List of works - Josef Högel

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

scientific article published on 01 March 2015

Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts

scientific article published on 2 August 2011

Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue

Accuracy Evaluation of Four Blood Glucose Monitoring Systems in Unaltered Blood Samples in the Low Glycemic Range and Blood Samples in the Concentration Range Defined by ISO 15197.

scientific article published on 19 May 2015

Accuracy of pulse oximetry readings in an animal model of low perfusion caused by emerging pneumonia and sepsis.

scientific article published on 13 January 2004

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

scientific article published on 29 July 2016

Assessment of genotoxic effects and changes in gene expression in humans exposed to formaldehyde by inhalation under controlled conditions.

scientific article

Bioavailability of β-cryptoxanthin is greater from pasteurized orange juice than from fresh oranges - a randomized cross-over study

scientific article published on 20 July 2015

Carotenoids are more bioavailable from papaya than from tomato and carrot in humans: a randomised cross-over study

scientific article

Characterization of the genotoxic potential of formaldehyde in V79 cells

scientific article published on 13 September 2007

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

Clinicopathologic correlations of genomic gains and losses in follicular lymphoma

scientific article published in December 2002

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

scientific article

Consumption of imipenem correlates with beta-lactam resistance in Pseudomonas aeruginosa

scientific article

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

scientific article published on 28 May 2009

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

scientific article published on 15 August 2015

Decreased accuracy of pulse oximetry measurements during low perfusion caused by sepsis: Is the perfusion index of any value?

scientific article published on 30 June 2006

Different rates of telomere attrition in peripheral lymphocytes in a pair of dizygotic twins with hematopoietic chimerism

scientific article published on 24 July 2008

Distinct chromosomal imbalances in pleomorphic and in high-grade dedifferentiated liposarcomas

scientific article

Do orofacial clefts represent different genetic entities?

scientific article published on 01 January 2015

Dysfunction of the MDM2/p53 axis is linked to premature aging

scientific article published on 28 August 2017

Effect of aggregation form on bioavailability of zeaxanthin in humans: a randomised cross-over study

scientific article published in November 2017

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

scientific article published on 10 July 2018

Frequency of congenital dyserythropoietic anemias in Europe

scientific article

Further investigations on the modified comet assay for measuring aphidicolin-block nucleotide excision repair

scientific article

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

scientific article (publication date: 24 April 2009)

Genetic and environmental risk factors for submucous cleft palate

scientific article published on 01 April 2012

Genetic polymorphisms and the effect of cigarette smoking in the comet assay

scientific article published on 21 July 2005

Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD.

scientific article published on 18 September 2010

Genotypes of amyotrophic lateral sclerosis in Mongolia

scientific article published on 29 July 2019

Glimepiride treatment and IGF-I in adolescents with type 1 diabetes: a prospective, randomized, double-blind, placebo-controlled study

scientific article published in April 2003

Hydrolyzed protein accelerates feeding advancement in very low birth weight infants

scientific article published in December 2002

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

scientific article published on 20 August 2012

Immune phenotypes predict survival in patients with glioblastoma multiforme.

scientific article

Insulin resistance (HOMA) in relation to plasma cortisol, IGF-I and IGFBP-3. A study in normal short-statured and GH-deficient children

scientific article published in January 2002

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

scientific article published in October 2010

Investigations of potential susceptibility toward formaldehyde-induced genotoxicity

scientific article published on 13 March 2012

Lymphocytes of type 2 diabetic women carry a high load of stable chromosomal aberrations: a novel risk factor for disease-related early death

scientific article published on 23 July 2008

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

scientific article

Normobaric Intermittent Hypoxia over 8 Months Does Not Reduce Body Weight and Metabolic Risk Factors--a Randomized, Single Blind, Placebo-Controlled Study in Normobaric Hypoxia and Normobaric Sham Hypoxia

scientific article published on 20 May 2015

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

scientific article

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

scientific article published on 4 December 2013

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.

scientific article published on 3 January 2014

Quantifying Telomere Lengths of Human Individual Chromosome Arms by Centromere-Calibrated Fluorescence in Situ Hybridization and Digital Imaging ⬇️

scientific article published on November 1, 2003

Re-evaluation of a reported increased micronucleus frequency in lymphocytes of workers occupationally exposed to formaldehyde.

scientific article

Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.

scientific article published on 06 March 2006

Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).

scientific article published on January 2006

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population

scientific article published on 27 June 2012

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

scientific article

The effect of smoking on DNA effects in the comet assay: a meta-analysis

scientific article published on 09 November 2005

The impact of comorbidity on the overall survival and the cause of death in patients after colorectal cancer resection

scientific article published on 30 April 2002

The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

scientific article published on 26 April 2010

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

scientific article published on 23 January 2012

Urinary excretion of Citrus flavanones and their major catabolites after consumption of fresh oranges and pasteurized orange juice: A randomized cross-over study.

scientific article

List of works by Josef Högel

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate

Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts

Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue

Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue

Accuracy Evaluation of Four Blood Glucose Monitoring Systems in Unaltered Blood Samples in the Low Glycemic Range and Blood Samples in the Concentration Range Defined by ISO 15197.

Accuracy of pulse oximetry readings in an animal model of low perfusion caused by emerging pneumonia and sepsis.

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Assessment of genotoxic effects and changes in gene expression in humans exposed to formaldehyde by inhalation under controlled conditions.

Bioavailability of β-cryptoxanthin is greater from pasteurized orange juice than from fresh oranges - a randomized cross-over study

Carotenoids are more bioavailable from papaya than from tomato and carrot in humans: a randomised cross-over study

Characterization of the genotoxic potential of formaldehyde in V79 cells

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

Clinicopathologic correlations of genomic gains and losses in follicular lymphoma

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

Consumption of imipenem correlates with beta-lactam resistance in Pseudomonas aeruginosa

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

Decreased accuracy of pulse oximetry measurements during low perfusion caused by sepsis: Is the perfusion index of any value?

Different rates of telomere attrition in peripheral lymphocytes in a pair of dizygotic twins with hematopoietic chimerism

Distinct chromosomal imbalances in pleomorphic and in high-grade dedifferentiated liposarcomas

Do orofacial clefts represent different genetic entities?

Dysfunction of the MDM2/p53 axis is linked to premature aging

Effect of aggregation form on bioavailability of zeaxanthin in humans: a randomised cross-over study

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

Frequency of congenital dyserythropoietic anemias in Europe

Further investigations on the modified comet assay for measuring aphidicolin-block nucleotide excision repair

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

Genetic and environmental risk factors for submucous cleft palate

Genetic polymorphisms and the effect of cigarette smoking in the comet assay

Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD.

Genotypes of amyotrophic lateral sclerosis in Mongolia

Glimepiride treatment and IGF-I in adolescents with type 1 diabetes: a prospective, randomized, double-blind, placebo-controlled study

Hydrolyzed protein accelerates feeding advancement in very low birth weight infants

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

Immune phenotypes predict survival in patients with glioblastoma multiforme.

Insulin resistance (HOMA) in relation to plasma cortisol, IGF-I and IGFBP-3. A study in normal short-statured and GH-deficient children

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Investigations of potential susceptibility toward formaldehyde-induced genotoxicity

Lymphocytes of type 2 diabetic women carry a high load of stable chromosomal aberrations: a novel risk factor for disease-related early death

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

Normobaric Intermittent Hypoxia over 8 Months Does Not Reduce Body Weight and Metabolic Risk Factors--a Randomized, Single Blind, Placebo-Controlled Study in Normobaric Hypoxia and Normobaric Sham Hypoxia

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.

Quantifying Telomere Lengths of Human Individual Chromosome Arms by Centromere-Calibrated Fluorescence in Situ Hybridization and Digital Imaging ⬇️

Re-evaluation of a reported increased micronucleus frequency in lymphocytes of workers occupationally exposed to formaldehyde.

Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.

Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

The effect of smoking on DNA effects in the comet assay: a meta-analysis

The impact of comorbidity on the overall survival and the cause of death in patients after colorectal cancer resection

The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

Urinary excretion of Citrus flavanones and their major catabolites after consumption of fresh oranges and pasteurized orange juice: A randomized cross-over study.