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List of works by Joerg T. Epplen

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

scientific article

(CAC)5, a very informative oligonucleotide probe for DNA fingerprinting ⬇️

scientific article published on June 10, 1988

(GTG)5 allows the distinction between different isolates of the nematode Caenorhabditis elegans

scientific article published on 01 July 1996

2. A Multilocus DNA Fingerprint with Built-in Security Devices

scientific article published on 01 July 1994

A German family with glucocorticoid-remediable aldosteronism

scientific article published on 3 February 2007

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

scientific article published on 15 March 2016

A Polymorphism in the CD14 Gene is Associated with Crohn Disease

article

A Polymorphism of the Bactericidal/Permeability Increasing Protein (BPI) Gene Is Associated With Crohn??s Disease

article

A Tyrosinase missense mutation causes albinism in the Wistar rat

scientific journal article

A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease

scientific article published in October 2005

A complex composed of at least two HeLa nuclear proteins protects preferentially one DNA strand of the simple (gt)n(ga)m containing region of intron 2 inHLA-DRB-genes

article

A complex containing at least one zinc dependent HeLa nuclear protein binds to the intronic (gaa)(n) block of the frataxin gene.

scientific article

A gel retardation assay system for studying protein binding to simple repetitive DNA sequences

scientific article published on 01 January 1992

A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers

article

A genome-derived (gaa.ttc)24 trinucleotide block binds nuclear protein(s) specifically and forms triple helices.

scientific article

A highly homologous T-cell receptor beta-chain variable region is expressed in mouse and human T cells

scientific article published in January 1985

A homologous beta-chain variable element in rat, mouse, and human T-cell receptors

scientific article published in January 1988

A microsatellite (BOBT24) located between the bovine IL4 and IL13 loci is polymorphic in cattle and goat

scientific article published on 01 June 1996

A newborn with Pierre Robin sequence after preconceptional mitoxantrone exposure of a female with multiple sclerosis

scientific article published on 20 May 2011

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

scientific article

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

scientific article (publication date: June 2003)

A novelMSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

scientific article published on 01 February 2006

A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibility and disease severity in patients with multiple sclerosis

article

A polymorphism in the IL11 gene is associated with ulcerative colitis

article

A polymorphism in the macrophage migration inhibitory factor gene is involved in the genetic predisposition of Crohn's disease and associated with cumulative steroid doses

article

A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene.

scientific article

A promotor polymorphism in the Interleukin 11 gene is associated with chronic obstructive pulmonary disease

scientific article published in March 2004

A rare form of narcolepsy (HLA-DR2-) shows possible association with (functionally relevant) alpha-interferon gene polymorphisms.

scientific article

ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease.

scientific article

AZFc region of the Y chromosome shows singular structural organization

scientific article published on 7 April 2010

Aberrant MN bloodgroup inheritance in a German family: A ‘silent’ allele?

article

Activation of NPY-Y2 receptors ameliorates disease pathology in the R6/2 mouse and PC12 cell models of Huntington's disease.

scientific article published on 5 January 2018

Acute effects of delta9-tetrahydrocannabinol on the auditory evoked mismatch negativity are modulated by the NRG1 gene

scientific article published on 25 June 2010

Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.

scientific article published on 30 May 2010

Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care

scientific article published on 01 July 2001

Altered electrophoretic behavior of DNA due to short-time UV-B irradiation

scientific article published on 01 December 1994

Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome

scientific article published on 01 April 1994

An HLA-DRB alpha-helix motif shared by DR11 and DR8 alleles is implicated in the pluriallelic restriction of peptide-specific T-cell lines.

scientific article published on August 1994

An ovine lymphocyte antigen is associated with reduced faecal egg counts in four-month-old lambs following natural, predominantly Ostertagia circumcincta infection

scientific article published on 01 April 1996

An ovine major histocompatibility complex DRB1 allele is associated with low faecal egg counts following natural, predominantly Ostertagia circumcincta infection.

scientific article published in July 1995

Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

scientific article

Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

article

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

scientific article published on 18 May 2016

Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients

scientific article published on 28 September 2014

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

scientific article published on 3 January 2015

Analysis of the rat major histocompatibility system by Southern blot hybridization

scientific article published on 01 February 1985

Analysis of variation in the IL7RA and IL2RA genes in atopic dermatitis.

scientific article

ApoE polymorphisms in narcolepsy

scientific article

Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease.

scientific article

Aprepro-orexingene polymorphism is associated with narcolepsy: Table 1

scientific article published on 01 January 2001

Are ANCA-associated vasculitides inherited?

scientific article published on 01 January 2004

Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis?

scientific article published on 10 August 2010

Artefacts in protein-DNA interactions produced by DNA probes isolated using a transilluminator

scientific article published on 01 May 1995

Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis

Association between a cannabinoid receptor gene (CNR1) polymorphism and cannabinoid-induced alterations of the auditory event-related P300 potential

scientific article published on 12 April 2011

Association between the promoter polymorphism T/C at position -159 of the CD14 gene and anti-inflammatory therapy in patients with inflammatory bowel disease

article

Association of UCP2 -866 G/A polymorphism with chronic inflammatory diseases

scientific article published on 23 April 2009

Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis

scientific article published on 15 July 2005

Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R.

scientific article published on February 2014

Association of interleukin-8 receptor α polymorphisms with chronic obstructive pulmonary disease and asthma

article

Association of multiple sclerosis with ILT6 deficiency

article

Association of polycystic ovary syndrome with an interstitial deletion of the long arm of chromosome 11 [del(11)(q21q23.1)]

Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery

scientific article published on 7 December 2012

Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips

scientific article published on 16 March 2005

Association of toll-interacting protein gene polymorphisms with atopic dermatitis

scientific article

Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort

scientific article

Association ofTNFAIP3andTNFRSF1Avariation with multiple sclerosis in a German case-control cohort

article

Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples

article

Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene

article

Association study with Wegener granulomatosis of the human phospholipase Cgamma2 gene

scientific article

Associations of Churg-Strauss syndrome with the HLA–DRB1 locus, and relationship to the genetics of antineutrophil cytoplasmic antibody–associated vasculitides: Comment on the article by Vaglio et al

scientific article published on 01 January 2008

Automictic reproduction in interspecific hybrids of poeciliid fish

scientific article

Autonomic nervous system function in Huntington's disease.

scientific article

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

scientific article published in December 1997

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

scientific article published on 21 July 2008

CD14 expression on monocytes and soluble CD14 plasma levels in correlation to the promotor polymorphism of the endotoxin receptor CD14 gene in patients with inactive Crohn's disease.

scientific article published in May 2005

CNR1 variation is associated with the age at onset in Huntington disease

scientific article published on 7 June 2013

Calculating paternity probabilities from DNA multilocus fingerprints in some cases of deficiency

scientific article published in October 1993

Cardiovagal modulation upon postural change is altered in Huntington's disease

scientific article published on 15 May 2008

Change in antigen specificity of cytotoxic T lymphocytes is associated with the rearrangement and expression of a T-cell receptor beta-chain gene.

scientific article published on June 1986

Changes of telomere lengths in human intracranial tumours

scientific article published in March 1993

Characterization of hypervariable locus-specific probes derived from a (CAC)5/(GTG)5 multilocus fingerprint in various Eurasian populations

scientific article published on 01 September 1992

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

scientific article

Chorea Huntington: a rare case with childhood onset

scientific article

Chromosome 9 of Ellobius lutescens is the X chromosome

scientific article published on 01 January 1988

Class I and class II major histocompatibility complex alleles are associated with faecal egg counts following natural, predominantly Ostertagia circumcincta infection

scientific article published in January 1996

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

scientific article published on 7 April 2010

Cloning and sequencing of expressed DRB genes of the red deer (Cervus elaphus) Mhc.

scientific article published in January 1995

Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

Coamplification of simple repetitive DNA fingerprint fragments and the EGFR gene in human gliomas

scientific article

Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity

scientific article published on 26 May 2015

Complex genetic predisposition in adult and juvenile rheumatoid arthritis

scientific article

Complex genetics of Wegener granulomatosis.

scientific article

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

scientific article published in February 1995

Congenic AB mice: A novel means for studying the (molecular) genetics of aggression

article

Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling

scientific article published in September 2005

Contrasting DNA sequence organisation patterns in sauropsidian genomes

scientific article published on November 1, 1979

Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome

scientific article published on 25 February 2010

DNA finger printing by oligonucleotide probes specific for simple repeats

scientific article published on 01 November 1986

DNA fingerprinting using non-radioactive oligonucleotide probes specific for simple repeats.

scientific article published on October 1988

DNA replication patterns of human C group chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique

scientific article published on 01 December 1975

DNA replication patterns of human chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique ⬇️

scientific article published on January 1, 1975

DNA replication patterns of the early S phase from amniotic fluid cells as revealed by a Giemsa staining technique

scientific article published on January 28, 1976

DNA sequence organisation in avian genomes.

scientific article

DRD1 and DRD2 genotypes modulate processing modes of goal activation processes during action cascading.

scientific article

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

scientific article

Detection of somatic changes in human renal cell carcinomas with oligonucleotide probes specific for simple repeat motifs.

scientific article published in February 1993

Determining consanguinity by oligonucleotide fingerprinting with (GTG)5/(CAC)5.

scientific article published in June 1991

Diagnostic applications of repetitive DNA sequences

scientific article published on 01 August 1992

Different mRNA expression profile during tumor progression in a well-differentiated liposarcoma--A microdissection approach

scientific article published in January 2003

Differential effects of ADORA2A gene variations in pre-attentive visual sensory memory subprocesses

scientific article published on 11 January 2012

Differentiation of species and strains among filamentous fungi by DNA fingerprinting.

scientific article

Digoxigenated oligonucleotide probes specific for simple repeats in DNA fingerprinting and hybridization in situ

scientific article published on 01 June 1989

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels

scientific article published on June 2001

Dispensable and indispensable genes in an ameiotic fish, the Amazon molly Poecilia formosa.

scientific article

Dissecting (CAC)5/(GTG)5 multilocus fingerprints from man into individual locus-specific, hypervariable components

scientific article published on August 1992

Dissociable electrophysiological subprocesses during response inhibition are differentially modulated by dopamine D1 and D2 receptors.

scientific article published on 9 March 2016

Distribution and stability of supernumerary microchromosomes in natural populations of the Amazon molly, Poecilia formosa

scientific article published on 01 January 2004

Diversity of T cell receptor alpha and beta chain genes expressed by human T cells specific for similar myelin basic protein peptide/major histocompatibility complexes

scientific article published on March 1, 1992

Diversity of T cell receptor alpha and beta chain genes expressed by human T cells specific for similar myelin basic protein/major histocompatibility complexes

scientific article published on May 1, 1992

Does the tuberous sclerosis complex include clivus chordoma? A case report

scientific article published on 01 February 2001

Early stages of sex chromosome differentiation in fish as analysed by simple repetitive DNA sequences

scientific article published in March 1992

Early-onset ALS with long-term survival associated with spastin gene mutation

scientific article published in July 2005

Ein neuer Test zur Risikoberechnung für chromosomale Trisomien im ersten Schwangerschaftsdrittel1

scientific article published on 01 September 2000

Eine klinische Studie zur Wertigkeit der Trisomie 21 - Risikopräzisierung im ersten Trimester der Schwangerschaft1

scientific article published on 01 May 2001

Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects.

scientific article

Elevated telomerase activity,c-MYC-, andhTERTmRNA expression: association with tumour progression in malignant lipomatous tumours

scientific article published on 01 April 2003

Enhanced expression of HLA-class II molecules on activated human T lymphocytes following treatment with tumor necrosis factor alpha ⬇️

scientific article published on August 1, 1991

Epigenetic regulation of lateralized fetal spinal gene expression underlies hemispheric asymmetries

scientific article

Erbliches Endometrium- und Ovarialkarzinom bei Patientinnen mit Lynch-Syndrom

Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance

scientific article

Evaluation of ROM1 as a candidate gene in generalised progressive retinal atrophy in dogs

article

Evaluation of outpatient management in HNPCC

scientific article published in July 2005

Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophy.

scientific article published on 11 November 2003

Evaluation of the γ-synuclein gene in German Parkinson's disease patients

article

Evidence for a monophyletic origin of triploid clones of the Amazon molly, Poecilia formosa.

scientific article published on April 2005

Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations

scientific article

Exclusion of thePDE6Agene for generalised progressive retinal atrophy in 11 breeds of dog

scientific article published on 01 April 2000

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families

scientific article

Exonic polymorphism vs intronic simple repeat hypervariability in MHC-DRB genes

article

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

scientific article published in December 1999

Extra-pair sires as identified by means of standardized across-gel comparisons of multilocus DNA fingerprints

scientific article published on 01 August 2003

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1

article

FOXP2 variation modulates functional hemispheric asymmetries for speech perception

scientific article published on 2 August 2013

Female influences on pair formation, reproduction and male stress responses in a monogamous cavy (Galea monasteriensis).

scientific article

Fine-structural analysis and connexin expression in the retina of a transgenic model of Huntington's disease

scientific article published in November 2004

Fingerprinting plant genomes with oligonucleotide probes specific for simple repetitive DNA sequences

article

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

scientific article published on 9 January 2018

Functional characterization of the human Huntington's disease gene promoter

scientific article (publication date: 15 August 2001)

Functionally relevant variations of the interleukin-10 gene associated with antineutrophil cytoplasmic antibody-negative Churg-Strauss syndrome, but not with Wegener's granulomatosis

scientific article

Gene symbol: RYR1. Disease: malignant hyperthermia

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene

scientific article published on 4 August 2010

Genetic Variations in Genes Encoding RANK, RANKL, and OPG in Rheumatoid Arthritis: A Case-Control Study

article

Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique

scientific article published on 01 February 1993

Genetic modifiers in Huntington's disease: fiction or fact?

scientific article published in November 2013

Genetic variability of RXRB, PPARA, and PPARG in Wegener's granulomatosis

scientific article published on 11 February 2009

Genetics of toll like receptor 9 in ANCA associated vasculitides

scientific article published on 16 April 2013

Genetischer Hintergrund der Vaskulitiden

scientific article published on 01 April 2011

Genome analysis of Amphioxus and speculation as to the origin of contrasting vertebrate genome organization patterns ⬇️

scientific article published on January 1, 1979

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk

scientific article published on 12 January 2013

Genome-wide significant association with seven novel multiple sclerosis risk loci

scientific article

Genomic NGFB variation and multiple sclerosis in a case control study.

scientific article

Genomic instability in colorectal carcinomas: comparison of different evaluation methods and their biological significance

scientific article published on 01 May 1996

Genomic simple repetitive DNAs are targets for differential binding of nuclear proteins.

scientific article published on June 1996

Genomic stability in malignant melanoma of Xiphophorus.

scientific article

Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19.

scientific article published in March 1996

Growth rate of late passage sarcoma cells is independent of epigenetic events but dependent on the amount of chromosomal aberrations

scientific article published on 25 March 2013

Gynäkologische Betreuung von Patientinnen mit HNPCC-Syndrom und deren Familien

scientific article published on 01 August 2006

HNPCC: six new pathogenic mutations

scientific article

Haemoglobin freiburg: direct detection by synthetic oligonucleotide probes

scientific article published on 01 June 1988

Helicobacter pylori infection: CagA-specific antibodies are associated with clinical outcome, but not with HLA-class II polymorphisms of the host

scientific article published on 01 February 2003

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF.

scientific article published on 21 June 2009

Heterogeneities in the distribution of (GACA)n simple repeats in the karyotypes of primates and mouse

scientific article published in July 1990

Heterogeneity in the Sxr (sex-reversal) locus of the mouse as revealed by synthetic probes ⬇️

scientific article published on 01 June 1988

Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs.

scientific article

Human DNA sequences isolated with an immunoglobulin switch region probe: sequence, chromosomal localization, and restriction fragment length polymorphisms.

scientific article

Human T cell autoimmunity against myelin basic protein: CD4+ cells recognizing epitopes of the T cell receptor beta chain from a myelin basic protein-specific T cell clone.

scientific article published on February 1993

Hypervariability of intronic simple (gt)n(ga)m repeats in HLA-DRB genes

scientific article published in January 1990

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

scientific article published on 29 July 2008

Identification and efficient genotyping of an (A)n/(T)m polymorphism within the 5' untranslated region of the human IL6 gene

article

Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis

scientific article published in January 2005

Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo)

scientific article published on 01 August 2007

Identification of the 45-base-long primordial building block of the entire class I major histocompatibility complex antigen gene.

scientific article

IgD/? plasmocytoma with immunoglobulin ? light-chain genes in the germ-line configuration

article

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

scientific article published on 01 June 1993

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.

scientific article published in September 1993

In the European population HLA-class II genes are not associated with Helicobacter pylori infection

article

Increased detectability of somatic changes in the DNA from human tumours after probing with ?synthetic? and ?genome-derived? hypervariable multilocus probes

scientific article published on 01 December 1989

Increased frequency of migraine in narcoleptic patients: a confirmatory study

scientific article published in February 2003

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.

scientific article

Individual-Specific DNA Fingerprinting in Man Using the Oligonucleotide Probe (GTG)5/(CAC)5 ⬇️

scientific article published on May 1, 1991

Inhibitors in the NFκB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinations

article

Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.

scientific article

Intergenomic consensus in multifactorial inheritance loci: the case of multiple sclerosis

article

Interleukin-4 and interleukin-4 receptor gene polymorphisms in inflammatory bowel diseases

article

Is sex-specifically arranged repetitive DNA involved in primary sex determination of vertebrates?

scientific article published on 01 January 1982

Is the retina affected in Huntington disease?

scientific article published on 13 October 2005

Isolation of a cancer-associated microchromosome in the sperm-dependent parthenogen Poecilia formosa

scientific article published on 21 September 2011

Isolation of microsatellite loci for paternity testing in Phillyrea angustifolia L. (Oleaceae).

scientific article published in January 2000

Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults.

scientific article published on 16 November 2015

Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy

scientific article published in February 1999

Leukemic cells arise from cloned cytotoxic lymphocytes during cell culture

article

Lifespan, lifetime reproductive performance and paternity loss of within-pair and extra-pair offspring in the coal tit Periparus ater

scientific article published in January 2009

Living related kidney transplantation between identical twins

scientific article published in September 2002

Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome.

scientific article

Long- and short-haired Weimaraner dogs represent two populations of one breed

scientific article published on 01 May 2005

Long-term fitness consequences of female extra-pair matings in a socially monogamous passerine

scientific article published on 01 February 2003

Loss of Antigen Recognition and Impaired Cytolytic Function in Most Hybrids between Cytotoxic T Cells and BW5147

scientific article published on 01 February 1987

Low probe concentration can cause problems in multilocus DNA fingerprinting (cautionary notes III)

scientific article published on 01 February 2000

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

scientific article

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

scientific article published on June 2013

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

scientific article published on October 1995

Male polymorphism in Limia perugiae (Pisces: Poeciliidae)

scientific article published on 01 January 1994

Mammalian T-lymphocyte antigen receptor genes: genetic and nongenetic potential to generate variability

article

Methyltetrahydrofolate reductase polymorphism influences onset of Huntington's disease.

scientific article published in January 2004

Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease.

scientific article published on 29 January 2010

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

scientific article published on 01 August 2000

Modifying effects of the R389G beta1-adrenoceptor polymorphism on resting heart rate and blood pressure in patients with obstructive sleep apnoea

scientific article published in January 2006

Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease

scientific article published on 01 July 2003

Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed

scientific article published on 20 May 2015

Molecular biology techniques in the diagnosis of monogenic diseases

scientific article published on 01 February 1994

Molecular biology techniques in the diagnosis of monogenic diseases.

scientific article

Monogamy in a new species of wild guinea pigs ( Galea sp.)

scientific article published on 21 August 2002

Multilocus DNA Fingerprinting Using Oligonucleotide Probes in 5 Macaque Species

article

Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity.

scientific article

Multiple sclerosis in families: risk factors beyond known genetic polymorphisms

scientific article published on 11 February 2016

Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability.

scientific article published on 27 January 2015

Muscle pain in myophosphorylase deficiency (McArdle's disease): the role of gender, genotype, and pain-related coping

scientific article published on 21 June 2006

Mutation analysis and association studies of nuclear factor-κB1 in sporadic Parkinson's disease patients

scientific article published on 01 September 2002

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

scientific article (publication date: August 2002)

Mutations in the calcium-sensing receptor: A new genetic risk factor for chronic pancreatitis?

scientific article published on 01 March 2006

Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1

scientific article published on 21 September 2018

N-methyl-D-aspartate receptor 2B subunit (GRIN2B) gene variation is associated with alerting, but not with orienting and conflicting in the Attention Network Test

scientific article published on 29 March 2012

NPY2-receptor variation modulates iconic memory processes

scientific article published on 22 March 2014

NR2A and NR2B receptor gene variations modify age at onset in Huntington disease

scientific article published on 17 November 2004

NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner

scientific article

Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia

scientific article published on 01 May 2003

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes

scientific article published on 14 February 2004

No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.

scientific article

No association between synapsin III gene promoter polymorphisms and multiple sclerosis in German patients

article

No evidence of an association between polymorphisms in the IRAK-M gene and atopic dermatitis in a German cohort

article

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

scientific article published on 30 July 2010

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

scientific article

Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis

scientific article

Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients

scientific article published on 18 June 2009

Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region

scientific article published in January 2005

Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease

scientific article

Novel polymorphic microsatellite loci isolated from the yellow waterlily, Nuphar lutea

scientific article published in April 2000

Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

scientific article published on 3 December 2013

Numerical and structural chromosomal anomalies in undifferentiated pleomorphic sarcoma

scientific article published on December 2014

On ancestors of dog breeds with focus on Weimaraner hunting dogs

scientific article published on 28 October 2010

On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality.

scientific article published on December 1992

On paternity determination from multilocus DNA profiles

scientific article published in February 1991

On the Genetics of Innate Immunity in Crohns Disease

article

On the Wegener granulomatosis associated region on chromosome 6p21.3.

scientific article published on 9 March 2006

On the relevance of the NPY2-receptor variation for modes of action cascading processes.

scientific article published on 23 August 2014

Optimized oligonucleotide probes for DNA fingerprinting

scientific article published on 01 August 1988

Organization of DYZ2 repetitive DNA on the human Y chromosome

scientific article published in February 1990

PATERNAL GENETIC EFFECTS ON OFFSPRING FITNESS ARE CONTEXT DEPENDENT: WITHIN THE EXTRAPAIR MATING SYSTEM OF A SOCIALLY: MONOGAMOUS PASSERINE

scientific article published on 01 March 2005

PCR amplification products are of limited use for the study of DNA/protein interaction.

scientific article

PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease.

scientific article

PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.

scientific article published on 13 February 2018

PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum

scientific article published on 09 August 2018

PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients

scientific article

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts

article

Paternity analysis of alternative male reproductive routes among the langurs (Semnopithecus entellus) of Ramnagar.

scientific article

Patterns of Cyclic AMP Phosphodiesterases in the Rat Pineal Gland:Sex Differences in Diurnal Rhythmicity ⬇️

scientific article published on January 1, 1982

Patterns of cyclic AMP phosphodiesterases during rat testis development

scientific article published in January 1980

Polyandry in coal tits Parus ater: fitness consequences of putting eggs into multiple genetic baskets

scientific article published in May 2007

Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis

article

Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.

scientific article published on 14 June 2005

Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

scientific article

Polymorphisms in the interleukin-8 gene in patients with chronic obstructive pulmonary disease

scientific article

Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in German patients

scientific article published on 11 February 2003

Positive family history of idiopathic sudden sensorineural hearing loss

scientific article published in July 2010

Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16.

scientific article

Preferential expression of a defined T-cell receptor β-chain gene in hapten-specific cytotoxic T-cell clones

scientific article published in Nature

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene

scientific article published on 24 September 2009

Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups

article

Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

scientific article published on 30 March 2017

Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.

scientific article published on 31 December 2010

RFLP-discordance within the human phenylalanine hydroxylase locus

scientific article published in September 1989

Rapid Prenatal Diagnosis of Aneuploidies in Uncultured Amniocytes by Fluorescence in situ Hybridization

scientific article published on 01 July 1999

Rapid and sensitive typing of forensic stains by PCR amplification of polymorphic simple repeat sequences in case work

scientific article published on 01 March 1992

Rapid genetic diversification within dog breeds as evidenced by a case study on Schnauzers.

scientific article

Rapid method based on reversed-phase high-performance liquid chromatography for purification of human myelin basic protein and its thrombic and endoproteinase Lys-C peptides

scientific article published on 01 June 1990

Refining the results of a whole-genome screen based on 4666 microsatellite markers for defining predisposition factors for multiple sclerosis.

scientific article

Replication Analysis of a Putative Susceptibility Locus (EGI) for Idiopathic Generalized Epilepsy on Chromosome 8q24

scientific article published on 01 July 1998

Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood

scientific article

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

scientific article published on 8 February 2010

Role of the NFKB1 -94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN genes

scientific article

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

scientific article

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

scientific article published on 7 November 2008

Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.

scientific article

Sequence organization of animal nuclear DNA ⬇️

scientific article published on January 1, 1980

Severe Guillain–Barré syndrome associated with chromosome 17p11.2-12 duplication

scientific article published on 01 February 2008

Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels

article

Simple GATCA repeats characterize the X chromosomal heterochromatin of Microtus agrestis, European field vole (Rodentia, Cricetidae).

scientific article published in January 1988

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts.

scientific article published in June 1992

Somatic DNA alterations in breast carcinomas of different lymph-node status by DNA fingerprint analyses.

scientific article published in June 1998

Spastin related hereditary spastic paraplegia with dysplastic corpus callosum

scientific article published in September 2005

Specific amplification of the ZFY gene to screen sex in man

article

Spinocerebellar ataxia type 1: clinical and neurophysiological characteristics in German kindreds

article

Spinocerebellar ataxia type 2 with glial cell cytoplasmic inclusions.

scientific article published on March 2004

Spotted Weimaraner dog due to de novo KIT mutation

scientific article

Stain analysis using oligonucleotide probes specific for simple repetitive DNA sequences.

scientific article published in August 1990

Suppression of experimentally induced autoimmune encephalomyelitis by cytolytic T-T cell interactions.

scientific article

Testis-organizing H-Y antigen as a discrete protein; its MHC restricted recognition and the genomic environment in which H-Y gene operates.

scientific article

The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease

article

The Association of CD18 Alleles with Anti-myeloperoxidase Subtypes of ANCA-Associated Systemic Vasculitides

scientific article published on 01 January 2000

The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.

scientific article

The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease

article

The IL-10 gene is not involved in the predisposition to inflammatory bowel disease

scientific article published on 01 November 2000

The LRRK2 gene in Parkinson's disease: mutation screening in patients from Germany

scientific article published on July 2006

The PTPN22 620W allele is a risk factor for Wegener's granulomatosis

scientific article published in December 2005

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

scientific article

The Wegener's granulomatosis quantitative trait locus on chromosome 6p21.3 as characterised by tagSNP genotyping

scientific article published on 29 October 2007

The antigen receptor of an autoreactive T-cell clone from human rheumatic synovia

scientific article

The canine Recoverin (RCV1) gene: a candidate gene for generalized progressive retinal atrophy.

scientific article published on 15 November 2002

The expression of the evolutionarily conserved GATA/GACA repeats in mouse tissues

scientific article published in January 1986

The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

scientific article published on January 1998

The genetics of atopic dermatitis: recent findings and future options.

scientific article

The genetics of chronic obstructive pulmonary disease

scientific article published on 9 January 2009

The gynogenetic reproduction of diploid and triploid hybrid spined loaches (Cobitis: Teleostei), and their ability to establish successful clonal lineages--on the evolution of polyploidy in asexual vertebrates

scientific article published on 11 January 2007

The polymorphism at position –174 of the IL-6 gene is not associated with inflammatory bowel disease

article

TheATG16L1Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population

article

TheSEM6A6Locus Is Not Associated With Granulomatosis With Polyangiitis or Other Forms of Antineutrophil Cytoplasmic Antibody-Associated Vasculitides in Europeans: Comment on the Article by Xie et al

scientific article published on 01 May 2014

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

scientific article

Tracing the origin of 'blue Weimaraner' dogs by molecular genetics

scientific article published on 22 September 2010

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

scientific article published in January 2004

Transmission distortion of the mutant alleles in spinocerebellar ataxia

scientific article published in February 1997

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients ⬇️

scientific article published on June 1, 1995

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

scientific article published in March 2004

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

scientific article

Truly hypervariable DNA fingerprints due to exceptionally high mutation rates

scientific article published on 01 February 2002

Two Common Loss-of-Function Mutations within the Filaggrin Gene Predispose for Early Onset of Atopic Dermatitis

article

Unrelated queens coexist in colonies of the termite Macrotermes michaelseni.

scientific article

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero

scientific article published in April 2010

Variation in genes encoding eosinophil granule proteins in atopic dermatitis patients from Germany

scientific article

Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.

scientific article

Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease

article

Variation in the IL7RA and IL2RA genes in German multiple sclerosis patients

scientific article published on 23 February 2009

Variation in the NMDA receptor 2B subunit gene GRIN2B is associated with differential language lateralization

scientific article published on 30 July 2011

Variations in the GRIN2B gene are associated with risky decision-making

scientific article published on 5 July 2011

Vb6 T-cell receptor elements in artiodactyls: conservation and germline polymorphisms

scientific article published on 01 September 1993

When control fails: Influence of the prefrontal but not striatal dopaminergic system on behavioural flexibility in a change detection task

scientific article published on 02 November 2011

Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals.

scientific article published on September 1999

Zur Immungenetik entzündlich-rheumatischer Erkrankungen

scientific article published on 01 February 2001

cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene

scientific article published in March 1996

mtDNA nt13708A variant increases the risk of multiple sclerosis

scientific article

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