U Hehr

Summary

Country: Germany

Publications

  1. ncbi Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
    G Uyanik
    Department of Neurology, University of Regensburg, Germany
    Neurology 66:1044-8. 2006
  2. ncbi Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
    Ute Hehr
    Centre for Gynaecological Endocrinology, Reproductive Medicine and Human Genetics, Hemauerstrasse 1, 93047 Regensburg, Germany
    Eur J Pediatr 163:347-52. 2004
  3. ncbi Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
    Ute Hehr
    Center for Human Genetics, Franz Josef Strauss Allee 11, Universitätsklinikum D3, 93053 Regensburg, Germany
    Hum Genet 127:555-61. 2010
  4. ncbi Genetic assessment of cortical malformations
    U Hehr
    Center for and Department of Human Genetics, University of Regensburg, Germany
    Neuropediatrics 42:43-50. 2011
  5. ncbi Location and type of mutation in the LIS1 gene do not predict phenotypic severity
    G Uyanik
    Department of Neurology, University of Regensburg, Regensburg, Germany
    Neurology 69:442-7. 2007
  6. ncbi ARX mutations in X-linked lissencephaly with abnormal genitalia
    G Uyanik
    Department of Neurology, University of Regensburg, Germany
    Neurology 61:232-5. 2003

Collaborators

  • S Spranger
  • L Aigner
  • J Kohlhase
  • M Meng
  • E Mangold
  • G Uyanik
  • J Winkler
  • C Gross
  • U Bogdahn
  • P Martin
  • B Schulze
  • Y Berman
  • G Wolff
  • J Seidel
  • G Helland
  • U Schara
  • G Schuierer
  • T E Neumann
  • C Hertzberg
  • A Hehr
  • G Buyse
  • P Burkart
  • M L Wright
  • H Holthausen
  • D Muller
  • I Schreyer
  • G C Korenke
  • C Spaich
  • L Ades
  • J Stiegler
  • S Kortge-Jung
  • J Klapecki
  • P Meinecke
  • D J Morris-Rosendahl
  • L Dey
  • C Zeschnigk
  • H Topaloglu
  • B Winner
  • N Elcioglu
  • E Demir
  • D Wahl
  • K Scheglmann
  • A Olmez
  • J Penzien
  • Y Yilmaz
  • H Marschner-Schäfer
  • D Neumann

Detail Information

Publications6

  1. ncbi Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
    G Uyanik
    Department of Neurology, University of Regensburg, Germany
    Neurology 66:1044-8. 2006
    ..The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome...
  2. ncbi Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
    Ute Hehr
    Centre for Gynaecological Endocrinology, Reproductive Medicine and Human Genetics, Hemauerstrasse 1, 93047 Regensburg, Germany
    Eur J Pediatr 163:347-52. 2004
    ....
  3. ncbi Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
    Ute Hehr
    Center for Human Genetics, Franz Josef Strauss Allee 11, Universitätsklinikum D3, 93053 Regensburg, Germany
    Hum Genet 127:555-61. 2010
    ....
  4. ncbi Genetic assessment of cortical malformations
    U Hehr
    Center for and Department of Human Genetics, University of Regensburg, Germany
    Neuropediatrics 42:43-50. 2011
    ....
  5. ncbi Location and type of mutation in the LIS1 gene do not predict phenotypic severity
    G Uyanik
    Department of Neurology, University of Regensburg, Regensburg, Germany
    Neurology 69:442-7. 2007
    ..Type 1 lissencephaly is mostly associated with a heterozygous deletion of the entire LIS1 gene, whereas intragenic heterozygous LIS1 mutations or hemizygous DCX mutations in males are less common...
  6. ncbi ARX mutations in X-linked lissencephaly with abnormal genitalia
    G Uyanik
    Department of Neurology, University of Regensburg, Germany
    Neurology 61:232-5. 2003
    ....