B Horsthemke

Summary

Affiliation: University of Essen
Country: Germany

Publications

  1. ncbi request reprint Genomic organization and promoter structure of the human EXT1 gene
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Genomics 40:351-4. 1997
  2. ncbi request reprint Epimutations in human disease
    B Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Curr Top Microbiol Immunol 310:45-59. 2006
  3. ncbi request reprint Imprinting defects on human chromosome 15
    B Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Genome Res 113:292-9. 2006
  4. ncbi request reprint Assisted reproduction: the epigenetic perspective
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Reprod Update 11:473-82. 2005
  5. ncbi request reprint Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 12:2723-32. 2003
  6. ncbi request reprint Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, Essen, D 45122, Germany
    Genomics 65:174-83. 2000
  7. ncbi request reprint The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    M Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 10:2687-700. 2001
  8. ncbi request reprint Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Clin Genet 58:284-90. 2000
  9. pmc A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Federal Republic of Germany
    Proc Natl Acad Sci U S A 89:5457-61. 1992
  10. ncbi request reprint Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Cell Genet 81:247-53. 1998

Collaborators

Detail Information

Publications58

  1. ncbi request reprint Genomic organization and promoter structure of the human EXT1 gene
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Genomics 40:351-4. 1997
    ..Such a promoter is characteristic for housekeeping genes. This finding is in good agreement with the ubiquitous expression of the EXT1 gene...
  2. ncbi request reprint Epimutations in human disease
    B Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Curr Top Microbiol Immunol 310:45-59. 2006
    ..It has been estimated that the rate of primary epimutations is one or two orders of magnitude greater than somatic DNA mutation. Therefore, the contribution of epimutations to human disease is probably underestimated...
  3. ncbi request reprint Imprinting defects on human chromosome 15
    B Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Genome Res 113:292-9. 2006
    ..In the majority of patients with an imprinting defect, the incorrect imprint has arisen without a DNA sequence change, possibly as the result of stochastic errors of the imprinting process or the effect of exogenous factors...
  4. ncbi request reprint Assisted reproduction: the epigenetic perspective
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Reprod Update 11:473-82. 2005
    ..In addition, loss of epigenetic control may expose hidden genetic variation...
  5. ncbi request reprint Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 12:2723-32. 2003
    ....
  6. ncbi request reprint Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, Essen, D 45122, Germany
    Genomics 65:174-83. 2000
    ..By zoo-blot analysis, we found related sequences in DNA from other primates, but not in nonprimate DNA. We conclude that C15orf2 may play a role in primate spermatogenesis...
  7. ncbi request reprint The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    M Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 10:2687-700. 2001
    ..As we have not obtained any evidence for other genes in this region, which, from the mouse data appears to be critical for the neonatal Prader-Willi syndrome phenotype, a lack of these snoRNAs may be causally involved in this disease...
  8. ncbi request reprint Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Clin Genet 58:284-90. 2000
    ..The silent transmission of PWS IC deletions through the female germline and the occurrence of neutral microdeletions close to the IC can impose considerable problems on diagnostic testing and genetic counselling in affected families...
  9. pmc A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Federal Republic of Germany
    Proc Natl Acad Sci U S A 89:5457-61. 1992
    ..The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders...
  10. ncbi request reprint Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Cytogenet Cell Genet 81:247-53. 1998
    ..The close proximity of the D15F37 loci and the deletion breakpoints suggests that the common deletions arise by unequal crossover events at or near these loci...
  11. ncbi request reprint The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    C Farber
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 8:337-43. 1999
    ..We conclude that elements of the IC region have undergone multiple duplication events and that u5 or a sequence close by may play a role in maternal imprinting...
  12. ncbi request reprint The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions
    J Nardmann
    , , Essen, Germany
    Hum Genet 99:638-43. 1997
    ..Using three LGCR microsatellite markers, we determined the parental origin of this TRPS I deletion and of eight TRPS II deletions. In six patients, the deletion was of paternal origin and in three patients it was of maternal origin...
  13. pmc Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, 45122 Essen, Germany
    Am J Hum Genet 68:81-91. 2001
    ..Our data indicate that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene...
  14. ncbi request reprint Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Hum Genet 105:619-28. 1999
    ..Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome...
  15. ncbi request reprint Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
    M Runte
    , , Essen, Germany
    Eur J Hum Genet 9:519-26. 2001
    ..In some cases, these changes may reflect incomplete imprint spreading...
  16. ncbi request reprint A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Genet 105:665-6. 1999
    ..We have now identified a 5-kb IC deletion in an English AS patient (AS-LO); this represents the smallest microdeletion found in AS and narrows down the shortest region of deletion overlap to 880 bp...
  17. ncbi request reprint The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene
    O Schmidt
    , , Essen, Germany
    Hum Genet 105:662-4. 1999
    ..No deletion could be detected in 32 unrelated patients with an apparently normal karyotype. Sequence analysis of all exons in 15 unrelated patients did not reveal any point mutation either. Our data exclude EIF3S3 as the TRPS1 gene...
  18. pmc Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays
    M Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Nucleic Acids Res 27:e30. 1999
    ..This shows that our novel approach can be effective...
  19. ncbi request reprint Identification of novel exons 3' to the human SNRPN gene
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Genomics 40:132-7. 1997
    ....
  20. ncbi request reprint Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
    B Dittrich
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Nat Genet 14:163-70. 1996
    ..This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts...
  21. pmc Disruption of the bipartite imprinting center in a family with Angelman syndrome
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Am J Hum Genet 68:1290-4. 2001
    ..Our findings suggest that the close proximity and/or the correct orientation of the two IC elements are/is necessary for the establishment of a maternal imprint...
  22. ncbi request reprint Construction and characterization of band-specific DNA libraries
    H J Ludecke
    Institut fur Humangenetik, Universitatsklinikum, Essen, Federal Republic of Germany
    Hum Genet 84:512-6. 1990
    ..1), Wilms tumor chromosome region 1 (WT1, 11p13), Prader-Willi syndrome/Angelman syndrome chromosome region (PWCR/ANCR, 15q11.2-12), meningioma chromosome region (MGCR, 22q12-13), and fragile X chromosome region (FRAXA, Xq27.3)...
  23. ncbi request reprint The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13
    K Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 87:125-31. 1999
    ..2. Although PARN and F37 gene sequences are present on 15q and 16p, our data suggest that the synteny of these loci is the result of independent genetic events...
  24. ncbi request reprint Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
    P Momeni
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Nat Genet 24:71-4. 2000
    ..We identified six different nonsense mutations in ten unrelated patients. Our findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I...
  25. ncbi request reprint Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Genet 94:349-54. 1994
    ..We propose that reduced penetrance of retinoblastoma is the result of a residual function of these alleles in retinoblastoma precursor cells...
  26. ncbi request reprint The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 76:164-6. 1997
    ..55 cM between D15Mit143 and D15Mit153 on mouse chromosome 15. Therefore, Ext1 is part of an evolutionarily conserved linkage group including SDC2/Hspg1, TRHR/Trhr, EXT1/Ext1, MYC/Myc, and TG/Tgn...
  27. ncbi request reprint Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma
    F Tschentscher
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Cancer Res 61:3439-42. 2001
    ..5 Mb in 3p25. This SRO does not overlap with the VHL gene. Our finding suggests a role for two tumor suppressor genes in metastasizing uveal melanoma and may explain the loss of an entire chromosome 3 in these tumors...
  28. ncbi request reprint A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
    G Gillessen-Kaesbach
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Eur J Hum Genet 7:638-44. 1999
    ..We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism...
  29. ncbi request reprint Spectrum of small length germline mutations in the RB1 gene
    D R Lohmann
    Institut fur Humangenetik, Universitäklinikum Essen, Germany
    Hum Mol Genet 3:2187-93. 1994
    ..Particularly, the two patients with in-frame mutations showed a high number of tumours consistent with regular-penetrance retinoblastoma...
  30. pmc Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Am J Hum Genet 61:282-94. 1997
    ..In conclusion, our results emphasize that the manifestation and transmissibility of retinoblastoma depend on the nature of the first mutation, its time in development, and the number and types of cells that are affected...
  31. ncbi request reprint [Genetic and molecular diagnostics in retinoblastoma]
    D Lohmann
    Institut für Humangenetik der Universität, Essen
    Klin Monbl Augenheilkd 213:191-6. 1998
    ..Using these methods, the oncogenic mutation can be identified in most patients. Therefore, predictive testing has become an integral part of contemporary management of retinoblastoma...
  32. ncbi request reprint Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals
    W Siffert
    Institute für Pharmakologie, Universitatsklinikum Essen, Germany
    J Am Soc Nephrol 10:1921-30. 1999
    ..It is anticipated that high frequencies of the 825T allele in Africans and Asians may contribute to an obesity and hypertension epidemic if Westernization of lifestyles continues...
  33. ncbi request reprint A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8
    B La Pillo
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Mol Genet 2:1331. 1993
  34. ncbi request reprint Association of a human G-protein beta3 subunit variant with hypertension
    W Siffert
    Institut fur Pharmakologie, Universitatsklinikum Essen, Germany
    Nat Genet 18:45-8. 1998
    ..Genotype analysis of 427 normotensive and 426 hypertensive subjects suggests a significant association of the T allele with essential hypertension...
  35. ncbi request reprint C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Genomics 89:588-95. 2007
    ..Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS...
  36. doi request reprint Mechanisms of imprinting of the Prader-Willi/Angelman region
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 146:2041-52. 2008
    ..Imprinting defects affecting the PWS/AS region can arise from failure to demethylate the PWS-SRO in the male germ line, from failure to methylate the maternal PWS-SRO, or from failure to maintain PWS-SRO methylation after fertilization...
  37. ncbi request reprint Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
    Corinna Zogel
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 14:752-8. 2006
    ..028). Our findings suggest that women with the IC haplotype H-AS3 or homozygosity for the MTHFR 677C>T variant may have an increased risk of conceiving a child with an imprinting defect, although the absolute risk is low...
  38. ncbi request reprint Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei
    Joachim Rauch
    Kirchhoff Institute of Physics, University of Heidelberg, Im Neuenheimer Feld 227, D 69120 Heidelberg, Germany
    Differentiation 76:66-82. 2008
    ..The possibilities to achieve this goal are discussed...
  39. ncbi request reprint Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
    Paweł Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:442-52. 2006
    ..In silico analysis of breakpoint regions revealed the presence of highly identical low-copy repeats (LCRs) at both breakpoints, potentially involved in generating the translocation...
  40. pmc Maintenance of imprinting and nuclear architecture in cycling cells
    Kathrin Teller
    Department of Biology II, Ludwig Maximilians University, Grosshadernerstrasse 2, 82152 Planegg Martinsried, Germany
    Proc Natl Acad Sci U S A 104:14970-5. 2007
    ....
  41. ncbi request reprint Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome
    Eva Wey
    Institute of Medical Genetics, University of Zurich, Switzerland
    Eur J Hum Genet 13:273-7. 2005
    ..Apart from a rather normal facial appearance, the proband has typical features of PWS...
  42. ncbi request reprint SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
    Maren Runte
    Institut fur Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Hum Genet 114:553-61. 2004
    ..Our findings are compatible with the assumption that imprinted UBE3A expression is regulated through the SNURF-SNRPN sense- UBE3A antisense transcript...
  43. pmc Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
    Karin Buiting
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Hum Genet 72:571-7. 2003
    ..These data suggest that this imprinting defect results from a failure to erase the maternal imprint during spermatogenesis...
  44. ncbi request reprint Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
    Hülya Nazlican
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandtrasse 55, G 45122 Essen, Germany
    Hum Mol Genet 13:2547-55. 2004
    ..In conclusion, we suggest that the role of mosaic imprinting defects in mental retardation is underestimated...
  45. ncbi request reprint Rhythm is not enough
    Bernhard Horsthemke
    Nat Genet 39:1190-1. 2007
  46. pmc Intracytoplasmic sperm injection may increase the risk of imprinting defects
    Gerald F Cox
    Children s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 71:162-4. 2002
    ..We discuss the possibility that ICSI may interfere with the establishment of the maternal imprint in the oocyte or pre-embryo...
  47. ncbi request reprint Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities
    Frank Tschentscher
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Cancer Res 63:2578-84. 2003
    ..Our findings suggest that there are two distinct entities of uveal melanoma that were previously unrecognized because they are not obviously distinguishable by clinicopathological features...
  48. ncbi request reprint Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
    Tobias Vollmar
    Institut fur Humangenetik, Universitat Duisburg Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Med Genet 51:44-53. 2008
    ..Geometry performs excellently with 85% for combined poses. Combination of wavelets and geometry for both poses increases accuracy to 93%. In conclusion, a larger number of syndromes can be handled effectively by means of image analysis...
  49. ncbi request reprint IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 16:328-34. 2008
    ..Furthermore, we show that methylation analysis by QAMA and MLPA is more sensitive in detecting ICR1 hypomethylation than Southern blot analysis of CTS3...
  50. doi request reprint Genomic imprinting and imprinting defects in humans
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Adv Genet 61:225-46. 2008
    ..IC mutations affect the establishment or maintenance of genomic imprints and hence the expression of all imprinted genes controlled by this IC. Imprinting defects play a causal role in several recognizable syndromes...
  51. ncbi request reprint Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation
    Sandrine Gratias
    Department of Human Genetics, University of Duisburg Essen, Essen, Germany
    Int J Cancer 116:555-63. 2005
    ..The genes on 1q with copy number gains and overexpression are candidates that need to be tested for their individual contribution to the progression of Rb...
  52. ncbi request reprint The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor
    Frank J Kaiser
    Institut fur Humangenetik, Universitatsklinikum, Hufelandstrasse 55, D 45122 Essen, Germany
    J Biol Chem 278:38780-5. 2003
    ..Using a luciferase reporter assay, we could demonstrate that the repressional function of TRPS1 is inhibited by RNF4. This finding suggests that RNF4 is a negative regulator of TRPS1 activity...
  53. ncbi request reprint Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
    ..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
  54. ncbi request reprint Problems in detecting mosaic DNA methylation in Angelman syndrome
    Bernhard Horsthemke
    Eur J Hum Genet 11:913-5. 2003
  55. ncbi request reprint Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal
    Frank J Kaiser
    Institut fur Humangenetik, Universitatsklinikum, Hufelandstr 55, Essen D 45122, Germany
    Eur J Hum Genet 12:121-6. 2004
    ..In contrast, a mutant that lacks the conserved GATA-type zinc-finger domain and most of the LRRRRG motif is able to enter the nucleus...
  56. ncbi request reprint Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
    Maren Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany
    Hum Genet 116:228-30. 2005
    ..However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13...
  57. ncbi request reprint Loss of heterozygosity of 1p in uveal melanomas with monosomy 3
    Thomas Häusler
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Int J Cancer 116:909-13. 2005
    ..On the basis of our data and published cytogenetic data, we propose that 1p31 harbors genes involved in the progression of uveal melanoma with monosomy 3...
  58. ncbi request reprint Heritable germline epimutations in humans
    Bernhard Horsthemke
    Nat Genet 39:573-4; author reply 575-6. 2007