Heymut Omran

Summary

Affiliation: University of Freiburg
Country: Germany

Publications

  1. ncbi request reprint Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene
    Heymut Omran
    University Children s Hospital Freiburg, University of Bonn, Bonn, Germany
    J Am Soc Nephrol 13:75-9. 2002
  2. pmc Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
    Jorn Oliver Sass
    Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Freiburg, Germany
    Am J Hum Genet 78:401-9. 2006
  3. ncbi request reprint Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients
    Vassilios I Vougioukas
    Department of Neurosurgery, Neurocenter, Albert Ludwigs University of Freiburg, Breisacherstrasse 64, 79106 Freiburg im Breisgau, Germany
    Childs Nerv Syst 22:1149-53. 2006
  4. ncbi request reprint NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
    Udo F H Engelke
    Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands
    NMR Biomed 21:138-47. 2008
  5. ncbi request reprint A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
    Bartlomiej Budny
    Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195, Berlin, Germany
    Hum Genet 120:171-8. 2006
  6. ncbi request reprint Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
    Edgar A Otto
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 37:282-8. 2005
  7. pmc Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
    Carsten Bergmann
    Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
    Am J Hum Genet 82:959-70. 2008
  8. pmc Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36
    Maria J Schuermann
    University Children s Hospital, Freiburg University, Freiburg, Germany
    Am J Hum Genet 70:1240-6. 2002
  9. ncbi request reprint Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    Georg C Schwabe
    Department for General Pediatrics, Charite University Hospital, Campus Virchow, Berlin, Germany
    Hum Mutat 29:289-98. 2008
  10. pmc Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
    Serena Y Tan
    Laboratory of Developmental Biology and NHLBI Electron Microscopy Core Facility, National Heart Lung and Blood Institute, NIH, Bethesda, Maryland 20892 1583, USA
    J Clin Invest 117:3742-52. 2007

Collaborators

  • Jorn Oliver Sass
  • Sven Glasker
  • Hartmut P H Neumann
  • Ansgar Berlis
  • B Utsch
  • M W Wessels
  • A Tzschach
  • Wei Chen
  • Anand Swaroop
  • Steffen Lenzner
  • M Raynaud
  • E Fazzi
  • V I Vougioukas
  • S E Antonarakis
  • M A Parisi
  • Hans Hilger Ropers
  • C Bergmann
  • Heike Olbrich
  • Manfred Fliegauf
  • Maimoona A Zariwala
  • Judit Horvath
  • Michael R Knowles
  • Ralf Sudbrak
  • Richard Reinhardt
  • Friedhelm Hildebrandt
  • Juliana Helou
  • Edgar A Otto
  • Andreas Kispert
  • Udo F H Engelke
  • Georg C Schwabe
  • Niki Tomas Loges
  • Jean Louis Blouin
  • Serena Y Tan
  • Lucia Bartoloni
  • Peadar G Noone
  • JOHN F O'TOOLE
  • Massimo Attanasio
  • Nada Hornef
  • John A Sayer
  • Philippa B Mills
  • Bartlomiej Budny
  • Marcus Kennedy
  • Christian Kubisch
  • Edgar Otto
  • Julia Hoefele
  • Maria J Schuermann
  • Katrin Hoffmann
  • Ron A Wevers
  • Daniel Birker
  • Uta Liebers
  • Stefan Mundlos
  • Claire Hart
  • Jacqui Calvin
  • Colette Rossier
  • Mirella Collura
  • Mike Failly
  • Margherita M de Santi
  • Gerhard Gaedicke
  • Erik Gerlo
  • Ulrich Wahn
  • Stefan Krywawych
  • Rudy N Van Coster
  • Bodo Niggemann
  • Ian Glass
  • Xiao Qing Zhao
  • Richard J Francis
  • Linda Leatherbury
  • Steven L Sabol
  • Qing Yu
  • Susan J Allen
  • Julie Rosenthal
  • Patricia S Connelly
  • Bishwanath Chatterjee
  • Luciann Bracero
  • Cecilia W Lo
  • Kaari L Linask
  • Seema Hashmi
  • Mathew P Daniels
  • Estelle Escudier
  • Milan J Hazucha
  • Bénédicte Duriez
  • Anne Marie Bridoux
  • Uta Tacke
  • Peter Ahrens
  • Bernhard Weschke
  • Franck Ceppa
  • Eduard Struys
  • Matthias Baumgartner
  • Magda Badura
  • Johannes Wildhaber

Detail Information

Publications20

  1. ncbi request reprint Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene
    Heymut Omran
    University Children s Hospital Freiburg, University of Bonn, Bonn, Germany
    J Am Soc Nephrol 13:75-9. 2002
    ..Localization of a SLS locus to the region of NPHP3 opens the possibilities of both diseases arising by mutations within the same pleiotropic gene or two adjacent genes...
  2. pmc Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
    Jorn Oliver Sass
    Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Freiburg, Germany
    Am J Hum Genet 78:401-9. 2006
    ..Awareness of this new genetic entity may help both in delineating its clinical significance and in avoiding erroneous diagnoses...
  3. ncbi request reprint Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients
    Vassilios I Vougioukas
    Department of Neurosurgery, Neurocenter, Albert Ludwigs University of Freiburg, Breisacherstrasse 64, 79106 Freiburg im Breisgau, Germany
    Childs Nerv Syst 22:1149-53. 2006
    ..This study aims to outline the neurosurgical treatment options and to address the ongoing debate of surgical timing in pediatric patients with VHL...
  4. ncbi request reprint NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
    Udo F H Engelke
    Radboud University Nijmegen Medical Center, Laboratory of Pediatrics and Neurology, Nijmegen, The Netherlands
    NMR Biomed 21:138-47. 2008
    ..Our data define aminoacylase 1 deficiency at the metabolite level providing a specific urinary profile of accumulating N-acetylated amino acids...
  5. ncbi request reprint A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
    Bartlomiej Budny
    Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195, Berlin, Germany
    Hum Genet 120:171-8. 2006
    ..This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms...
  6. ncbi request reprint Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
    Edgar A Otto
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 37:282-8. 2005
    ..Our studies emphasize the central role of ciliary dysfunction in the pathogenesis of SLSN...
  7. pmc Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
    Carsten Bergmann
    Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
    Am J Hum Genet 82:959-70. 2008
    ....
  8. pmc Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36
    Maria J Schuermann
    University Children s Hospital, Freiburg University, Freiburg, Germany
    Am J Hum Genet 70:1240-6. 2002
    ..8 for D1S253 in this kindred alone. In addition, we were able to localize to the NPHP4 locus a new locus for Senior-Løken syndrome, an NPHP variant associated with retinitis pigmentosa...
  9. ncbi request reprint Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    Georg C Schwabe
    Department for General Pediatrics, Charite University Hospital, Campus Virchow, Berlin, Germany
    Hum Mutat 29:289-98. 2008
    ....
  10. pmc Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
    Serena Y Tan
    Laboratory of Developmental Biology and NHLBI Electron Microscopy Core Facility, National Heart Lung and Blood Institute, NIH, Bethesda, Maryland 20892 1583, USA
    J Clin Invest 117:3742-52. 2007
    ..Ciliary dyskinesia was observed by videomicroscopy. These findings show that Dnahc5 is required for the specification of left-right asymmetry and suggest that the PCD-causing Dnahc5 mutation may also be associated with heterotaxy...
  11. pmc Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation
    Maimoona A Zariwala
    University of North Carolina at Chapel Hill 27599 7248, USA, and Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Germany
    Am J Respir Crit Care Med 174:858-66. 2006
    ..Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia...
  12. pmc Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome
    Juliana Helou
    J Med Genet 44:657-63. 2007
    ..In Senior-Løken syndrome (SLSN), NPHP is associated with retinal degeneration. Recently, mutations in NPHP6/CEP290 were identified as a new cause of JBTS...
  13. pmc DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
    Nada Hornef
    Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany
    Am J Respir Crit Care Med 174:120-6. 2006
    ..To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components...
  14. ncbi request reprint Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    Philippa B Mills
    Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK
    Nat Med 12:307-9. 2006
    ..Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis...
  15. ncbi request reprint Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients
    Judit Horvath
    Department of Pediatrics and Adolescent Medicine, Albert Ludwigs University, Freiburg, Germany
    Am J Respir Cell Mol Biol 33:41-7. 2005
    ..Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD...
  16. ncbi request reprint Far lateral supracerebellar infratentorial approach for the treatment of upper brainstem gliomas: clinical experience with pediatric patients
    Vassilios I Vougioukas
    Department of Neurosurgery, Neurocenter, Albert Ludwigs University of Freiburg, Breisacherstrasse 64, 79106, Freiburg im Breisgau, Germany
    Childs Nerv Syst 21:1037-41. 2005
    ..The aim of this study was to assess the feasibility of the extracerebral far lateral supracerebellar infratentorial (FLSI) approach for the treatment of gliomas located in the upper brainstem in the pediatric population...
  17. pmc Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia
    Manfred Fliegauf
    Department of Pediatrics and Adolescent Medicine, Mathildenstrasse 1, 79106 Freiburg, Germany
    Am J Respir Crit Care Med 171:1343-9. 2005
    ..Diagnosis of PCD usually relies on electron microscopy, which is technically demanding and sometimes difficult to interpret...
  18. ncbi request reprint Autosomal recessive rippling muscle disease with homozygous CAV3 mutations
    Christian Kubisch
    Ann Neurol 57:303-4. 2005
  19. ncbi request reprint Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
    Heike Olbrich
    Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
    Nat Genet 34:455-9. 2003
    ..Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone, suggesting therapeutic strategies for treating individuals with NPHP3...
  20. doi request reprint Candidate gene analysis in three families with acilia syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 146:1765-7. 2008