U Hehr

Summary

Country: Germany

Publications

  1. ncbi request reprint 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. pmc Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Claudia Voigt
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Orphanet J Rare Dis 8:110. 2013
  3. ncbi request reprint 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
  4. doi request reprint 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
  5. doi request reprint Genetic assessment of cortical malformations
    U Hehr
    Center for and Department of Human Genetics, University of Regensburg, Germany
    Neuropediatrics 42:43-50. 2011
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  • Maximilian Muenke
  • J Kohlhase
  • M Meng
  • E Mangold
  • G Uyanik
  • C Gross
  • J Winkler
  • Claudia Voigt
  • U Bogdahn
  • P Martin
  • Dagmar Wieczorek
  • Alma Kuechler
  • Marloes Steehouwer
  • Andreas Hehr
  • Marcel Martin
  • Maria Puiu
  • Christopher Teller
  • Sven Rahmann
  • Bernd Schweiger
  • Hilde Monica Frostad Riise Stensland
  • Florian Von Deimling
  • Willie Reardon
  • Rainer König
  • Beate Albrecht
  • Bert Callewaert
  • Kornelia Neveling
  • Marie Falkenberg Smeland
  • Hermann Josef Lüdecke
  • Han G Brunner
  • Carlo Marcelis
  • Johanna Christina Czeschik
  • Andre Megarbane
  • P Meinecke
  • G Wolff
  • H Holthausen
  • D J Morris-Rosendahl
  • L Dey
  • J Klapecki
  • T E Neumann
  • B Schulze
  • Y Berman
  • G Helland
  • C Zeschnigk
  • D Muller
  • C Hertzberg
  • A Hehr
  • I Schreyer
  • J Seidel
  • L Ades
  • G Buyse
  • P Burkart
  • U Schara
  • J Stiegler
  • G C Korenke
  • M L Wright
  • S Kortge-Jung
  • G Schuierer
  • C Spaich
  • K Scheglmann
  • B Winner
  • N Elcioglu
  • D Wahl
  • H Topaloglu
  • A Olmez
  • J Penzien
  • E Demir
  • Y Yilmaz
  • H Marschner-Schäfer
  • D Neumann

Detail Information

Publications7

  1. ncbi request reprint 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. pmc Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Claudia Voigt
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Orphanet J Rare Dis 8:110. 2013
    ..Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892)...
  3. ncbi request reprint 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
    ..In other affected family members a delay in speech acquisition and learning disabilities were the leading clinical signs...
  4. doi request reprint 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
    ....
  5. doi request reprint Genetic assessment of cortical malformations
    U Hehr
    Center for and Department of Human Genetics, University of Regensburg, Germany
    Neuropediatrics 42:43-50. 2011
    ....
  6. ncbi request reprint 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...
  7. ncbi request reprint ARX mutations in X-linked lissencephaly with abnormal genitalia
    G Uyanik
    Department of Neurology, University of Regensburg, Germany
    Neurology 61:232-5. 2003
    ....