Barbara Leube

Summary

Affiliation: Heinrich Heine University
Country: Germany

Publications

  1. ncbi request reprint Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH
    Barbara Leube
    Institute of Human Genetics, University of Duesseldorf, POB 101007, 40001 Duesseldorf, Germany
    Clin Dysmorphol 12:261-5. 2003
  2. ncbi request reprint Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype
    Barbara Leube
    Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany
    Am J Med Genet A 123:296-300. 2003
  3. doi request reprint Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
    Barbara Leube
    Institute of Human Genetics, Heinrich Heine University Duesseldorf, Duesseldorf, Germany
    Genet Test 12:129-33. 2008
  4. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  5. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  6. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:541. 2005
  7. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:537. 2005
  8. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:537. 2005
  9. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  10. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:536. 2005

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH
    Barbara Leube
    Institute of Human Genetics, University of Duesseldorf, POB 101007, 40001 Duesseldorf, Germany
    Clin Dysmorphol 12:261-5. 2003
    ..A review of the literature suggests that the phenotype of our case is related to the 14 qter deletion, without signs of concomitant partial trisomy 9. The case reinforces the value of subtelomeric screening for genetic counselling...
  2. ncbi request reprint Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype
    Barbara Leube
    Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany
    Am J Med Genet A 123:296-300. 2003
    ..Stability under culturing conditions was studied. DNA-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome...
  3. doi request reprint Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
    Barbara Leube
    Institute of Human Genetics, Heinrich Heine University Duesseldorf, Duesseldorf, Germany
    Genet Test 12:129-33. 2008
    ..One family remains undetermined. We found a tendency to a more severe phenotype in EXT1 families. As a novel finding, we could identify a single parameter (ulna/height ratio) that separates EXT1 family from EXT2 family in our series...
  4. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  5. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  6. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:541. 2005
  7. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:537. 2005
  8. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:537. 2005
  9. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:540. 2005
  10. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:536. 2005
  11. ncbi request reprint Clinical outcome and genotype in patients with hereditary multiple exostoses
    Marcus Jager
    Department of Orthopaedics, Heinrich Heine University Hospital Duesseldorf, Moorenstr 5, D 40225 Duesseldorf, Germany
    J Orthop Res 25:1541-51. 2007
    ..c) 2007 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 25:1541-1551, 2007...
  12. 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
    ....
  13. ncbi request reprint Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer
    Barbara Leube
    Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany
    Prostate 50:135-44. 2002
    ..Allele loss of at least two segments in 10q, one mapping to the PTEN gene and one more distal were described in prostate cancer, with loss more frequent in advanced prostate cancer...
  14. doi request reprint DYT7 gene locus for cervical dystonia on chromosome 18p is questionable
    Pia Winter
    Institute of Human Genetics, Justus Liebig University, Giessen, Germany
    Mov Disord 27:1819-21. 2012
    ..A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically...
  15. doi request reprint Evaluation of chromosome 11p imbalances in aniridia and wilms tumor patients
    Maike Busch
    Institute of Human Genetics and Anthropology, Medical Faculty, Heinrich Heine University of Duesseldorf, Duesseldorf, Germany
    Am J Med Genet A 161:958-64. 2013
    ..2013 Wiley Periodicals, Inc...
  16. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers syndrome
    Valerie Schumacher
    University of Duesseldorf, Institute of Human Genetics, Germany
    Hum Genet 116:533. 2005
  17. ncbi request reprint Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
    Daniela Steinberger
    Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
    Neurogenetics 8:51-5. 2007
    ..The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene...