Works by Wienker, Thomas
Results: 76
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 621, doi. 10.1002/humu.23205
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- Article
Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations.
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- Human Mutation, 2014, v. 35, n. 12, p. 1427, doi. 10.1002/humu.22695
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- Article
VarWatch—A stand-alone software tool for variant matching.
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- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0215618
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- Article
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.
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- Cell Cycle, 2014, v. 13, n. 10, p. 1, doi. 10.4161/cc.28706
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- Article
Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6.
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- Human Genetics, 2010, v. 127, n. 4, p. 383, doi. 10.1007/s00439-009-0779-6
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- Article
Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males.
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- Human Genetics, 2007, v. 122, n. 5, p. 505, doi. 10.1007/s00439-007-0430-3
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- Article
The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
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- Human Genetics, 2006, v. 119, n. 3, p. 331, doi. 10.1007/s00439-006-0140-2
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- Article
No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.
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- Human Genetics, 2003, v. 114, n. 1, p. 115, doi. 10.1007/s00439-003-1022-5
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- Article
Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk.
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- Clinical Genetics, 1976, v. 9, n. 6, p. 545, doi. 10.1111/j.1399-0004.1976.tb01611.x
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- Article
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.
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- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 10, p. 670
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- Article
New Evidence for the Role of Calpain 10 in Autosomal Recessive Intellectual Disability: Identification of Two Novel Nonsense Variants by Exome Sequencing in Iranian Families.
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- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 3, p. 179
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- Article
Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene.
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- American Journal of Respiratory Cell & Molecular Biology, 2000, v. 23, n. 5, p. 696, doi. 10.1165/ajrcmb.23.5.4257
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- Publication type:
- Article
Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 219, doi. 10.1093/hmg/ddr456
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- Article
A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.
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- Human Molecular Genetics, 2009, v. 18, n. 10, p. 1755, doi. 10.1093/hmg/ddp088
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- Article
Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
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- 1998
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- journal article
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
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- Genome Medicine, 2013, v. 5, n. 2, p. 1, doi. 10.1186/gm415
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- Article
Lack of association of a functional catechol-o-methyltransferase gene polymorphism with risk of tobacco smoking: results from a multicenter case-control study.
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- 2013
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- Journal Article
Lack of Association of a Functional Catechol-O-Methyltransferase Gene Polymorphism With Risk of Tobacco Smoking: Results From a Multicenter Case–Control Study.
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- Nicotine & Tobacco Research, 2013, v. 15, n. 7, p. 1322, doi. 10.1093/ntr/nts334
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- Publication type:
- Article
β-2 Adrenoceptor genetic variation is associated with genetic predisposition to essential hypertension: The Bergen Blood Pressure Study.
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- Kidney International, 1998, v. 53, n. 6, p. 1455, doi. 10.1046/j.1523-1755.1998.00926.x
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- Publication type:
- Article
A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly.
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- Kidney International, 1998, v. 53, n. 1, p. 167, doi. 10.1046/j.1523-1755.1998.00732.x
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- Publication type:
- Article
Linkage Analysis of Asthma and Atopy Including Models with Genomic Imprinting.
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- Genetic Epidemiology, 2001, v. 21, p. S204, doi. 10.1002/gepi.2001.21.s1.s204
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- Article
Linkage analysis in alcohol dependence.
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- Genetic Epidemiology, 1999, v. 17, p. S403, doi. 10.1002/gepi.1370170768
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- Publication type:
- Article
Linkage analysis with adequate modeling of a parent-of-origin effect.
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- Genetic Epidemiology, 1999, v. 17, p. S331, doi. 10.1002/gepi.1370170756
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- Publication type:
- Article
Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II.
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- European Archives of Psychiatry & Clinical Neuroscience, 2001, v. 251, p. I25, doi. 10.1007/PL00014197
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- Publication type:
- Article
hKCNN3 which maps to chromosome 1q21 is not the causative gene in periodic catatonia, a familial subtype of schizophrenia.
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- European Archives of Psychiatry & Clinical Neuroscience, 2000, v. 250, n. 4, p. 163
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- Publication type:
- Article
Functional Polymorphism in the Neuropeptide Y Gene Promoter (rs16147) Is Associated with Serum Leptin Levels and Waist-Hip Ratio in Women.
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- Annals of Nutrition & Metabolism, 2013, v. 62, n. 4, p. 271, doi. 10.1159/000346799
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- Article
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0129631
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- Publication type:
- Article
Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors.
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- Journal of Investigative Dermatology, 2010, v. 130, n. 4, p. 979, doi. 10.1038/jid.2009.385
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- Publication type:
- Article
Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease.
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- Journal of Investigative Dermatology, 2007, v. 127, n. 11, p. 2539, doi. 10.1038/sj.jid.5700915
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- Article
Male Restricted Genetic Association of Variant R620W in PTPN22 with Psoriatic Arthritis.
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- 2006
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- Publication type:
- Letter
Lack of Evidence for Genetic Association to RUNX1 Binding Site at PSORS2 in Different German Psoriasis Cohorts.
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- Journal of Investigative Dermatology, 2005, v. 124, n. 1, p. 107, doi. 10.1111/j.0022-202X.2004.23571.x
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- Publication type:
- Article
Analysis of quantitative trait loci in mice suggests a role of Enoph1 in stress reactivity.
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- Journal of Neurochemistry, 2014, v. 128, n. 6, p. 807, doi. 10.1111/jnc.12517
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- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 331, doi. 10.1038/ejhg.2014.13
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- Article
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 416, doi. 10.1038/ejhg.2014.152
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- Article
The human pseudoautosomal regions: a review for genetic epidemiologists.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 771, doi. 10.1038/ejhg.2008.63
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- Article
Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 774, doi. 10.1038/sj.ejhg.5201825
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- Article
Ein Geburtstagsgruß für Hans-Hilger Ropers.
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- Medizinische Genetik, 2023, v. 35, n. 4, p. 303, doi. 10.1515/medgen-2023-2067
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- Article
Promoter Polymorphism at –238 of the Tumor Necrosis Factor Alpha Gene is Not Associated with Early Onset Psoriasis when Tested by the Transmission Disequilibrium Test.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 4, p. 514, doi. 10.1046/j.1523-1747.1999.00541.x
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- Publication type:
- Article
Single-Nucleotide Polymorphisms of MMP-2 Gene in Stroke Subtypes.
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- Cerebrovascular Diseases, 2008, v. 26, n. 2, p. 113, doi. 10.1159/000139657
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- Article
Quantitative trait loci contributing to physiological and behavioural ethanol responses after acute and chronic treatment.
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- International Journal of Neuropsychopharmacology, 2010, v. 13, n. 2, p. 155, doi. 10.1017/S1461145709990447
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- Article
Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
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- International Journal of Neuropsychopharmacology, 2005, v. 8, n. 4, p. 495, doi. 10.1017/s1461145705005821
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- Publication type:
- Article
Evaluating information content of SNPs for sample-tagging in re-sequencing projects.
- Published in:
- Scientific Reports, 2015, p. 10247, doi. 10.1038/srep10247
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- Publication type:
- Article
Linkage of the Gene for the Triple A Syndrome to Chromosome 12q13 Near the Type II Keratin Gene Cluster.
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- Human Molecular Genetics, 1996, v. 5, n. 12, p. 2061, doi. 10.1093/hmg/5.12.2061
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- Article
Loss of constitutional heterozygosity on chromosome 11p in human ovarian cancer. Positive correlation with grade of differentiation.
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- 1993
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- Publication type:
- journal article
A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
- Published in:
- Nature Genetics, 2000, v. 26, n. 4, p. 470, doi. 10.1038/82625
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- Publication type:
- Article
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
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- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006746
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- Article
Coagulation factor XIII: Genetic linkage studies with F13B.
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- Genetic Epidemiology, 1987, v. 4, n. 1, p. 43, doi. 10.1002/gepi.1370040106
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- Publication type:
- Article
Feasible and Successful: Genome-Wide Interaction Analysis Involving All 1.9 × 10 Pair-Wise Interaction Tests.
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- Human Heredity, 2010, v. 69, n. 4, p. 268, doi. 10.1159/000295896
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- Publication type:
- Article
A New Sex-Specific Genetic Map of the Human Pseudoautosomal Regions (PAR1 and PAR2).
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- Human Heredity, 2009, v. 68, n. 3, p. 192, doi. 10.1159/000224639
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- Article
How to Model a Complex Trait.
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- Human Heredity, 2004, v. 56, n. 4, p. 200, doi. 10.1159/000076394
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- Publication type:
- Article