H Kehrer-Sawatzki

Summary

Affiliation: University of Ulm
Country: Germany

Publications

  1. pmc Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Am J Hum Genet 71:375-88. 2002
  2. pmc Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions
    Tanja Mußotter
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee, Ulm, Germany
    BMC Med Genet 13:98. 2012
  3. pmc Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports
    Julia Vogt
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    J Med Case Rep 5:577. 2011
  4. doi request reprint Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions
    Hildegard Kehrer-Sawatzki
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Neurogenetics 13:229-36. 2012
  5. pmc Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution
    Claus Kemkemer
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    BMC Evol Biol 9:84. 2009
  6. doi request reprint Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
    H Kehrer-Sawatzki
    Dr H Kehrer Sawatzki, Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    J Med Genet 45:622-31. 2008
  7. doi request reprint Comparative analysis of copy number variation in primate genomes
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Cytogenet Genome Res 123:288-96. 2008
  8. doi request reprint Molecular mechanisms of chromosomal rearrangement during primate evolution
    Hildegard Kehrer-Sawatzki
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Chromosome Res 16:41-56. 2008
  9. doi request reprint Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Am J Med Genet A 146:691-9. 2008
  10. ncbi request reprint Structural divergence between the human and chimpanzee genomes
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Hum Genet 120:759-78. 2007

Detail Information

Publications62

  1. pmc Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Am J Hum Genet 71:375-88. 2002
    ..3) and GUC2D and ALOX15B (on human chromosome 17p13). The inversion affects neither the genomic structure nor the gene-activity state with regard to replication timing of these genes...
  2. pmc Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions
    Tanja Mußotter
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee, Ulm, Germany
    BMC Med Genet 13:98. 2012
    ..ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing...
  3. pmc Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports
    Julia Vogt
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    J Med Case Rep 5:577. 2011
    ..abstract:..
  4. doi request reprint Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions
    Hildegard Kehrer-Sawatzki
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Neurogenetics 13:229-36. 2012
    ..We conclude that patients with mosaic type-2 NF1 microdeletions may also be at an increased risk of MPNSTs despite their generally milder disease manifestations as compared with germline type-1 NF1 microdeletions...
  5. pmc Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution
    Claus Kemkemer
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    BMC Evol Biol 9:84. 2009
    ..Gene synteny analysis (E-painting) not only greatly reduces the complexity of comparative genome sequence analysis but also extends its evolutionary reach...
  6. doi request reprint Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
    H Kehrer-Sawatzki
    Dr H Kehrer Sawatzki, Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    J Med Genet 45:622-31. 2008
    ....
  7. doi request reprint Comparative analysis of copy number variation in primate genomes
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Cytogenet Genome Res 123:288-96. 2008
    ....
  8. doi request reprint Molecular mechanisms of chromosomal rearrangement during primate evolution
    Hildegard Kehrer-Sawatzki
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Chromosome Res 16:41-56. 2008
    ....
  9. doi request reprint Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Am J Med Genet A 146:691-9. 2008
    ..4 Mb interval do not identify a specific deleted region that is associated with increased neurofibroma growth...
  10. ncbi request reprint Structural divergence between the human and chimpanzee genomes
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Hum Genet 120:759-78. 2007
    ....
  11. ncbi request reprint Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Hum Mutat 28:99-130. 2007
    ..Here, we review recent progress in comparing the human and chimpanzee genomes and discuss how the differences detected have improved our understanding of the evolution of the human genome...
  12. ncbi request reprint What a difference copy number variation makes
    Hildegard Kehrer-Sawatzki
    Institute of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Bioessays 29:311-3. 2007
    ..However, some CNVs are already amenable to genome-wide association studies so that their influence on human phenotypic diversity and disease susceptibility may soon be determined...
  13. pmc High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 75:410-23. 2004
    ..Thus, NF1 microdeletions acquired during mitotic cell divisions differ from those occurring in meiosis and are caused by different mechanisms...
  14. ncbi request reprint Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes
    H Kehrer-Sawatzki
    Abteilung Humangenetik, Universitat Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
    Gene 222:145-53. 1998
    ..This suggests that the human EVI2B gene and the Fugu gene in intron 27b have a common ancestor. We found the expression of this inserted gene in liver and kidney, but not in brain tissue of Fugu rubripes...
  15. ncbi request reprint Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Germany
    Cytogenet Genome Res 108:91-7. 2005
    ..These findings coincide with the trend observed in hominoid karyotype evolution that humans have a karyotype close to an ancestral one, while African great apes present with more derived chromosome arrangements...
  16. ncbi request reprint Characterization of three genes, AKAP84, BAW and WSB1, located 3' to the neurofibromatosis type 1 locus in Fugu rubripes
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
    Gene 235:1-11. 1999
    ..A higher overall similarity of deduced protein sequences between Fugu and mouse was observed comparing the BAW gene products (74.1%) and the WSB1 proteins (77.2%)...
  17. ncbi request reprint Chromosomal speciation of humans and chimpanzees revisited: studies of DNA divergence within inverted regions
    J M Szamalek
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Cytogenet Genome Res 116:53-60. 2007
    ..The precise delineation of the inversion breakpoints may nevertheless still prove helpful in identifying potential speciation-relevant genes within the inverted regions...
  18. doi request reprint Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes
    Jessica Kolb
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Chromosome Res 17:469-83. 2009
    ....
  19. ncbi request reprint Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken
    M Kohn
    Institut fur Humangenetik, Universitat Ulm, Ulm, Germany
    Cytogenet Genome Res 116:173-80. 2007
    ..Also in the testes, specific expression was only found in mouse, not in chicken. These data are interpreted such that certain genes on the X chromosome gained novel functions during evolution...
  20. ncbi request reprint Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Germany
    Gene 251:63-71. 2000
    ..The characterization of the 5' flanking region presented here, together with that of the 3' region, demonstrates the profound differences between Fugu and human considering the gene content within the region flanking the NF1 gene...
  21. ncbi request reprint Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
    H Kehrer-Sawatzki
    Abteilung Humangenetik, Ulm, Germany
    Hum Genet 100:67-74. 1997
    ..The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient...
  22. doi request reprint A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2
    Kathrin Bengesser
    Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany
    Hum Mutat 31:742-51. 2010
    ..31 microdeletions and reciprocal microduplications. The novel NF1 microdeletions reported here provide further evidence for the unusually high recombinogenic potential of LRRC37-containing LCRs in the human genome...
  23. ncbi request reprint A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?
    U Zechner
    Dept Internal Medicine I, University Ulm, D 89081, Ulm, Germany
    Trends Genet 17:697-701. 2001
    ..We discuss these conclusions with regard to the conservation of the vertebrate X-chromosomal linkage group and to human evolution...
  24. ncbi request reprint Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric d
    G Barbi
    Abteilung Humangenetik, Universitatsklinikum Ulm, Ulm, Germany
    Am J Med Genet A 132:419-24. 2005
    ..These observations suggest a multi-step origin of the marker most probably with ring formation as the first step...
  25. doi request reprint Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas
    Katharina Steinmann
    Institute of Human Genetics, University of Ulm, Germany
    J Invest Dermatol 129:615-21. 2009
    ..To our knowledge, mitotic recombination has not previously been reported to be a frequent cause of LOH in plexiform neurofibromas...
  26. doi request reprint Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?
    Angelika C Roehl
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Hum Mutat 31:325-34. 2010
    ..012) in the type-2 deletion patients compared with controls. We postulate that roh1 may act remotely, via an as yet unknown mechanism, to increase the frequency of somatic recombination between the distally duplicated SUZ12 sequences...
  27. ncbi request reprint Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Germany
    Prenat Diagn 25:954-9. 2005
    ..2-q26.1. The majority of distal 10q deletions are pure terminal deletions with breakpoints in 10q25 and 10q26. Only four patients have been described so far with interstitial deletions involving bands 10q25.2-q26.1...
  28. ncbi request reprint Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Genomics 85:542-50. 2005
    ..In addition to this pericentric inversion of PTR 11, further events like centromere repositioning or a second smaller inversion must be assumed to explain the structure of PTR 11 compared with HSA 9...
  29. ncbi request reprint Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
    Hum Genet 116:466-75. 2005
    ..This demonstrates the value of whole-body MRI scanning in determining the total tumor load, which is an important aspect in genotype/phenotype correlations with regard to large NF1 deletions...
  30. ncbi request reprint Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Acta Neuropathol 104:231-40. 2002
    ..These findings provide evidence of differential Krit1 and Rap1A expression during mouse ontogenesis and suggest a more widespread functional significance of Krit1, not restricted to vascular endothelial cells...
  31. ncbi request reprint Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)
    Hildegard Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Hum Mutat 25:45-55. 2005
    ..These findings imply that genomic architecture, and specifically high-copy repetitive elements, may have made a significant contribution to hominoid karyotype evolution, predisposing specific genomic regions to rearrangements...
  32. ncbi request reprint A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
    H Kehrer-Sawatzki
    Abteilung Humangenetik, Universitat Ulm, Germany
    Hum Genet 100:595-600. 1997
    ..Our findings further support pericentromeric spreading of partial NF1 gene copies at chromosome 15q11.2 during evolution...
  33. ncbi request reprint Monosomy 6 in human cultured fibroblast-like cells after long-term stimulation with acidic fibroblast growth factor (FGF1)
    W Krone
    Abteilung Humangenetik, Universitat Ulm, Germany
    Cytogenet Cell Genet 78:96-102. 1997
    ..A selective advantage for such monosomic cells is the most likely explanation for their steady increase during serial culture...
  34. pmc Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region
    H Kehrer-Sawatzki
    Department of Human Genetics, University of Ulm, Ulm, Germany
    J Med Genet 40:e116. 2003
  35. doi request reprint Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages
    Claus Kemkemer
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Chromosome Res 17:811-20. 2009
    ....
  36. ncbi request reprint Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations
    B Glaser
    Institute of Human Genetics, Gottingen, Germany
    Am J Med Genet A 126:229-36. 2004
    ..3, or RBM10) in the breakpoint region on the X chromosome is not well tolerated and leads to the selection of cells with an active non-rearranged X chromosome...
  37. pmc Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
    Katharina Steinmann
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Am J Hum Genet 81:1201-20. 2007
    ..Although an influence of chromatin structure was strongly suspected, no sex-specific differences in the methylation pattern exhibited by the SUZ12 gene were apparent that could explain the higher rate of mitotic recombination in females...
  38. ncbi request reprint Localization of human X chromosomal mental retardation (MRX) genes in chicken and comparison with the chicken genome sequence data
    M Kohn
    Department of Human Genetics, University Ulm, Ulm, Germany
    Cytogenet Genome Res 108:342-7. 2005
    ..This result supports the hypothesis that the human X chromosome is a real ancient autosomal linkage group...
  39. ncbi request reprint Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis
    Matthias Kohn
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, D 89081 Ulm, Germany
    Gene Expr Patterns 3:173-7. 2003
    ..For Rsk4 ubiquitous expression at lower levels was observed throughout development...
  40. doi request reprint Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
    Katharina Steinmann
    Institute of Human Genetics, University of Ulm, Ulm, Germany
    Eur J Hum Genet 16:572-80. 2008
    ..This duplication could have occurred concomitantly with the deletion as part of a complex rearrangement or may alternatively have preceded the deletion...
  41. ncbi request reprint Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse
    Dieter E Jenne
    Department of Neuroimmunology, Max Planck Institute of Neurobiology, Martinsried, Germany
    Genes Chromosomes Cancer 37:111-20. 2003
    ....
  42. ncbi request reprint Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies
    Birgitta Gläser
    Department of Human Genetics, University of Ulm, Ulm, Germany
    Am J Med Genet A 116:66-70. 2003
    ..The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p...
  43. ncbi request reprint Evolutionary and biomedical insights from the rhesus macaque genome
    Richard A Gibbs
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
    Science 316:222-34. 2007
    ..The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species...
  44. ncbi request reprint Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome
    Violaine Goidts
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081, Ulm, Germany
    Hum Genet 120:270-84. 2006
    ....
  45. ncbi request reprint Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates
    Violaine Goidts
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Hum Genet 115:116-22. 2004
    ..The assignment of the breakpoint region to a segmental duplication underlines the significance of the genomic architecture in the context of genome and karyotype evolution in hominoids...
  46. ncbi request reprint Wide genome comparisons reveal the origins of the human X chromosome
    Matthias Kohn
    Department of Human Genetics, University of Ulm, D 89070 Ulm, Germany
    Trends Genet 20:598-603. 2004
    ..This enables surprising new insights into the origins of the mammalian X chromosome...
  47. ncbi request reprint Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome
    Justyna M Szamalek
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Hum Genet 117:168-76. 2005
    ....
  48. pmc Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
    Violaine Goidts
    Department of Human Genetics, University of Ulm, 89081 Ulm, Germany
    Genome Res 15:1232-42. 2005
    ..Thus, the most parsimonious interpretation is that the gorilla and chimpanzee homologs exhibit similar but nonidentical derived pericentric inversions, whereas HSA 16 represents the ancestral form among hominoids...
  49. ncbi request reprint The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus
    Justyna M Szamalek
    Department of Human Genetics, University of Ulm, 89069 Ulm, Germany
    Genomics 87:39-45. 2006
    ..According to the chromosomal speciation theory the inversions themselves could have promoted human speciation...
  50. ncbi request reprint Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees
    Justyna M Szamalek
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Hum Genet 119:103-12. 2006
    ..It is concluded that micro-inversions make a significant contribution to genomic variability in both humans and chimpanzees and inversion polymorphisms may be more frequent than previously realized...
  51. ncbi request reprint Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
    Violaine Goidts
    Department of Human Genetics, University of Ulm, Albert Einstein Allee, 11, 89081 Ulm, Germany
    Hum Genet 119:185-98. 2006
    ..The association of human-specific copy number gains with chromosomal breakpoints emphasizes their potential importance in mediating karyotypic evolution as well as in promoting human genomic diversity...
  52. ncbi request reprint Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
    Sylwia Chocholska
    Abteilung Humangenetik, Universitat Ulm, Ulm, Germany
    Am J Med Genet A 140:604-10. 2006
    ..Thus, the overall X inactivation pattern and inter-individual expression variability of the genes in distal Xp might be determinants of the phenotype associated with the deletion...
  53. ncbi request reprint Reconstruction of a 450-My-old ancestral vertebrate protokaryotype
    Matthias Kohn
    Department of Human Genetics, University of Ulm, D 89070 Ulm, Germany
    Trends Genet 22:203-10. 2006
    ..Although the human karyotype is one of the most conserved in eutherians, it can no longer be considered highly conserved from a vertebrate-wide perspective...
  54. ncbi request reprint Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes
    Justyna M Szamalek
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89081 Ulm, Germany
    Hum Genet 120:126-38. 2006
    ....
  55. ncbi request reprint Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion
    Thomas De Raedt
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Nat Genet 38:1419-23. 2006
    ..This apparent conservation of patterns of recombination hotspots in moderately diverged paralogous regions contrasts with recent evidence that these patterns are not conserved in less-diverged orthologous regions of chimpanzees...
  56. ncbi request reprint Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting)
    Claus Kemkemer
    Institute of Human Genetics, University Ulm, Albert Einstein Allee 11, 89070 Ulm, Germany
    Chromosome Res 14:899-907. 2006
    ..From there on 66 further interchromosomal rearrangements took place in the lineage leading to cattle and 61 further interchromosomal rearrangements in the lineage to dog...
  57. ncbi request reprint Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply
    Hildegard Kehrer-Sawatzki
    Hum Genet 113:188-90. 2003
  58. ncbi request reprint Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation
    Katharina Wimmer
    Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Austria
    Pediatr Res 58:1265-8. 2005
    ..Molecular genetic testing identified a novel NF1 mutation and, thus, enabled a confident NF1 diagnosis despite the unusual phenotypical presentation in this patient...
  59. ncbi request reprint A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases
    Matthias Kohn
    Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, Ulm 89081, Germany
    Eur J Hum Genet 12:29-37. 2004
    ....
  60. ncbi request reprint Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication
    Hildegard Kehrer-Sawatzki
    Hum Genet 111:465-7; author reply 468-9. 2002
    ..2 as had been previously postulated. Rather, our findings suggest that there is one NF1 gene in the 17q11.2 region...
  61. ncbi request reprint Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
    Lan Kluwe
    Laboratory for Tumor Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg Eppendorf, Hamburg, Germany
    Hum Mutat 23:111-6. 2004
    ..4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes...
  62. ncbi request reprint Childhood overgrowth in patients with common NF1 microdeletions
    Miriam Spiegel
    Institut fur Medizinische Genetik, Charite, Humboldt Universitat, Berlin, Germany
    Eur J Hum Genet 13:883-8. 2005
    ..4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth...