Research Topics
Genomes and Genes | P ProppingSummaryAffiliation: University of Bonn Country: Germany Publications
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Publications
Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteersErik G Jonsson
Department of Clinical Neuroscience, Psychiatry Section, HUBIN project, Karolinska Institutet, Stockholm, Sweden
BMC Psychiatry 4:4. 2004..CSF monoamine metabolite concentrations are partly determined by genetic influences...- Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control studyDaniele Campa
Genomic Epidemiology Group, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
BMC Gastroenterol 10:112. 2010..Accumulating evidence also indicates a role of ghrelin in cancer development... 
ADULT syndrome allelic to limb mammary syndrome (LMS)?P Propping
Institute of Human Genetics, University of Bonn, Bonn, Germany
Am J Med Genet 90:179-82. 2000..82 at straight theta = 0.00 with marker D3S1288. Our results place the ADULT locus to the same chromosomal region where LMS was mapped, suggesting that these two conditions are allelic...- The biography of psychiatric genetics: from early achievements to historical burden, from an anxious society to critical geneticistsPeter Propping
Institute of Human Genetics, University of Bonn, Germany
Am J Med Genet B Neuropsychiatr Genet 136:2-7. 2005..Although mental disorders are harder to tackle than any other complex disease the concepts developed and the methods available today are powerful enough to predict a bright future of the field... - [The genetic revolution-impact on therapy and prevention]P Propping
Institut fur Humangenetik, Rheinische Friedrich Wilhelms Universitat Bonn
Internist (Berl) 45:S6-14. 2004..This applies e. g. to various familial cancer predispositions. In the future, medical doctors should be able to apply genetic risk figures and to convey them to their patients... - Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German familiesM M Nöthen
Institute of Human Genetics, University of Bonn, Germany
Mol Psychiatry 4:76-84. 1999..2 and 18q22-23 support prior evidence for susceptibility loci in these regions. The parent-of-origin effect on 18p11.2 is confirmed in our sample. The delineation of characteristics of 'either' families requires further study... - Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndromeN Rahner
Institute of Human Genetics, University of Bonn, Germany
J Pathol 214:10-6. 2008..Hypermethylation of the MLH1 promoter may be present in most cases of sporadic colorectal cancers, but this does not exclude a diagnosis of Lynch syndrome... - Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP familiesW Friedl
Institute of Human Genetics, University of Bonn, Germany
Gut 48:515-21. 2001..While mutation analysis is important for predictive diagnosis in persons at risk, its relevance for clinical management of individual patients is open to question... - A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8qS Cichon
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
Hum Mol Genet 10:2933-44. 2001..Putative paternally imprinted loci were identified in chromosomal regions 2p24-p21 and 2q31-q32. Maternally imprinted susceptibility genes may be located on 14q32 and 16q21-q23... - The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approachA M Hillmer
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
Br J Dermatol 146:601-8. 2002..The main feature of these disorders is persistent complete absence of hair at or shortly after birth. This suggests that HR is essential and specific for the development of hair... - Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancerC Lamberti
Department of Internal Medicine, University of Bonn, Bonn, Germany
Gut 44:839-43. 1999..As molecular genetic testing is predominantly restricted to these families, gene carriers not meeting the clinical criteria may be missed... - Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorderB Niesler
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
Pharmacogenetics 11:471-5. 2001..These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder... - A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25--q26S Cichon
Institute of Human Genetics, University of Bonn, Wilhelmstr 31, D 53111 Bonn, Germany
Mol Psychiatry 6:342-9. 2001..12 (P = 0.0013). Positive linkage findings that have been reported by two independent studies further support the hypothesis of a susceptibility gene for bipolar affective disorder on 10q25-q26... - Localization of a gene for syndactyly type 1 to chromosome 2q34-q36K Bosse
Institute of Human Genetics, University of Bonn, Germany
Am J Hum Genet 67:492-7. 2000..Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development... - Association study of the tryptophan hydroxylase gene and bipolar affective disorder using family-based internal controlsM Rietschel
Department of Psychiatry, University of Bonn, Germany
Am J Med Genet 96:310-1. 2000..Neither allele 218A nor allele 218C were preferentially transmitted from heterozygous parents to bipolar offspring. Our results, therefore, do not support the hypothesis that the TPH gene is involved in the etiology of bipolar disorder... - A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German familyS Cichon
Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111 Bonn, Germany
Br J Dermatol 143:811-4. 2000..Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft... - Human delta-opioid receptor gene and susceptibility to heroin and alcohol dependenceP Franke
Department of Psychiatry, University of Bonn, Bonn, Germany
Am J Med Genet 88:462-4. 1999..Our results, therefore, do not support an association between genetic variation of the delta-opioid receptor and addictive behavior in man... - Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorderR Abou Jamra
Institute of Human Genetics, University of Bonn, Bonn, Germany
Mol Psychiatry 13:277-84. 2008.... - Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patientsB Niesler
Institute of Human Genetics, University of Heidelberg, Germany
Pharmacogenetics 11:21-7. 2001..Further studies are needed to support the hypothesis that HTR3A may contribute to the schizophrenia in these patients... - High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndromeS Aretz
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
J Med Genet 44:702-9. 2007..In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown... - Dopamine D3 receptor variant and tardive dyskinesiaM Rietschel
Department of Psychiatry, University of Bonn, Germany
Eur Arch Psychiatry Clin Neurosci 250:31-5. 2000..However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia... - Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteriaR Kruse
Institute of Human Genetics, Friedrich Wilhelms University, Bonn, Germany
Am J Hum Genet 63:63-70. 1998.... - Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopeciaS Cichon
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
Hum Mol Genet 7:1671-9. 1998..We speculate that this tissue-specific difference in the proportion of hairless transcripts lacking exon 17 sequences could contribute to the tissue-specific disease phenotype observed in individuals with isolated congenital alopecia... - Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to chromosome 15M M Nöthen
Institute of Human Genetics, University of Bonn, Germany
Eur Child Adolesc Psychiatry 8:56-9. 1999..26 with marker D15S143 at theta = 0. A multipoint LOD score of 1.78 (p = 0.0042) was achieved with a maximum at D15S132. Thus, our results provide independent support for a dyslexia gene on the long arm of chromosome 15... - Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in GermanyC Lamberti
Department of Internal Medicine I, University of Bonn, Bonn, Germany
Digestion 74:58-67. 2006..This project aims at estimating the proportion of HNPCC among unselected patients with CRC... - Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1M Faiyaz ul Haque
Institut fur Humangenetik, Universitat, Bonn, Germany
Hum Genet 91:17-9. 1993..00 with the loci DXS294 (Zmax = 5.13) and HPRT (Zmax = 4.43), respectively, suggesting that the gene for the X-chromosomal split-hand/split-foot anomaly is localized at Xq26-q26.1... - MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?E Mangold
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
Br J Dermatol 156:158-62. 2007 - Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genesM Wehner
Institute of Human Genetics, University of Bonn, Germany
Hum Mutat 10:241-4. 1997 - Systematic investigation of genetic variability in 111 human genes-implications for studying variable drug responseY Freudenberg-Hua
Institute of Human Genetics, University of Bonn, Bonn, Germany
Pharmacogenomics J 5:183-92. 2005..Estimation of htSNPs reduces the genotyping effort required in capturing common haplotypes, for certain genes, however, this accounts for only a small fraction of haplotype diversity... - Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorderJ Schumacher
Institute of Human Genetics, University of Bonn, Germany
Mol Psychiatry 9:203-7. 2004..The association of variation at G72 with schizophrenia as well as BPAD provides molecular support for the hypothesis that these two major psychiatric disorders share some of their etiologic background... - Caught in the trio trap? Potential selection bias inherent to association studies using parent-offspring triosT G Schulze
Department of Psychiatry, University of Bonn, Bonn, Germany
Am J Med Genet 105:351-3. 2001..Thus, giving up case control designs for the sake of family-based association studies could be at the risk of selecting against several genetically determined factors... - A similarity-based method for genome-wide prediction of disease-relevant human genesJ Freudenberg
Institute of Human Genetics, Bonn University Hospital, Germany
Bioinformatics 18:S110-5. 2002..The prediction results can either be used to identify target genes, when searching for a mutation in monogenic diseases or for selection of loci in genotyping experiments in genetically complex diseases... - Association study of the low-activity allele of catechol-O-methyltransferase and alcoholism using a family-based approachT Wang
Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111 Bonn, Germany
Mol Psychiatry 6:109-11. 2001..83, P = 0.028). Our results provide further evidence for an involvement of the COMT low-activity allele in the development of alcoholism and demonstrate the need for further studies in large samples of alcoholic patients... - A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3R C Betz
Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
Am J Hum Genet 66:1979-83. 2000..Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp... - An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsyO K Steinlein
Institute for Human Genetics, University of Bonn, Germany
Hum Mol Genet 6:943-7. 1997..Comparison of the two mutations identified so far in families with ADNFLE illustrates that different mutations can result in similar phenotypes... - Detection of APC and k-ras mutations in the serum of patients with colorectal cancerH Lauschke
Department of Surgery, University of Bonn, Germany
Cancer Detect Prev 25:55-61. 2001..Given their higher detection rate, APC mutations could be a more informative serum marker than k-ras in CRC patients... - Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophreniaJ Erdmann
Institute of Human Genetics, University of Bonn, Germany
Hum Genet 97:614-9. 1996..However, the reported association of the non-coding polymorphism 102T/C with the disease has also been detected in our sample (P=0.041, odds ratio=1.28, 95% confidence interval 1.012-1.623)... - A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyO K Steinlein
Institute of Human Genetics, University of Bonn, Germany
Nat Genet 11:201-3. 1995..The mutation is present in all 21 available affected family members and in four obligate carriers, but not in 333 healthy control subjects... - Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patientsW Friedl
Institute of Human Genetics, University of Bonn, Bonn, Germany
Genes Chromosomes Cancer 25:403-6. 1999..Genes Chromosomes Cancer 25:403-406, 1999... 
Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screeningR Hüneburg
Department of Internal Medicine I, University of Bonn, Germany
Endoscopy 41:316-22. 2009..It was the aim of the present study to assess the detection rate of polypoid lesions by comparing chromocolonoscopy with standard white light colonoscopy and narrow-band imaging (NBI) colonoscopy...- Assignment of the human serotonin 4 receptor gene (HTR4) to the long arm of chromosome 5 (5q31-q33)S Cichon
Institute of Human Genetics, University of Bonn, Germany
Mol Membr Biol 15:75-8. 1998..Significant linkage was obtained to genetic marker D5S2654. This localizes the HTR4 gene to human chromosome 5q31-q33... - Linkage analyses of chromosomal region 18p11-q12 in dyslexiaJ Schumacher
, , Germany
J Neural Transm 113:417-23. 2006..Possible explanations for our non-replication include differences in study design, limited power of our study and overestimation of the effect of the chromosome 18 locus in the original study... - A gene for universal congenital alopecia maps to chromosome 8p21-22M M Nöthen
Institute of Human Genetics, University of Bonn, Bonn, Germany
Am J Hum Genet 62:386-90. 1998..This will aid future identification of the responsible gene, which will be extremely useful for the understanding of the biochemistry of hair development... - Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26R Caspari
Medizinische Klinik I, Universitat Bonn, Germany
Am J Med Genet 93:290-3. 2000..Two point linkage analysis with 23 informative markers gave a lod score of 2.53 at theta = 0 for markers DXS425, DXS1254, DXS1114, and HPRT... - Nonreplication of association between mu-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependenceP Franke
Department of Psychiatry University of Bonn, Germany
Am J Med Genet 105:114-9. 2001..In addition, there was no significant association between the endophenotype of the individuals under study (e.g., comorbidity, severity of illness) and a particular genotype of OPRM1... - Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disordersG Stober
Institute of Human Genetics, University of Bonn, Germany
Am J Med Genet 67:523-32. 1996..The detection of a highly polymorphic silent 1287G/A polymorphism was utilized to demonstrate biallelic expression of the NET in adult human brain... - [Genetics of bipolar affective disorders. Current status of research for identification of susceptibility genes]J Schumacher
Institut fur Humangenetik, Universitatsklinikum Bonn
Nervenarzt 73:581-92; quiz 593-4. 2002..New methods are being developed for linkage disequilibrium mapping and candidate gene approaches. One can be optimistic that over the next few years bipolar susceptibility genes will be identified... - Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorderL Priebe
Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany
Mol Psychiatry 17:421-32. 2012..These data suggest that CNVs have an influence on the development of early-onset, but not later-onset BD. Our study provides further support for previous hypotheses of an etiological difference between early-onset and later-onset BD... - Lack of association between a functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene and tardive dyskinesia in schizophreniaT G Schulze
Department of Psychiatry, University of Bonn, Bonn, Germany
Am J Med Genet 105:498-501. 2001..Thus, our results do not support the hypothesis that the C-->A polymorphism in the CYP1A2 gene is involved in the etiology of TD in the German population... - Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injectionR Kruse
Institute of Human Genetics, University of Bonn, Germany
Fertil Steril 69:482-5. 1998..To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome before ICSI... - Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseR C Betz
Institut fur Humangenetik, Universitat Bonn, Wilhelmstrasse 31, D 53111, Bonn, Germany
Nat Genet 28:218-9. 2001..5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases... - Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsyK Haug
University Department of Human Genetics, Wilhelmstr 31, Bonn, 53111, Germany
Mol Cell Probes 14:255-60. 2000.... - A potassium channel mutation in neonatal human epilepsyC Biervert
Institute for Human Genetics, University of Bonn, Bonn, Germany
Science 279:403-6. 1998..Expression of the mutant channel did not yield measurable currents. Thus, impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome... - Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)O Steinlein
Institute of Human Genetics, University of Bonn, Germany
Genomics 32:289-94. 1996..The sequence analysis provides the basis for a comprehensive mutation screening of CHRNA4 in the above-mentioned phenotypes and possibly in other types of idiopathic epilepsies... - Identification of genetic variation in the human serotonin 1D beta receptor geneM M Nöthen
Institute of Human Genetics, University of Bonn, Germany
Biochem Biophys Res Commun 205:1194-200. 1994..To our knowledge, the Phe-124-Cys substitution is the first natural occurring molecular variant which has been identified for the 5-HT1D beta receptor so far... - The human serotonin 7 (5-HT7) receptor gene: genomic organization and systematic mutation screening in schizophrenia and bipolar affective disorderJ Erdmann
Institute of Human Genetics, University of Bonn, Germany
Mol Psychiatry 1:392-7. 1996..Our data suggests that genetic variation of the 5-HT7 receptor does not play a major role in the development of bipolar affective disorder and schizophrenia... - Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissueY Wang
Institute of Human Genetics, University of Bonn, Germany
Hum Genet 100:362-4. 1997..Thus, the H329P mutation present in the germline can be considered as having an aetiological role in this HNPCC family... - [Detection of germline mutations in the APC gene with the protein truncation test]Xiao Rong Liu
Laboratory of Medical Genetics, Medical School, Nanjing University, Nanjing 210093, China
Yi Chuan Xue Bao 32:903-8. 2005..The protein truncation test is a sensitive and accurate technique to detect truncated mutations especially in the large exons of APC gene. It can be used as an routine method for assisting the early diagnosis of the FAP patients... - Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14B Etain
INSERM U513, Neurobiology and Psychiatry, Faculte de Medecine, Creteil, France
Mol Psychiatry 11:685-94. 2006..51 to 3.83. This study is the first to use early-onset bipolar type I probands in an attempt to increase sample homogeneity. These preliminary findings require confirmation in independent panels of families... - Interrelationship and familiality of dyslexia related quantitative measuresG Schulte-Körne
Department of Child and Adolescent Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany
Ann Hum Genet 71:160-75. 2007..25 and 0.63. Instead of analyzing single dyslexia-related components, multivariate analyses including factor analytic approaches may help in the identification of susceptibility genes... - Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriersAnnegret Müller
Department of General Surgery, University of Gottingen, Gottingen, Germany
Virchows Arch 453:9-16. 2008.... - Muir-Torre syndrome: clinical features and molecular genetic analysisC Esche
Department of Dermatology, Heinrich Heine University, Duesseldorf, Germany
Br J Dermatol 136:913-7. 1997..The search for a causal germline mutation revealed a frameshift mutation in the mismatch repair gene hMSH2 leading to a truncated protein. A presymptomatic molecular diagnosis can be offered to the children of the patient... - A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorderA E Baum
Unit on the Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Disorders Program, US Department of Health and Human Services, National Institute of Mental Health, NIH, Bethesda, MD 20892, USA
Mol Psychiatry 13:197-207. 2008..This first genome-wide association study of bipolar disorder shows that several genes, each of modest effect, reproducibly influence disease risk. Bipolar disorder may be a polygenic disease... - A family-based and case-control association study of trace amine receptor genes on chromosome 6q23 in bipolar affective disorderR Abou Jamra
Mol Psychiatry 10:618-20. 2005 - Exonic variants of the GABA(B) receptor gene and panic disorderP G Sand
Department of Psychiatry, University of Wurzburg, Germany
Psychiatr Genet 10:191-4. 2000..There was no indication of an increased vulnerability to panic disorder or agoraphobia with respect to the allelic variants under study... - Polymorphic MAO-A and 5-HT-transporter genes: analysis of interactions in panic disorderP Sand
Department of Psychiatry, University of Wurzburg, Fuchsleinstr 15, 97080 Wurzburg, Germany
World J Biol Psychiatry 1:147-50. 2000..There was no significant difference in odds ratios, suggesting that the observed increase of genetic liability by the long MAO-A gene promoter allele is not modified by the 5-HTT gene promoter polymorphism... - [Hereditary colorectal carcinoma: predictive diagnosis and genetic counseling]E Mangold
Praxis (Bern 1994) 90:490-6. 2001..Accordingly the German Bundesärztekammer has worked out guidelines for predictive genetic testing in hereditary tumours... - Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association studyD Souery
Department of Psychiatry, University Clinics of Brussels, Erasme Hospital, Free University of Brussels, Brussels, Belgium
Biol Psychiatry 49:405-9. 2001..Several studies have investigated the possible role of TPH polymorphisms in affective disorders and suicidal behavior... - A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndromeE Mangold
J Med Genet 41:567-72. 2004 - Investigation of the DAOA/G30 locus in panic disorderJ Schumacher
Mol Psychiatry 10:428-9. 2005 - The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsyK Haug
University Department of Human Genetics, Wilhelmstr 31, 53111 Bonn, Germany
Epilepsy Res 47:243-6. 2001..A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE... - [S3-Guidelines Conference "Colorectal Carcinoma" 2004]W Schmiegel
,
Z Gastroenterol 42:1129-77. 2004 - No association between a promoter dopamine D(4) receptor gene variant and schizophreniaE G Jönsson
Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institute, SE 171, 76 Stockholm, Sweden
Am J Med Genet 105:525-8. 2001..No significant case control differences emerged. The present results do not support a major role for DRD4 in the etiology of schizophrenia among Caucasians from Sweden... - Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposisS Aretz
J Med Genet 42:185-92. 2005 - Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopeciaA M Hillmer
Am J Hum Genet 69:235-7. 2001 - No association between dopamine D4 receptor gene variants and novelty seekingE G Jönsson
Mol Psychiatry 7:18-20. 2002 - DNA microarray analysis identifies candidate regions and genes in unexplained mental retardationH Engels
Department of Human Genetics, Rheinische Friedrich Wilhelms University, Wilhelmstrasse 31, D 53111 Bonn, Germany
Neurology 68:743-50. 2007..Because in most patients with mental retardation (MR), who constitute 2 to 3% of the population, the etiology remains unknown, we wanted to identify novel chromosomal candidate regions and genes associated with the MR phenotype... - Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndromeN Eter
Br J Ophthalmol 90:1206-7. 2006 - Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type BM Oldridge
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Nat Genet 24:275-8. 2000..Expression of the mouse mouse orthologue, Ror2, early in limb development indicates that BDB arises as a primary defect of skeletal patterning... - [S3-guideline conference "Colorectal Cancer" 2004]W Schmiegel
, , Knappschaftskrankenhaus, Bochum
Dtsch Med Wochenschr 130:S5-53. 2005