europe

artículo científico publicado en 2010

Genetic Diversity in German and European Populations: Looking for Substructures and Genetic Patterns

article

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

artículo científico publicado en 2016

Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery

artículo científico publicado en 2014

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids

artículo científico publicado en 2012

Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy

artículo científico publicado en 2010

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

artículo científico publicado en 2012

Genetic determinants of circulating sphingolipid concentrations in European populations

scientific article published on 02 October 2009

Genetic determinants of serum testosterone concentrations in men.

artículo científico publicado en 2011

Genetic evidence of assortative mating in humans

article

Genetic insights into biological mechanisms governing human ovarian ageing

artículo científico publicado en 2021

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

artículo científico publicado en 2010

Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006

artículo científico publicado en 2009

Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms

artículo científico publicado en 2006

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data

artículo científico publicado en 2009

Genetic variants in RBFOX3 are associated with sleep latency

artículo científico publicado en 2016

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

artículo científico publicado en 2011

Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease

artículo científico publicado en 2009

Genetic variation in members of the leukotriene biosynthesis pathway confer an increased risk of ischemic stroke: a replication study in two independent populations

artículo científico publicado en 2008

Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans

artículo científico publicado en 2008

Genetic variation in the lymphotoxin-alpha pathway and the risk of ischemic stroke in European populations

artículo científico publicado en 2009

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum

artículo científico publicado en 2008

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

artículo científico publicado en 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

artículo científico publicado en 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide association analysis identifies multiple loci related to resting heart rate

artículo científico publicado en 2010

Genome-wide association analysis identifies susceptibility loci for migraine without aura

artículo científico publicado en 2012

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions

artículo científico publicado en 2008

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

artículo científico publicado en 2019

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

artículo científico publicado en 2009

Genome-wide association studies of atrial fibrillation: past, present, and future

artículo científico publicado en 2011

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels

artículo científico publicado en 2010

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

artículo científico publicado en 2014

Genome-wide association study identifies 74 loci associated with educational attainment

artículo científico publicado en 2016

Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23

scholarly article by Jeanette Erdmann et al published 18 November 2010 in European Heart Journal

Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction

artículo científico publicado en 2010

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

artículo científico publicado en 2012

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

artículo científico publicado en 2009

Genome-wide association study in takotsubo syndrome - Preliminary results and future directions

artículo científico publicado en 2017

Genome-wide association study of PR interval

artículo científico publicado en 2010

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

artículo científico publicado en 2010

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

artículo científico publicado en 2007

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

artículo científico publicado en 2014

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

artículo científico publicado en 2014

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

artículo científico publicado en 2009

Genome-wide linkage analysis of serum creatinine in three isolated European populations.

artículo científico publicado en 2009

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

artículo científico publicado en 2013

Genome-wide meta-analysis identifies new susceptibility loci for migraine

artículo científico publicado en 2013

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

artículo científico publicado en 2014

Genome-wide methylation data mirror ancestry information

artículo científico publicado en 2017

Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations

artículo científico publicado en 2009

Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus

artículo científico publicado en 2008

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

artículo científico publicado en 2000

Genomewide association analysis of coronary artery disease

artículo científico publicado en 2007

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

artículo científico publicado en 1997

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

artículo científico publicado en 2006

Geographic distribution and origin of CFTR mutations in Germany

artículo científico publicado en 1996

Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature

artículo científico publicado en 2004

Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

artículo científico publicado en 2015

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

artículo científico publicado en 2012

How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data quality

artículo científico publicado en 2010

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

artículo científico publicado en 2010

Human metabolic individuality in biomedical and pharmaceutical research

artículo científico publicado en 2011

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

artículo científico publicado en 2015

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

artículo científico publicado en 2005

INSIG2 promoter variant, obesity markers and lipid parameters - No association in a large Slavonic Caucasian population sample.

artículo científico publicado en 2010

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

artículo científico publicado en 2017

Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report

artículo científico publicado en 2017

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

article

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

artículo científico publicado en 2011

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

artículo científico publicado en 2006

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

artículo científico publicado en 2017

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

artículo científico publicado en 2017

Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood

artículo científico publicado en 2012

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

artículo científico publicado en 2012

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration

artículo científico publicado en 2014

Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free-flow electrophoresis

article

In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene

article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

artículo científico publicado en 2014

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

artículo científico publicado en 2004

Informatics and Medicine

Informatics and medicine--from molecules to populations

artículo científico publicado en 2008

Integrative analysis of the mitochondrial proteome in yeast

artículo científico publicado en 2004

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen

artículo científico publicado en 1996

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13‐cen

artículo científico publicado en 1996

LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom

scientific article published on 01 November 2001

Lack of Association Between the MEF2A Gene and Myocardial Infarction

article

Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa

artículo científico publicado en 2008

Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy

artículo científico publicado en 1998

Lack of replication in polymorphisms reported to be associated with atrial fibrillation

artículo científico publicado en 2010

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

artículo científico publicado en 2017

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

artículo científico publicado en 2012

Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation

artículo científico publicado en 2009

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

artículo científico publicado en 2011

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

artículo científico publicado en 1992

Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study

artículo científico publicado en 2008

Linkage disequilibrium patterns and tagSNP transferability among European populations

artículo científico publicado en 2005

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27? (DXS255)

scientific article published on 01 February 1989

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval

artículo científico publicado en 1996

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

artículo científico publicado en 2014

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

artículo científico publicado en 2013

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

artículo científico publicado en 2014

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

artículo científico publicado en 1999

Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

artículo científico publicado en 2010

Lymphotoxin-α and galectin-2 SNPs are not associated with myocardial infarction in two different German populations

article

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

artículo científico publicado en 2011

MITOP, the mitochondrial proteome database: 2000 update

artículo científico publicado en 2000

MITOP: database for mitochondria-related proteins, genes and diseases.

artículo científico publicado en 1999

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

artículo científico publicado en 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

artículo científico publicado en 2015

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

artículo científico publicado en 2014

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis

article

Mapping the genetic architecture of gene regulation in whole blood

artículo científico publicado en 2014

Mechanisms for multiple intracellular localization of human mitochondrial proteins

artículo científico publicado en 2004

Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease

artículo científico publicado en 2019

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis identifies six new susceptibility loci for atrial fibrillation

artículo científico publicado en 2012

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

artículo científico publicado en 2009

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

artículo científico publicado en 2016

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

artículo científico publicado en 2013

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

artículo científico publicado en 2013

Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues

artículo científico publicado en 2016

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

artículo científico publicado en 2009

Migraine without aura: genome-wide association analysis identifies several novel susceptibility.

artículo científico publicado en 2013

Migraine without aura: genome-wide association analysis identifies several novel susceptibility. ⬇️

artículo científico publicado en 2013

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

artículo científico publicado en 1995

MitoP2, an integrated database on mitochondrial proteins in yeast and man

artículo científico publicado en 2004

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

artículo científico publicado en 2008

MitoP2: the mitochondrial proteome database--now including mouse data

artículo científico publicado en 2006

Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels

artículo científico publicado en 2015

Mitochondrial genetic variants identified to be associated with BMI in adults

artículo científico publicado en 2014

Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder

artículo científico publicado en 2015

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

artículo científico publicado en 2013

Mitochondriale Erkrankungen

article published in 2012

Mitochondriopathien – neue Trends in Diagnostik und Therapie

Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels

artículo científico publicado en 2010

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

scientific journal article

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

artículo científico publicado en 1993

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

artículo científico publicado en 2019

Multiple regions of alpha-synuclein are associated with Parkinson's disease

artículo científico publicado en 2005

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

Mutation analysis in the diagnosis of cystic fibrosis

artículo científico publicado en 1993

Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

artículo científico publicado en 2007

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

artículo científico publicado en 2011

Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

artículo científico publicado en 2000

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

artículo científico publicado en 2000

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

artículo científico publicado en 2000

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

artículo científico publicado en 2006

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

article

Mutations in the candidate gene for Norrie disease

artículo científico publicado en 1992

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

artículo científico publicado en 2014

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

artículo científico publicado en 2001

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

artículo científico publicado en 2011

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

artículo científico publicado en 1998

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

artículo científico publicado en 2012

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

NEK1 mutations in familial amyotrophic lateral sclerosis

artículo científico publicado en 2016

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

artículo científico

Narcolepsy is strongly associated with the T-cell receptor alpha locus

artículo científico publicado en 2009

Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting

artículo científico publicado en 2009

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

artículo científico publicado en 2016

Neurogenetics--the challenge for neurology. Part 1. Gene mapping and gene diagnostics

artículo científico publicado en 1991

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

New susceptibility locus for coronary artery disease on chromosome 3q22.3.

artículo científico publicado en 2009

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders

artículo científico publicado en 2013

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

artículo científico publicado en 2013

No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents

article

Nonviral glial cell-derived neurotrophic factor gene transfer enhances survival of cultured dopaminergic neurons and improves their function after transplantation in a rat model of Parkinson's disease.

artículo científico publicado en 2000

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

artículo científico publicado en 1992

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

artículo científico publicado en 2010

Novel biomarkers for pre-diabetes identified by metabolomics

artículo científico publicado en 2012

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

artículo científico publicado en 2014

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

artículo científico publicado en 2018

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2014

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

artículo científico publicado en 2016

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

artículo científico publicado en 2018

PSEA: Phenotype Set Enrichment Analysis--a new method for analysis of multiple phenotypes

artículo científico publicado en 2012

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

artículo científico publicado en 2008

Pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2012

Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease

artículo científico publicado en 2010

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

artículo científico publicado en 1997

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

artículo científico

Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

artículo científico publicado en 2004

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans.

artículo científico publicado en 2008

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

scientific article (publication date: 2001)

Prevalence of refractive error in Europe: the European Eye Epidemiology (E(3)) Consortium

artículo científico publicado en 2015

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany

artículo científico publicado en 2006

Procolipase gene: no association with early-onset obesity or fat intake

artículo científico publicado en 2009

Proteome analysis of mitochondrial outer membrane from Neurospora crassa

artículo científico publicado en 2006

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

artículo científico publicado en 2015

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

artículo científico publicado en 2013

Rare variants in LRRK1 and Parkinson's disease

artículo científico publicado en 2013

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

artículo científico publicado en 2015

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome.

artículo científico publicado en 2014

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

artículo científico publicado en 2002

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

artículo científico publicado en 2018

Replication of restless legs syndrome loci in three European populations

scientific article published on 10 March 2009

Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

Reply

Report of the second international workshop on human chromosome 10 mapping 1997

artículo científico publicado en 1997

Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"

artículo científico publicado en 2016

Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

scientific journal article

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate

scholarly article by Florian D. Vogl et al published 2006 in Movement Disorders

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

artículo científico publicado en 2001

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

artículo científico publicado en 2010

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

artículo científico publicado en 2008

SNP-based analysis of genetic substructure in the German population.

artículo científico publicado en 2006

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

artículo científico publicado en 2008

Sampling GWAS subjects from risk populations

artículo científico publicado en 2011

Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.

artículo científico publicado en 2015

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

artículo científico publicado en 2003

Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke

artículo científico publicado en 2009

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

artículo científico publicado en 2011

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

artículo científico publicado en 2016

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

artículo científico publicado en 2009

Single-nucleotide polymorphisms of MMP-2 gene in stroke subtypes

artículo científico publicado en 2008

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Somatic gene therapy in animal models of Parkinson's disease.

artículo científico publicado en 1999

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

artículo científico publicado en 2013

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene

scientific journal article

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly

artículo científico publicado en 2003

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.

artículo científico publicado en 2008

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

artículo científico publicado en 2015

Systematic identification of trans eQTLs as putative drivers of known disease associations

artículo científico publicado en 2013

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia

artículo científico publicado en 2005

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

artículo científico publicado en 2014

Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array

artículo científico publicado en 2009

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation

artículo científico publicado en 2004

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The Mouse Pink-Eyed Dilution Gene: Association with Hypopigmentation in Prader-Willi and Angelman Syndromes and with Human OCA2

article

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

artículo científico publicado en 2006

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

artículo científico publicado en 2007

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

artículo científico publicado en 2001

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

artículo científico publicado en 2007

The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study

article

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

artículo científico publicado en 2003

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome

artículo científico publicado en 2005

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1

artículo científico publicado en 1995

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

artículo científico publicado en 2007

The many faces of paediatric mitochondrial disease on neuroimaging

artículo científico publicado en 2016

The mitochondrial proteome database: MitoP2.

artículo científico publicado en 2009

The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG)

article

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

artículo científico publicado en 1999

The role of biobanking in rare diseases: European consensus expert group report

artículo científico

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

artículo científico publicado en 2015

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure

artículo científico

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

artículo científico publicado en 2010

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

artículo científico publicado en 2014

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online

article

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome

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