Sabine Rudnik-Schoneborn

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. doi request reprint SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, RWTH Aachen, Germany
    Neuromuscul Disord 22:258-62. 2012
  2. pmc Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
    Matthis Synofzik
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str, 3, Tubingen, 72076, Germany
    Orphanet J Rare Dis 8:41. 2013
  3. pmc Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, University Hospital Aachen, Germany
    Neurology 80:438-46. 2013
  4. 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
  5. 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
  6. ncbi request reprint Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, University Clinic, University of Technology, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Neuromuscul Disord 15:45-7. 2005
  7. ncbi request reprint Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, Aachen University, Aachen, Germany
    Am J Med Genet A 117:10-7. 2003
  8. 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
  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 Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology, RWTH Aachen, Germany
    Eur J Obstet Gynecol Reprod Biol 114:44-53. 2004

Detail Information

Publications58

  1. doi request reprint SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, RWTH Aachen, Germany
    Neuromuscul Disord 22:258-62. 2012
    ..Altogether these results expand the phenotype associated with SETX mutations supporting the notion that patients with ADSMA should be investigated for SETX mutations...
  2. pmc Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
    Matthis Synofzik
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str, 3, Tubingen, 72076, Germany
    Orphanet J Rare Dis 8:41. 2013
    ..Here we aimed to enlarge the spectrum of SACS mutations outside Quebec, to establish the pathogenicity of novel variants, and to expand the clinical and imaging phenotype...
  3. pmc Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, University Hospital Aachen, Germany
    Neurology 80:438-46. 2013
    ..We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation...
  4. 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...
  5. 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...
  6. ncbi request reprint Alveolar rhabdomyosarcoma in infantile spinal muscular atrophy: coincidence or predisposition?
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, University Clinic, University of Technology, RWTH Aachen, Pauwelsstr 30, 52074 Aachen, Germany
    Neuromuscul Disord 15:45-7. 2005
    ....
  7. ncbi request reprint Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, Aachen University, Aachen, Germany
    Am J Med Genet A 117:10-7. 2003
    ..The genetic basis of PCH-1 remains to be determined. The gene locus for infantile SMA on chromosome 5q could be excluded by linkage studies. Parental consanguinity and affected siblings make autosomal recessive inheritance most likely...
  8. 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...
  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 Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, University of Technology, RWTH Aachen, Germany
    Eur J Obstet Gynecol Reprod Biol 114:44-53. 2004
    ..Myotonic dystrophy can be associated with increased obstetric risks, but the maternal contribution for gestational outcome is difficult to establish considering the varying degrees of severity and the influence of fetal factors...
  11. doi request reprint A new case of proximal monosomy 1p36, extending the phenotype
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, University Hospital RWTH Aachen, Aachen, Germany
    Am J Med Genet A 146:2018-22. 2008
  12. 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...
  13. doi request reprint Digital necroses and vascular thrombosis in severe spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Muscle Nerve 42:144-7. 2010
    ..Corresponding to a mouse model and other patients with similar findings, we believe that severe survival motor neuron (SMN) deficiency may present as vasculopathy...
  14. 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...
  15. doi request reprint Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene
    S Rudnik-Schoneborn
    Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Neuropediatrics 40:129-33. 2009
    ..1616G>A (p.G539D) and a paternal splice mutation c.1118+1G>A in both siblings. We hypothesize that mutations of the KCC3 gene may result in non-syndromic childhood onset HMSN...
  16. 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
    ....
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. ncbi request reprint Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Germany
    Brain 126:642-9. 2003
    ..These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties...
  23. 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...
  24. ncbi request reprint Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
    Claudia Helmken
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Hum Genet 114:11-21. 2003
    ..Further insights into the molecular pathway and the identification of SMA modifying gene(s) may help to find additional targets for a therapy approach...
  25. 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...
  26. 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...
  27. ncbi request reprint Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Hum Mol Genet 12:349-56. 2003
    ....
  28. pmc Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Am J Hum Genet 64:1340-56. 1999
    ..We determined the validity of the test, and we discuss its practical implications and limitations...
  29. doi request reprint SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome
    Michael Krieger
    1 Institute of Human Genetics, Rheinisch Westfälische Technische Hochschule RWTH Aachen University, 52074 Aachen, Germany
    Brain 136:3634-44. 2013
    ..Based on SIL1 expression studies we speculate that this may arise from a uniform effect of different mutations on protein expression. ..
  30. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    ..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes...
  31. ncbi request reprint An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
    C Helmken
    Institute of Human Genetics, Bonn, Germany
    Eur J Hum Genet 8:493-9. 2000
    ..No difference in expression level of the five isoforms among phenotypically variable sibs was observed. Based on these data, we suggest that neither the phenotypic variability nor the 5q-unlinked SMA are caused by mutations within SIP1...
  32. ncbi request reprint Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)
    Carsten Bergmann
    Institute of Human Genetics, Aachen University of Technology, Germany
    Am J Med Genet A 121:151-5. 2003
    ..The present case was instructive to review the continuous spectrum of AMDC related anomalies...
  33. 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...
  34. ncbi request reprint Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues
    S Rudnik-Schoneborn
    Institute for Human Genetics, University of Bonn, Germany
    Clin Genet 52:126-9. 1997
    ..The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes...
  35. pmc De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Bonn, Germany
    Am J Hum Genet 61:1102-11. 1997
    ..These findings have important implications for genetic counseling and prenatal diagnosis in that they emphasize the relevance of indirect genotype analysis in combination with direct SMN-gene deletion testing in SMA families...
  36. ncbi request reprint 93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands)
    Klaus Zerres
    Institute for Human Genetics, University of Technology, Pauwelsstrasse 30, D 52074, Aachen, Germany
    Neuromuscul Disord 13:179-83. 2003
  37. doi request reprint Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype
    Miriam Elbracht
    Medical Faculty, Institute of Human Genetics, University Hospital, RWTH Aachen University, Aachen, Germany
    Am J Med Genet A 149:2547-50. 2009
    ..Contrary to patients with duplications proximal to 2q33, the children with pure trisomy distal to 2q35 have normal or increased body measurements and show no major malformations. Moderate psychomotor delay was a constant finding...
  38. ncbi request reprint Different entities of proximal spinal muscular atrophy within one family
    B Wirth
    Institute of Human Genetics, Bonn, Germany
    Hum Genet 100:676-80. 1997
    ....
  39. ncbi request reprint Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, Technical University of Aachen, Aachen, Germany
    Neuromuscul Disord 12:137-40. 2002
    ..Blood gases after midgestation revealed low normal PaO(2) values around 85 mmHg and concomitant hyperventilation resulting in PaCO(2) levels below 30 mmHg...
  40. ncbi request reprint Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Kidney Int 67:829-48. 2005
    ..Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived...
  41. doi request reprint Recurrence risks of hypertensive diseases in pregnancy after HELLP syndrome
    Brigitte Leeners
    Department of Obstetrics and Gynecology, Aachen University RWTH, Aachen, Germany
    J Perinat Med 39:673-8. 2011
    ..To determine the recurrence risk for hypertensive diseases in pregnancy after HELLP (Hemolysis Elevated Liver enzymes and Low Platelets) syndrome in a first pregnancy...
  42. 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...
  43. 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...
  44. 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
    ....
  45. 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
    ....
  46. doi request reprint Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients
    Carina Awater
    Institute of Human Genetics, Medical Faculty, RWTH Aachen, Germany
    Eur J Obstet Gynecol Reprod Biol 162:153-9. 2012
    ..Further data of obstetric histories in clinically and genetically defined subgroups are required...
  47. doi request reprint A phenotype map for 14q32.3 terminal deletions
    Hartmut Engels
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 158:695-706. 2012
    ....
  48. 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...
  49. ncbi request reprint Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005
    ..Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders...
  50. 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...
  51. 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...
  52. doi request reprint Genes and the preeclampsia syndrome
    Sabine Mütze
    Department of Obstetrics and Gynecology, Aachen University RWTH, Aachen, Germany
    J Perinat Med 36:38-58. 2008
    ..Moreover, the influence of maternal and fetal genes and their interaction as well as the role of genomic imprinting in preeclampsia will be discussed...
  53. doi request reprint Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy
    Kay W Nolte
    Institute of Neuropathology, RWTH Aachen University, Aachen, Germany
    Neuropathology 33:59-67. 2013
    ..During early disease stages, brain histopathology may be misleading, showing reactive inflammatory changes...
  54. 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...
  55. 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)...
  56. 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...
  57. 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...
  58. ncbi request reprint A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany
    C Bergmann
    Institut fur Humangenetik, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Brain Res Mol Brain Res 88:183-5. 2001
    ..These divergent results are important for genetic counselling and require careful consideration of ethnic backgrounds and of diagnostic and experimental pitfalls...