T Eggermann

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint Multi-exon deletion in the XDH gene as a cause of classical xanthinuria
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Germany
    Clin Nephrol 79:78-80. 2013
  2. doi request reprint Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10
    Thomas Eggermann
    Institute of Human Genetics, Aachen, Germany
    Am J Med Genet A 158:2815-9. 2012
  3. doi request reprint 2p21 Deletions in hypotonia-cystinuria syndrome
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Eur J Med Genet 55:561-3. 2012
  4. pmc Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
    Matthias Begemann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    J Med Genet 49:547-53. 2012
  5. doi request reprint Epigenetic and genetic diagnosis of Silver-Russell syndrome
    Thomas Eggermann
    Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Expert Rev Mol Diagn 12:459-71. 2012
  6. pmc Cystinuria: an inborn cause of urolithiasis
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr, 30, Aachen, D 52074, Germany
    Orphanet J Rare Dis 7:19. 2012
  7. pmc The effects of a DTNBP1 gene variant on attention networks: an fMRI study
    Markus Thimm
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Aachen, Germany
    Behav Brain Funct 6:54. 2010
  8. pmc Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects
    Andreas Jansen
    Section of BrainImaging, Department of Psychiatry and Psychotherapy, Philipps University Marburg, Germany
    BMC Psychiatry 9:60. 2009
  9. ncbi request reprint Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases
    T Eggermann
    Institute of Human Genetics, Aachen, Germany
    Genet Couns 15:183-90. 2004
  10. doi request reprint Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Aachen, Germany
    Horm Res 71:30-5. 2009

Collaborators

Detail Information

Publications114 found, 100 shown here

  1. ncbi request reprint Multi-exon deletion in the XDH gene as a cause of classical xanthinuria
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Germany
    Clin Nephrol 79:78-80. 2013
    ....
  2. doi request reprint Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10
    Thomas Eggermann
    Institute of Human Genetics, Aachen, Germany
    Am J Med Genet A 158:2815-9. 2012
    ..Indeed, it is necessary to compare the regions of imbalances in 7p12 and the affected genes in the different patients as other genes than GRB10 in 7p12 might cause these aberrant growth phenotypes...
  3. doi request reprint 2p21 Deletions in hypotonia-cystinuria syndrome
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Eur J Med Genet 55:561-3. 2012
    ..In diagnostic strategies to identify the molecular basis of both cystinuria and hypotonia 2p21 deletions should be considered as the molecular basis of the phenotype...
  4. pmc Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
    Matthias Begemann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    J Med Genet 49:547-53. 2012
    ..Furthermore, these cases provide us with profound insights in the complex regulation of the (imprinted) factors localised in 11p15...
  5. doi request reprint Epigenetic and genetic diagnosis of Silver-Russell syndrome
    Thomas Eggermann
    Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Expert Rev Mol Diagn 12:459-71. 2012
    ..However, future next-generation sequencing approaches will allow a comprehensive analysis of all types of alterations in SRS...
  6. pmc Cystinuria: an inborn cause of urolithiasis
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr, 30, Aachen, D 52074, Germany
    Orphanet J Rare Dis 7:19. 2012
    ..In our review we will summarize the current knowledge on the physiological and the genetic basis of cystinuria as an inborn cause of kidney stones, and the application of this knowledge in genetic testing strategies...
  7. pmc The effects of a DTNBP1 gene variant on attention networks: an fMRI study
    Markus Thimm
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Aachen, Germany
    Behav Brain Funct 6:54. 2010
    ..Given the high heritability of schizophrenia the question arises if impaired function of these networks is modulated by susceptibility genes and detectable in healthy risk allele carriers...
  8. pmc Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects
    Andreas Jansen
    Section of BrainImaging, Department of Psychiatry and Psychotherapy, Philipps University Marburg, Germany
    BMC Psychiatry 9:60. 2009
    ..In the present study, we therefore examined the relationship between G72 genotype status and a broad range of cognitive functions in 423 healthy individuals...
  9. ncbi request reprint Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases
    T Eggermann
    Institute of Human Genetics, Aachen, Germany
    Genet Couns 15:183-90. 2004
    ..Therefore, a prenatal testing for UPD(16) is not useful, but it should be offered postnatally. The molecular genetic proof of maternal UPD(16) excludes an increased recurrence risk for the family for further pregnancies...
  10. doi request reprint Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Aachen, Germany
    Horm Res 71:30-5. 2009
    ..Future studies will clarify the complex basis of human growth and hopefully contribute to better-directed therapies...
  11. doi request reprint Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
    Thomas Eggermann
    Institute of Human Genetics, Pauwelsstr 30, D 52074 Aachen, Germany
    Pediatrics 123:e929-31. 2009
    ....
  12. ncbi request reprint Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing
    Thomas Eggermann
    Institute of Human Genetics, University s Hospital Aachen, Aachen, Germany
    Mol Diagn 7:113-7. 2003
    ..While UPDs of chromosomes 13, 21, and 22 have no clinical consequences, and therefore have no diagnostic impact despite of homozygosity of recessive alleles, prenatal testing for UPDs 14 or 15 is becoming increasingly asked for...
  13. doi request reprint Epigenetic regulation of growth: lessons from Silver-Russell syndrome
    Thomas Eggermann
    Institute of Human Genetics, University Hospital, RWTH Aachen, Germany
    Endocr Dev 14:10-9. 2009
    ..Because of the different imprinting regions involved, SRS is a suitable model to decipher the role of imprinting in growth and the functional interaction between imprinted genes in different genomic regions...
  14. ncbi request reprint Diagnostic proceeding in Silver-Russell syndrome
    Thomas Eggermann
    Institute of Human Genetics, Aachen, Germany
    Mol Diagn 9:205-9. 2005
    ..Here, we report on our experiences of UPD testing in patients referred to our laboratory with the clinical diagnosis of SRS. A diagnostic algorithm for SRS is suggested...
  15. ncbi request reprint ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Germany
    J Pediatr Endocrinol Metab 21:59-62. 2008
    ..The low detection rate of the ICR1 epimutation in our 'SRS' group can be explained by the clinical heterogeneity of cases referred by external institutions...
  16. ncbi request reprint A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches
    Thomas Eggermann
    Institute of Human Genetics, Technical University of Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Neuromuscul Disord 18:146-9. 2008
    ..The results have major impacts on genetic counselling and carrier detection of the patient's paternal relatives...
  17. doi request reprint Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Trends Genet 24:195-204. 2008
    ..e. chromosomes 7 and 11). Thus, a functional interaction between factors encoded by chromosomes 7 and 11 is likely...
  18. ncbi request reprint Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene
    Thomas Eggermann
    Institute of Human Genetics, University of Technology, Aachen, Germany
    Eur J Hum Genet 13:309-13. 2005
    ..Final conclusions for genetic counselling were only possible after both linkage analysis and quantitative real-time PCR analysis of SMN1 copy numbers...
  19. ncbi request reprint Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face
    Thomas Eggermann
    Institute of Human Genetics, University Hospital Aachen, Germany
    Clin Dysmorphol 15:9-12. 2006
    ....
  20. ncbi request reprint Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
    T Eggermann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Clin Genet 73:79-84. 2008
    ..Considering maternal UPD7 and chromosomal aberrations, (epi)genetic alterations now account for more than 50% of SRS patients. In summary, MLPA represents an easy, low cost and reliable system in the molecular diagnostics of SRS...
  21. ncbi request reprint Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q
    Thomas Eggermann
    Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
    Am J Med Genet A 134:305-8. 2005
    ..The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether tetrasomy of proximal 14q is a separate entity...
  22. doi request reprint Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Am J Med Genet A 152:356-9. 2010
    ..We conclude that DSCR1/RCAN is not sufficient for generating phenotypic features associated with DS but our observation does not contradict a possible role for DSCR1/RCAN in mediating DYRK1A-based effects...
  23. doi request reprint Russell-Silver syndrome
    Thomas Eggermann
    Institute of Human Genetics, Pauwelsstr 30, D 52074 Aachen, Germany
    Am J Med Genet C Semin Med Genet 154:355-64. 2010
    ..Furthermore, the pathophysiological mechanisms resulting in the RSS phenotype still remain unknown despite the recent progress in deciphering the molecular defects associated with this condition...
  24. ncbi request reprint Uniparental disomy: clinical indications for testing in growth retardation
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Eur J Pediatr 161:305-12. 2002
    ....
  25. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0543
    T Eggermann
    Institute of Human Genetics, University Hospital RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany
    Hum Genet 118:779. 2006
  26. pmc Silver-Russell syndrome: genetic basis and molecular genetic testing
    Thomas Eggermann
    RWTH Aachen, Institute of Human Genetics, Aachen, Germany
    Orphanet J Rare Dis 5:19. 2010
    ..We therefore suggest a diagnostic algorithm focused on the 11p15 hypomethylation, UPD(7)mat and cryptic chromosomal imbalances for patients with typical SRS phenotype, but also with milder clinical signs only reminiscent for the disease...
  27. doi request reprint Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Germany
    Am J Med Genet A 152:1484-7. 2010
    ..The balanced aberrant karyotype was identified in several other family members, but interestingly there was no history of recurrent miscarriages, intrauterine fetal death, or multiple congenital anomaly syndromes in the family...
  28. doi request reprint Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders
    Thomas Eggermann
    Institute of Human Genetics, RWTH Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Epigenomics 3:625-37. 2011
    ..The molecular analysis of MLMD will help in discovering these interactions and contribute to the understanding of genomic imprinting and its disturbances...
  29. ncbi request reprint (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
    N Schönherr
    Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Eur J Med Genet 49:414-8. 2006
    ..While the ICR1 epimutation is detectable with a significant frequency only in SRS patients, its role for isolated growth retardation remains to be elucidated...
  30. doi request reprint Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
    S Rudnik-Schoneborn
    Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Clin Genet 76:168-78. 2009
    ....
  31. ncbi request reprint Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH
    A Roos
    Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    Eur J Med Genet 49:505-10. 2006
    ....
  32. ncbi request reprint Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls
    C Schmidt
    Institute of Human Genetics, Technical University of Aachen, Germany
    Clin Nephrol 59:353-9. 2003
    ..872C>T (exon 6). In summary, our results show that cystinuria is a complex disease which is not only caused by mutations in SLC7A9 and SLC3A1, but also influenced by other modifying factors such as variants in SLC7A9...
  33. pmc Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
    T Eggermann
    Institute of Human Genetics, Technical University of Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
    J Med Genet 38:86-9. 2001
    ..Based on our results, general considerations and indications for UPD testing are discussed...
  34. doi request reprint Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
    S Spengler
    Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    J Med Genet 47:356-60. 2010
    ..Thus, molecular karyotyping is indicated in SRS and should be included in the diagnostic algorithm...
  35. ncbi request reprint [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome]
    S Mergenthaler
    Institute of Human Genetics, Technical University of Aachen,
    Orv Hetil 142:1561-4. 2001
    ..Additionally, cytogenetic analysis should also be performed in SRS patients: identification of commonly involved chromosomal regions should allow narrowing down a SRS-relevant region...
  36. ncbi request reprint Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease
    C Schmidt
    Institute of Human Genetics, Technical University of Aachen, Germany
    Clin Nephrol 57:342-8. 2002
    ..However, the presented data show that testing for mutations in the 2 currently known cystinuria genes is already a meaningful approach to the molecular diagnostics of the disease...
  37. doi request reprint Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q
    A Roos
    Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
    Am J Med Genet A 146:795-8. 2008
  38. ncbi request reprint Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype
    E Brauers
    Institute of Human Genetics, University Hospital, RWTH Aachen, Germany
    Clin Nephrol 65:262-6. 2006
    ..It is conceivable that this distribution is caused by the association of certain alleles with so far undetected mutations in the gene...
  39. ncbi request reprint Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13
    S Mergenthaler
    Institute of Human Genetics, Technical University of Aachen, Pauwelsstrasse 30, D-52074 Aachen, Germany
    Genet Test 5:261-6. 2001
    ..4% (GRB10) and 5% (IGFBP1). By testing and evaluating quantitative competitive PCR for various loci, we developed a practical approach for gene dosage analysis which can be easily established for routine purposes...
  40. ncbi request reprint LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants
    Susanne Jäger
    Institute of Human Genetics, Aachen, Germany
    J Pediatr Endocrinol Metab 22:555-9. 2009
    ..Interestingly, two of these variants, g.10212T/A and g.10214C/A, showed strict association. However, our results do not indicate a relevant role of mutations in LOT1(ZAC1/PLAGL1) in the etiology of SRS...
  41. doi request reprint Effect of COMT val158met genotype on cognition and personality
    A J Sheldrick
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Eur Psychiatry 23:385-9. 2008
    ..Furthermore, we replicated findings from a recent study whereby the COMT genotype also predicts disorganized personality features...
  42. ncbi request reprint Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25
    Sebastian Prager
    Institute of Human Genetics, RWTH Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Genet Test 7:259-63. 2003
    ..Investigation of CSH1 deletions in further SRS and growth retarded patients will enable us to establish under which circumstances haploinsufficiency of CSH1 is likely to result in clinical changes...
  43. pmc The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
    Nadine Schönherr
    Institute of Human Genetics, Pauwelsstr 30, D 52074 Aachen, Germany
    J Med Genet 44:59-63. 2007
    ..This study provides evidence for a role for this imprinting centre in the aetiology of SRS and shows that SRS presents a picture genetically opposite to that of BWS...
  44. ncbi request reprint DNA diagnosis in hereditary nephropathies
    K Zerres
    Institute of Human Genetics, Technical University, Aachen, Germany
    Clin Nephrol 56:181-92. 2001
    ..The current status of DNA diagnostics in hereditary nephropathies is summarized in this review, which includes a discussion of the major principles and limitations...
  45. ncbi request reprint Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients
    Caitriona Obermann
    Institute of Human Genetics, University Hospital, RWTH, Aachen, Germany
    Mol Genet Metab 82:246-50. 2004
    ..In CDKN1C, several variants could be identified in both cohorts with similar frequencies, but only one patient showed a so far unknown variant not detectable in controls...
  46. ncbi request reprint The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria
    Christa Schmidt
    Institute of Human Genetics, Aachen University Hospital, Pauwelsstrasse 30, 52074 Aachen, Germany
    Urol Res 32:75-8. 2004
    ..The test consists of nine different PCR-based approaches and therefore represents a low-cost, reliable and timesaving diagnostic tool...
  47. doi request reprint Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
    M Begemann
    Institute of Human Genetics, RWTH, Aachen, Germany
    Clin Genet 80:83-8. 2011
    ..In conclusion, our data reflect the broad range of epimutations in SRS and illustrate that an extensive molecular and clinical characterization of patients is necessary...
  48. ncbi request reprint Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients
    S Mergenthaler
    Institute of Human Genetics, Technical University of Aachen, Germany
    Hum Mutat 16:96. 2000
  49. ncbi request reprint Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature
    Regine Schubert
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet 110:278-82. 2002
    ..Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging...
  50. ncbi request reprint Search for mutations in SLC1A5 (19q13) in cystinuria patients
    E Brauers
    Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    J Inherit Metab Dis 28:1169-71. 2005
    ..Of course, there remains the possibility that other genes are involved in cystinuria; further molecular studies will clarify the complex nature of this disorder...
  51. doi request reprint Congenital heart disease is a feature of severe infantile spinal muscular atrophy
    S Rudnik-Schoneborn
    Institute of Human Genetics, Technical University of Aachen, Pauwelsstr 30, D 52074 Aachen, Germany
    J Med Genet 45:635-8. 2008
    ..Lack of SMN protein results in degeneration of motor neurons, while extraneuronal manifestations have been regarded as a chance association with SMA. We report on heart defects in the subgroup of congenital SMA type I patients...
  52. doi request reprint Abnormalities in tooth morphology, structure and dentition in two children with chromosome aberrations. Translocation trisomy 13 and trisomy 21
    A Roos
    Institute of Human Genetics, RWTH Aachen, Germany
    Adv Med Sci 53:17-20. 2008
    ....
  53. pmc Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients
    E Meyer
    Institute of Human Genetics, University Hospital, Aachen, Germany
    J Med Genet 40:e65. 2003
  54. ncbi request reprint Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases
    Katja Eggermann
    Institute of Human Genetics, RWTH Aachen, Pauwelsstrasse 30, D 52076 Aachen, Germany
    Clin Genet 62:89-93. 2002
    ..The majority of SMC(15) are pseudodicentric homologous rearrangements. Based on our investigations a further characterization of der(15) was possible...
  55. ncbi request reprint Origin of uniparental disomy 6: presentation of a new case and review on the literature
    T Eggermann
    , RWTH, Aachen, Germany
    Ann Genet 44:41-5. 2001
    ..Multiple factors ensure normal segregation and we speculate that they vary in importance for each chromosome...
  56. doi request reprint Genetic analysis of the angiotensinogen gene in pre-eclampsia: study of german women and review of the literature
    Elke Knyrim
    Institute of Human Genetics, University Hospital of Aachen, Aachen, Germany
    Gynecol Obstet Invest 66:203-8. 2008
    ....
  57. ncbi request reprint Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
    Kathrin Huehne
    University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany
    Neuromuscul Disord 18:159-66. 2008
    ..7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation...
  58. ncbi request reprint New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
    K Zerres
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    Clin Genet 66:53-7. 2004
    ..We for the first time report two cases with PD based on mutation detection, illustrating the new options for PD in ARPKD...
  59. pmc Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)
    C Bergmann
    Institut fur Humangenetik, Universitätsklinikum der RWTH Aachen, Germany
    J Med Genet 39:e58. 2002
  60. doi request reprint Effects of a CACNA1C genotype on attention networks in healthy individuals
    M Thimm
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Germany
    Psychol Med 41:1551-61. 2011
    ..The particular effect of CACNA1C on neural function, such as attention networks, remains to be elucidated...
  61. doi request reprint Interleukin-1 polymorphisms in relation to external apical root resorption (EARR)
    Norbert Gülden
    Department of Orthodontics, RWTH Aachen University, Aachen, Germany
    J Orofac Orthop 70:20-38. 2009
    ..The aim of this study was to investigate this kind of relationship as dependent on the EARR phenotype. Alleles from IL-1A and IL-1B gene polymorphisms are discussed as genetically predisposing factors...
  62. ncbi request reprint PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 23:453-63. 2004
    ..A constantly updated list of mutations is available online (www.humgen.rwth-aachen.de) and investigators are invited to submit their novel data to this PKHD1 mutation database...
  63. ncbi request reprint Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    Carsten Bergmann
    Institute of Human Genetics, Aachen University, Aachen, Germany
    J Am Soc Nephrol 14:76-89. 2003
    ..Direct identification of mutations allows an unequivocal diagnosis and accurate genetic counseling even in families displaying diagnostic challenges...
  64. doi request reprint Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees
    Hartmut Engels
    Institute of Human Genetics, Bonn, Germany
    Am J Med Genet A 146:2611-6. 2008
    ..4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample...
  65. ncbi request reprint PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Hum Mutat 23:487-95. 2004
    ..PKHD1 mutation analysis has proven to be an efficient and effective means to establish the diagnosis of ARPKD...
  66. doi request reprint A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant
    Andreas Roos
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Am J Med Genet A 146:2417-20. 2008
    ..Both cases indicate that this 13q21 deletion can be added to the growing list of euchromatic imbalances without obvious phenotypic abnormalities...
  67. ncbi request reprint Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes
    Elke Botzenhart
    Institute of Human Genetics, Technical University of Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Kidney Int 62:1136-42. 2002
    ..In this study, we searched for mutations in both genes in a cohort of children with cystinuria...
  68. ncbi request reprint Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria
    Christa Schmidt
    Institute of Human Genetics, Technical University of Aachen, Aachen, Germany
    Kidney Int 64:1564-72. 2003
    ..Here, we report our results of a systematic screening for deletions and duplications in SLC3A1 and SLC7A9 by quantitative real-time polymerase chain reaction (PCR)...
  69. doi request reprint Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation
    Sabine Rudnik-Schoneborn
    Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Am J Med Genet A 152:1540-4. 2010
    ..Cys232Trp, in the NOG gene. While not yet described in human NOG-related disorders, there is experimental evidence that suppression of noggin might accelerate osteogenesis, which could explain the phenotype in the family reported here...
  70. doi request reprint MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome
    Nadine Bachmann
    Institute of Human Genetics, Technical University, Pauwelsstrasse 30, Aachen, Germany
    Eur J Med Genet 53:23-4. 2010
    ..Thus we assume that genomic mutations of MBD3 are not relevant for the aetiology of the ICR1 hypomethylation and therefore for SRS...
  71. ncbi request reprint Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Brain 126:1537-44. 2003
    ..Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy...
  72. ncbi request reprint Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
    ..Therefore, determination of SMN1 and SMN2 copy numbers should only be offered after careful consideration in each case...
  73. doi request reprint Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I, and IGF-IR in intrauterine growth restriction with abnormal placental blood flow
    Sabine Muetze
    Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany
    J Matern Fetal Neonatal Med 23:142-7. 2010
    ....
  74. doi request reprint Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals
    Valentin Markov
    Department of Psychiatry and Psychotherapy, Medical Faculty, RWTH Aachen University, Aachen, Germany
    Hum Brain Mapp 31:266-75. 2010
    ..The increased activation in these brain areas may be a consequence of "inefficient" or compensatory DLPFC cognitive control functions...
  75. doi request reprint The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval
    Markus Thimm
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, 52074 Aachen, Germany
    Hum Brain Mapp 31:203-9. 2010
    ..Interestingly, the laterality of increased prefrontal activity is in accordance with the well known hemispheric encoding/retrieval asymmetry (HERA) model of episodic memory...
  76. ncbi request reprint Autosomal recessive polycystic kidney disease (ARPKD)
    Klaus Zerres
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    J Nephrol 16:453-8. 2003
    ..Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along with the advantages and limitations of mutation detection in clinical practice...
  77. doi request reprint Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations
    Sabrina Spengler
    Institute of Human Genetics, RWTH Aachen, Germany
    Eur J Med Genet 52:415-6. 2009
    ..In conclusion, this study does not provide evidence that ZFP57 mutations are the cause of 11p15-hypomethylation in SRS patients and contribute to the aetiology of SRS...
  78. doi request reprint Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals
    Axel Krug
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Pauwelsstr 30, 52074 Aachen, Germany
    Neuroimage 42:1569-76. 2008
    ..Our results are in line with functional imaging studies in patients with schizophrenia, which also showed a differential activation in lateral prefrontal areas...
  79. ncbi request reprint Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, RWTH Aachen University, Pauwelsstr 30, 52074 Aachen, Germany
    Neurogenetics 8:137-42. 2007
    ..Particularly, if neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis...
  80. ncbi request reprint Are H19 variants associated with Silver-Russell syndrome?
    Nadine Schönherr
    Institute of Human Genetics, University Hospital RWTH Aachen, Germany
    J Pediatr Endocrinol Metab 21:985-93. 2008
    ....
  81. ncbi request reprint Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome
    Sabine Mütze
    Institute of Human Genetics, Department of Obstetrics and Gynecology, University Hospital of Aachen, Germany
    J Perinat Med 35:76-8. 2007
    ..Since information on the fetal carrier status of the E474Q mutation in maternal HELLP syndrome is rare, we investigated the frequency of the E474Q mutation in families where the mother had HELLP syndrome...
  82. pmc Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
    Miriam Elbracht
    Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
    J Med Genet 44:e81. 2007
    ..Although TMPRSS3 mutations are supposed to be a rare cause of autosomal recessive hearing loss, in families with postlingual disease onset TMPRSS3 is the most favourable candidate gene after exclusion of GJB2 mutations...
  83. ncbi request reprint The 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene is not associated with HELLP syndrome
    Sabine Muetze
    Department of Obstetrics and Gynecology, Aachen University RWTH, Aachen, Germany
    J Thromb Thrombolysis 27:141-5. 2009
    ....
  84. doi request reprint Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome
    Katja Eggermann
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Genet Test 12:111-3. 2008
    ..It can therefore be concluded that this type of chromosomal aberration does not belong to the genetic causes of SRS and it is not necessary to include this test in the diagnostic algorithm of the disease...
  85. ncbi request reprint No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation
    Nadine Schönherr
    Institute of Human Genetics, Technical University of Aachen, Germany
    J Pediatr Endocrinol Metab 20:1329-31. 2007
    ..We showed that further epigenetic defects did not occur in the groups of SRS with LOM of ICR1 or mUPD7, and that these subentities do not belong to the diseases with a general hypomethylation defect, such as TNDM and BWS...
  86. doi request reprint Sequence variations in subjects with self-reported multiple chemical sensitivity (sMCS): a case-control study
    Gerhard A Wiesmüller
    Institute of Hygiene and Environmental Medicine, RWTH Aachen University, Aachen, Germany
    J Toxicol Environ Health A 71:786-94. 2008
    ..Therefore, further research needs to focus on a unique phenomenological characterization of MCS...
  87. doi request reprint Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals
    Axel Krug
    Department of Psychiatry and Psychotherapy, RWTH Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Eur Psychiatry 23:344-9. 2008
    ..The impact of this gene might also modulate personality traits in healthy subjects...
  88. doi request reprint No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients
    Nadine Schöherr
    Institute of Human Genetics, RWTH Aachen, University Hospital, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Eur J Med Genet 51:322-4. 2008
    ..However, the role of imprinting disturbances in other genes cannot be excluded...
  89. doi request reprint No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients
    Friederike Malycha
    Department of Human Genetics, Division of Nephrology and Immunology, Aachen, Germany
    Nephrol Dial Transplant 24:321-4. 2009
    ..Mosaic mutations of cosmc have been shown to result in autoimmune disease. We hypothesized that cosmc mutations might contribute to the altered IgA1 galactosylation in IgAN patients...
  90. doi request reprint Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals
    V Markov
    Department of Psychiatry and Psychotherapy, Medical Faculty, RWTH Aachen University, Aachen, Germany
    Neuroimage 47:2016-22. 2009
    ..Carriers may exhibit higher processing efforts to reach the same behavioural performance as non-carriers as reflected in activation of schizophrenia-related regions...
  91. ncbi request reprint Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping
    Christa Schmidt
    Institute of Human Genetics, University Hospital, Technical University of Aachen, Germany
    Mol Genet Metab 84:172-5. 2005
    ..605-3A causes exon skipping and therefore represents a splice site mutation. To the best of our knowledge, this is the first splice site mutation in a cystinuria gene with a proven functional consequence...
  92. ncbi request reprint Gene symbol: SLC7A9. Disease: Cystinuria. Accession #Hm0545
    Eva Brauers
    Institute of Human Genetics, Pauwelsstrasse 30, 52074 Aachen, Germany
    Hum Genet 118:780. 2006
  93. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0547
    Eva Brauers
    Institute of Human Genetics, Pauwelsstrasse 30, 52074 Aachen, Germany
    Hum Genet 118:780. 2006
  94. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria. Accession #Hm0546
    Eva Brauers
    Institute of Human Genetics, Pauwelsstrasse 30, 52074 Aachen, Germany
    Hum Genet 118:780. 2006
  95. ncbi request reprint Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome
    Gerhard Binder
    University Children s Hospital and Growth Research Center, Tubingen, Germany
    J Pediatr Endocrinol Metab 15:1167-71. 2002
    ..Our data do not support the suggestion that the IGF-I receptor is frequently involved in the pathogenesis of SRS...
  96. ncbi request reprint Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria
    Sven Lahme
    Department of Urology, University of Tubingen, Germany
    Urol Int 69:207-11. 2002
    ..From the point of view of the urologist, patients suffering from cystine stones represent an important population because they develop a great number of recurrences which necessitate frequent stone removal...
  97. ncbi request reprint Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
    Christoph S Clemen
    Department of Neurology, Medical Faculty, University of Bonn, Sigmund Freud Str 25, 53127 Bonn, FRG
    FEBS Lett 579:3777-82. 2005
    ..They indicated a shift of the main hsp27-spot to alkaline pH degrees, which may help to differentiate primary desminopathies from other myopathies with structural pathology of the desmin cytoskeleton...
  98. ncbi request reprint Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients
    Thomas Eggermann
    Mol Genet Metab 90:224-6. 2007
  99. ncbi request reprint Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
    Luiz F Onuchic
    Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
    Am J Med Genet 110:346-52. 2002
    ..This further refinement of the PKHD1 interval will facilitate efforts to identify the PKHD1 gene by positional cloning. These data also provide additional, highly polymorphic markers for haplotype-based diagnostic testing for ARPKD...
  100. ncbi request reprint On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
    Rolf Schroder
    Department of Neurology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Hum Mol Genet 12:657-69. 2003
    ..As a consequence, the intermediate filament pathology-induced mitochondrial dysfunction may contribute to the degeneration/regeneration process leading to progressive muscle dysfunction in human desminopathies...
  101. pmc PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
    Luiz F Onuchic
    Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
    Am J Hum Genet 70:1305-17. 2002
    ....