K Zerres

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi request reprint Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 76:137-44. 1998
  2. ncbi request reprint A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    J Neurol Sci 146:67-72. 1997
  3. ncbi request reprint The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III
    S Rudnik-Schoneborn
    Institute for Human Genetics, Technical University of Aachen, Germany
    Eur Neurol 45:174-81. 2001
  4. ncbi request reprint Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Eur Neurol 39:154-62. 1998
  5. doi request reprint Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype
    S Rudnik-Schoneborn
    Institute for Human Genetics, University Hospital, RWTH Aachen, 52074 Aachen, Germany
    Neuromuscul Disord 18:881-5. 2008
  6. ncbi request reprint Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 80:314-21. 1998
  7. ncbi request reprint Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA
    C A Hübner
    Institute for Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Neuroscience 132:697-701. 2005
  8. ncbi request reprint Increased risk for abnormal placentation in women affected by myotonic dystrophy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    J Perinat Med 26:192-5. 1998
  9. ncbi request reprint Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
    S Rudnik-Schoneborn
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    Neuropediatrics 35:174-82. 2004
  10. 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

Collaborators

Detail Information

Publications35

  1. ncbi request reprint Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 76:137-44. 1998
    ..These results show that haplotype-based prenatal testing is feasible and reliable in pregnancies "at risk" for ARPKD. An absolute prerequisite for these studies is an accurate diagnosis of ARPKD in previously affected sib(s)...
  2. ncbi request reprint A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
    K Zerres
    Institute for Human Genetics, University of Bonn, Germany
    J Neurol Sci 146:67-72. 1997
    ..The data provide a reliable basis of the natural history of proximal SMA and support a classification system that is based primarily on age at onset and the achievement of motor milestones...
  3. ncbi request reprint The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III
    S Rudnik-Schoneborn
    Institute for Human Genetics, Technical University of Aachen, Germany
    Eur Neurol 45:174-81. 2001
    ....
  4. ncbi request reprint Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Eur Neurol 39:154-62. 1998
    ..There was no sex influence in SMA I, II and IIIa. The observed higher male values in the group SMA IIIb are most likely the result of a lack of female patients with onset after puberty...
  5. doi request reprint Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype
    S Rudnik-Schoneborn
    Institute for Human Genetics, University Hospital, RWTH Aachen, 52074 Aachen, Germany
    Neuromuscul Disord 18:881-5. 2008
    ..Eventually, a donor splice site mutation (c.4071+1 G>T) was found by direct sequencing of the dystrophin gene in the patient and his mother and confirmed the diagnosis of Becker's muscular dystrophy along with FSHD...
  6. ncbi request reprint Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Am J Med Genet 80:314-21. 1998
    ..With the exception of three patients, most new mothers were able to care for their families. To conclude, pregnant women with DM need constant obstetric monitoring and should be advised to deliver in centres with perinatal facilities...
  7. ncbi request reprint Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA
    C A Hübner
    Institute for Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Neuroscience 132:697-701. 2005
    ..Remarkably, residual wild-type splicing was also detected in the patient's cultured fibroblasts. This might explain the mild phenotype in this case, as exon 6 skipping mutations resulted in a severe course of disease in other patients...
  8. ncbi request reprint Increased risk for abnormal placentation in women affected by myotonic dystrophy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    J Perinat Med 26:192-5. 1998
    ..As involvement of the genitourinary tract is common in myotonic dystrophy, an increased risk for placenta praevia has to be considered in the antenatal care of these patients...
  9. ncbi request reprint Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
    S Rudnik-Schoneborn
    Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
    Neuropediatrics 35:174-82. 2004
    ..However, neurogenic atrophy muscle was more pronounced in distal muscles, if examined, and there was evidence of peripheral nerve involvement at least in some patients...
  10. 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...
  11. ncbi request reprint Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure
    F Haverkamp
    Department of Pediatrics, University of Bonn, Germany
    J Clin Endocrinol Metab 84:4578-82. 1999
    ..Furthermore, consideration of patient height in relation to MPH should lead to a better understanding of the nature of GR in TS than the commonly used, strictly qualitative definition of SST...
  12. ncbi request reprint Outcome and effect of pregnancy in myotonic dystrophy type 2
    S Rudnik-Schoneborn
    Institute for Human Genetics, RWTH Aachen University, Aachen, Germany
    Neurology 66:579-80. 2006
    ..Of 96 pregnancies, 13% ended as early and 4% as late miscarriages. Preterm labor occurred in 50% of pregnancies resulting in 27% preterm deliveries in women with overt DM2 in pregnancy. There was no evidence of a congenital DM2...
  13. ncbi request reprint Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
    Y Hofmann
    Institute for Human Genetics, University of Bonn, Germany
    Eur J Hum Genet 8:163-6. 2000
    ..Although neither marker was informative in these individuals, they are the closest yet described for PKHD1 and may help to refine the candidate region...
  14. ncbi request reprint Clinical features of unilateral multicystic renal dysplasia in children
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Eur J Pediatr 157:666-72. 1998
    ....
  15. ncbi request reprint Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology Aachen, Germany
    Neurology 60:983-7. 2003
    ..Other organ malformations or peripheral nerve involvement have been regarded as exclusion criteria for infantile SMA. Whether SMN protein deficiency can also lead to loss of sensory neurons has not been systematically addressed...
  16. ncbi request reprint ADULT syndrome allelic to limb mammary syndrome (LMS)?
    P Propping
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet 90:179-82. 2000
    ..82 at straight theta = 0.00 with marker D3S1288. Our results place the ADULT locus to the same chromosomal region where LMS was mapped, suggesting that these two conditions are allelic...
  17. ncbi request reprint Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12
    G Mücher
    Institut fur Humangenetik, Universitat Bonn, Germany
    Genomics 48:40-5. 1998
    ..These genetic data, combined with our YAC-based physical map of the 6p21-p12 region, will facilitate efforts to positionally clone the PKHD1 gene...
  18. ncbi request reprint Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
    K Zerres
    Institut für Humangenetik der Universität Bonn, Germany
    Nat Genet 7:429-32. 1994
    ..42 was obtained with D6S272 at theta = 0.00. Our findings should lead to more accurate forms of prenatal diagnosis than those currently available using ultrasound...
  19. 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...
  20. ncbi request reprint Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9
    T Eggermann
    Clin Genet 71:597-8. 2007
  21. pmc Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
    C Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Am J Hum Genet 79:1105-9. 2006
    ..To the best of our knowledge, this is the first gene known to be responsible for an isolated, nonsyndromic nail disorder...
  22. pmc Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome
    N Eter
    Br J Ophthalmol 90:1206-7. 2006
  23. pmc Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta
    M Moser
    Institute for Pathology, University of Regensburg Medical School, Germany
    Genes Dev 11:1938-48. 1997
    ..Sequence analyses of ARPKD patients and linkage analyses using intragenic polymorphic markers indicate that the AP-2beta gene is located in close proximity to but distinct from the ARPKD gene...
  24. pmc Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
    C Bergmann
    Department of Human Genetics, Aachen University, Germany
    J Med Genet 42:e63. 2005
    ..So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations...
  25. pmc Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
    B Peral
    MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, Headington, United Kingdom
    Am J Hum Genet 60:1399-410. 1997
    ..RT-PCR/PTT proved to be a rapid and efficient method to detect PKD1 mutations (differentiating pathogenic changes from polymorphisms), and we recommend this procedure as a firstpass mutation screen in this disorder...
  26. ncbi request reprint Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter
    T Eggermann
    Clin Genet 67:434-7. 2005
  27. ncbi request reprint No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria
    C Schmidt
    Clin Nephrol 62:71-3. 2004
  28. ncbi request reprint Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
    J M Scharf
    Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 20:83-6. 1998
    ....
  29. ncbi request reprint Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
    E Hahnen
    Institute of Human Genetics, Bonn, Germany
    Hum Mol Genet 6:821-5. 1997
    ..Missense mutations might be useful for in vivo and transgenic experiments and further investigations on understanding the function of the telSMN protein...
  30. ncbi request reprint [Pathology and genetic hereditary kidney cysts]
    B Hermanns
    Institut fur Pathologie, Universitätsklinikum der RWTH Aachen
    Pathologe 24:410-20. 2003
    ..For clinical use the mode of inheritance (autosomal dominant and autosomal recessive) is used to differentiate hereditary polycystic kidney diseases...
  31. 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...
  32. ncbi request reprint Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene
    L F Onuchic
    Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
    Mamm Genome 10:1175-8. 1999
  33. ncbi request reprint Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney disease
    L F Onuchic
    Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Mamm Genome 6:805-8. 1995
    ..1. The polymorphisms found in the htG737 gene will permit its future evaluation as a candidate gene for other recessive cystic renal diseases and as a modifier gene in human PKD...
  34. ncbi request reprint Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
    K Grohmann
    Department of Neuropediatrics, Charite, Campus Virchow Klinikum, Humboldt University, 13353 Berlin, Germany
    Nat Genet 29:75-7. 2001
    ..Our results show that IGHMBP2 is the second gene found to be defective in spinal muscular atrophy, and indicate that IGHMBP2 and SMN share common functions important for motor neuron maintenance and integrity in mammals...
  35. 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