P Propping

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. pmc Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers
    Erik G Jonsson
    Department of Clinical Neuroscience, Psychiatry Section, HUBIN project, Karolinska Institutet, Stockholm, Sweden
    BMC Psychiatry 4:4. 2004
  2. pmc Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study
    Daniele Campa
    Genomic Epidemiology Group, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    BMC Gastroenterol 10:112. 2010
  3. ncbi request reprint The biography of psychiatric genetics: from early achievements to historical burden, from an anxious society to critical geneticists
    Peter Propping
    Institute of Human Genetics, University of Bonn, Germany
    Am J Med Genet B Neuropsychiatr Genet 136:2-7. 2005
  4. ncbi request reprint [The genetic revolution-impact on therapy and prevention]
    P Propping
    Institut fur Humangenetik, Rheinische Friedrich Wilhelms Universitat Bonn
    Internist (Berl) 45:S6-14. 2004
  5. ncbi request reprint 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
  6. ncbi request reprint Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families
    M M Nöthen
    Institute of Human Genetics, University of Bonn, Germany
    Mol Psychiatry 4:76-84. 1999
  7. ncbi request reprint Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
    N Rahner
    Institute of Human Genetics, University of Bonn, Germany
    J Pathol 214:10-6. 2008
  8. ncbi request reprint A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
    S Cichon
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Hum Mol Genet 10:2933-44. 2001
  9. pmc Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    W Friedl
    Institute of Human Genetics, University of Bonn, Germany
    Gut 48:515-21. 2001
  10. ncbi request reprint The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
    A M Hillmer
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Br J Dermatol 146:601-8. 2002

Collaborators

Detail Information

Publications81

  1. pmc Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers
    Erik 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...
  2. pmc Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study
    Daniele 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...
  3. ncbi request reprint The biography of psychiatric genetics: from early achievements to historical burden, from an anxious society to critical geneticists
    Peter 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...
  4. ncbi request reprint [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...
  5. ncbi request reprint 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...
  6. ncbi request reprint Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families
    M 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...
  7. ncbi request reprint Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome
    N 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...
  8. ncbi request reprint A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
    S 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...
  9. pmc Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
    W 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...
  10. ncbi request reprint The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
    A 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...
  11. pmc 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 cancer
    C 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...
  12. ncbi request reprint A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25--q26
    S 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...
  13. pmc Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
    K 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...
  14. ncbi request reprint Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder
    B 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...
  15. pmc 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 criteria
    R Kruse
    Institute of Human Genetics, Friedrich Wilhelms University, Bonn, Germany
    Am J Hum Genet 63:63-70. 1998
    ....
  16. ncbi request reprint Association study of the tryptophan hydroxylase gene and bipolar affective disorder using family-based internal controls
    M 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...
  17. ncbi request reprint A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
    S 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...
  18. ncbi request reprint Human delta-opioid receptor gene and susceptibility to heroin and alcohol dependence
    P 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...
  19. ncbi request reprint Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder
    R Abou Jamra
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Mol Psychiatry 13:277-84. 2008
    ....
  20. ncbi request reprint Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to chromosome 15
    M 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...
  21. ncbi request reprint Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients
    B 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...
  22. ncbi request reprint Dopamine D3 receptor variant and tardive dyskinesia
    M 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...
  23. pmc High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
    S 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...
  24. ncbi request reprint Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany
    C 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...
  25. ncbi request reprint Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1
    M 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...
  26. ncbi request reprint Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
    S 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...
  27. ncbi request reprint Systematic investigation of genetic variability in 111 human genes-implications for studying variable drug response
    Y 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...
  28. ncbi request reprint 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
  29. ncbi request reprint Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes
    M Wehner
    Institute of Human Genetics, University of Bonn, Germany
    Hum Mutat 10:241-4. 1997
  30. ncbi request reprint Caught in the trio trap? Potential selection bias inherent to association studies using parent-offspring trios
    T 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...
  31. ncbi request reprint Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder
    J 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...
  32. pmc A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3
    R 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...
  33. ncbi request reprint A similarity-based method for genome-wide prediction of disease-relevant human genes
    J Freudenberg
    Institute of Human Genetics, Bonn University Hospital, Germany
    Bioinformatics 18:S110-5. 2002
    ..Potential disease genes from the human genome are scored by their functional similarity to known disease genes in these clusters, which are phenotypically similar to the query disease...
  34. ncbi request reprint Linkage analyses of chromosomal region 18p11-q12 in dyslexia
    J Schumacher
    Institut fur Humangenetik, Lubeck, 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...
  35. ncbi request reprint Association study of the low-activity allele of catechol-O-methyltransferase and alcoholism using a family-based approach
    T 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...
  36. ncbi request reprint An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
    O 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...
  37. ncbi request reprint Detection of APC and k-ras mutations in the serum of patients with colorectal cancer
    H 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...
  38. ncbi request reprint Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia
    J 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)...
  39. ncbi request reprint A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    O 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...
  40. ncbi request reprint 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...
  41. ncbi request reprint Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients
    W Friedl
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Genes Chromosomes Cancer 25:403-6. 1999
    ..Genes Chromosomes Cancer 25:403-406, 1999...
  42. doi request reprint Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening
    R 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...
  43. pmc A gene for universal congenital alopecia maps to chromosome 8p21-22
    M 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...
  44. ncbi request reprint Nonreplication of association between mu-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependence
    P 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...
  45. ncbi request reprint [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...
  46. ncbi request reprint Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26
    R 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...
  47. ncbi request reprint Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders
    G 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...
  48. doi request reprint Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder
    L 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...
  49. ncbi request reprint Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection
    R 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...
  50. ncbi request reprint Lack of association between a functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene and tardive dyskinesia in schizophrenia
    T 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...
  51. ncbi request reprint Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    R 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...
  52. ncbi request reprint A potassium channel mutation in neonatal human epilepsy
    C 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...
  53. ncbi request reprint Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy
    K Haug
    University Department of Human Genetics, Wilhelmstr 31, Bonn, 53111, Germany
    Mol Cell Probes 14:255-60. 2000
    ....
  54. ncbi request reprint 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...
  55. ncbi request reprint Identification of genetic variation in the human serotonin 1D beta receptor gene
    M 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...
  56. ncbi request reprint 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 tissue
    Y 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...
  57. ncbi request reprint The human serotonin 7 (5-HT7) receptor gene: genomic organization and systematic mutation screening in schizophrenia and bipolar affective disorder
    J 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...
  58. ncbi request reprint Polymorphic MAO-A and 5-HT-transporter genes: analysis of interactions in panic disorder
    P 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...
  59. ncbi request reprint The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy
    K 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...
  60. ncbi request reprint No association between a promoter dopamine D(4) receptor gene variant and schizophrenia
    E 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...
  61. pmc A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
    A 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...
  62. pmc A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome
    E Mangold
    J Med Genet 41:567-72. 2004
  63. ncbi request reprint [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...
  64. doi request reprint Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers
    Annegret Müller
    Department of General Surgery, University of Gottingen, Gottingen, Germany
    Virchows Arch 453:9-16. 2008
    ....
  65. ncbi request reprint Exonic variants of the GABA(B) receptor gene and panic disorder
    P 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...
  66. ncbi request reprint Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association study
    D 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...
  67. ncbi request reprint Interrelationship and familiality of dyslexia related quantitative measures
    G 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...
  68. ncbi request reprint A family-based and case-control association study of trace amine receptor genes on chromosome 6q23 in bipolar affective disorder
    R Abou Jamra
    Mol Psychiatry 10:618-20. 2005
  69. pmc 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 3p14
    B 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...
  70. ncbi request reprint [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...
  71. ncbi request reprint Investigation of the DAOA/G30 locus in panic disorder
    J Schumacher
    Mol Psychiatry 10:428-9. 2005
  72. pmc Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia
    A M Hillmer
    Am J Hum Genet 69:235-7. 2001
  73. ncbi request reprint Muir-Torre syndrome: clinical features and molecular genetic analysis
    C 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...
  74. ncbi request reprint [S3-Guidelines Conference "Colorectal Carcinoma" 2004]
    W Schmiegel
    Ruhr Universitat Bochum, Medizinische Universitatsklinik
    Z Gastroenterol 42:1129-77. 2004
  75. pmc Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis
    S Aretz
    J Med Genet 42:185-92. 2005
  76. ncbi request reprint Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
    M 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...
  77. ncbi request reprint [S3-guideline conference "Colorectal Cancer" 2004]
    W Schmiegel
    Ruhr Universitat Bochum, Medizinische Universitatsklinik, Knappschaftskrankenhaus, Bochum
    Dtsch Med Wochenschr 130:S5-53. 2005
  78. pmc Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome
    N Eter
    Br J Ophthalmol 90:1206-7. 2006
  79. ncbi request reprint DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation
    H 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...
  80. ncbi request reprint No association between dopamine D4 receptor gene variants and novelty seeking
    E G Jönsson
    Mol Psychiatry 7:18-20. 2002