J M Hertz

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. ncbi request reprint Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Denmark
    Eur J Neurol 13:385-90. 2006
  2. doi request reprint MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark
    Clin Genet 74:522-30. 2008
  3. ncbi request reprint Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark
    Hum Mutat 18:141-8. 2001
  4. ncbi request reprint Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
    Lena Elisabeth Hjermind
    Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark
    Mov Disord 21:679-82. 2006
  5. ncbi request reprint [Prenatal diagnostics in Arhus and Viborg Counties after implementation of first trimester risk assessment]
    Niels Tørring
    Arhus Universitetshospital, Skejby, Klinisk Biokemisk Afdeling, Arhus N
    Ugeskr Laeger 170:50-4. 2008
  6. ncbi request reprint Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
    Jens Michael Hertz
    Department of Clinical Genetics, Aarhus University Hospital, DK, 8000, Aarhus C, Denmark
    Hum Genet 118:23-8. 2005
  7. ncbi request reprint A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Denmark
    Clin Genet 53:205-9. 1998
  8. ncbi request reprint X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
    Jean Philippe Jais
    Biostatistique et Informatique Médicale, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    J Am Soc Nephrol 14:2603-10. 2003
  9. ncbi request reprint Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain
    Ulf Persson
    Department of Nephrology, Lund University, Sweden
    Nephrol Dial Transplant 19:2030-5. 2004
  10. ncbi request reprint LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005

Collaborators

  • U Persson
  • G Matthijs
  • Helen Michelakakis
  • K Dahan
  • Marie Claire Gubler
  • Oliver Gross
  • Marianne Schwartz
  • L B Møller
  • A Haagerup
  • Niels Tørring
  • Ina Fickelscher
  • Lena Elisabeth Hjermind
  • Jean Philippe Jais
  • Niels Uldbjerg
  • Olav Bennike Bjørn Petersen
  • Anni Holmskov
  • Line Riis Jølving
  • Zeynep Tumer
  • Kathryn Watts
  • N Simon Thomas
  • Simone Heidemann
  • Victoria Bryant
  • Reiner Siebert
  • Thomas Liehr
  • John C K Barber
  • Nenad Blau
  • Christoph Burkhard Lucking
  • Lisbeth Regeur
  • Lars Friberg
  • Lis Gitte Johannsen
  • Ron Allan Wevers
  • Jørgen Erik Nielsen
  • Sven Asger Sørensen
  • Frances Flinter
  • Yves Pirson
  • Mario De Marchi
  • Gianfranco Rizzoni
  • Corinne Antignac
  • Marek Sanak
  • Iannis Giatras
  • Juan Saus
  • Alessandra Renieri
  • Paula Martin
  • Cornelis Schröder
  • Karl Tryggvason
  • Maria Fernanda Carvalho
  • Bertrand Knebelmann
  • Manfred Weber
  • Jorgen Wieslander
  • Kai Olaf Netzer
  • Hubert Smeets

Detail Information

Publications12

  1. ncbi request reprint Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Denmark
    Eur J Neurol 13:385-90. 2006
    ..In conclusion, homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early-onset of the disease...
  2. doi request reprint MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark
    Clin Genet 74:522-30. 2008
    ..We found that the combination of cDNA and MLPA analysis improves the mutation detection rate in COL4A5 and that MLPA should be the first step in genetic testing for X-linked AS...
  3. ncbi request reprint Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark
    Hum Mutat 18:141-8. 2001
    ..Three de novo mutations were found, two of which were paternal and one of maternal origin...
  4. ncbi request reprint Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
    Lena Elisabeth Hjermind
    Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark
    Mov Disord 21:679-82. 2006
    ....
  5. ncbi request reprint [Prenatal diagnostics in Arhus and Viborg Counties after implementation of first trimester risk assessment]
    Niels Tørring
    Arhus Universitetshospital, Skejby, Klinisk Biokemisk Afdeling, Arhus N
    Ugeskr Laeger 170:50-4. 2008
    ....
  6. ncbi request reprint Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
    Jens Michael Hertz
    Department of Clinical Genetics, Aarhus University Hospital, DK, 8000, Aarhus C, Denmark
    Hum Genet 118:23-8. 2005
    ..Larger structural rearrangements constitute 2.3% (1/43) of the mutations in the present material...
  7. ncbi request reprint A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
    J M Hertz
    Department of Clinical Genetics, Aarhus University Hospital, Denmark
    Clin Genet 53:205-9. 1998
    ..This mutation cosegregates with the disease in the family and is the first mutation described which affects the predicted transmembrane, hydrophobic domain of the protein...
  8. ncbi request reprint X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
    Jean Philippe Jais
    Biostatistique et Informatique Médicale, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    J Am Soc Nephrol 14:2603-10. 2003
    ..Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect...
  9. ncbi request reprint Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain
    Ulf Persson
    Department of Nephrology, Lund University, Sweden
    Nephrol Dial Transplant 19:2030-5. 2004
    ....
  10. ncbi request reprint LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I...
  11. ncbi request reprint [Pycnodysostosis--common ancestor of some Danish patients. Examination and diagnosis based on molecular genetics]
    Annette Haagerup
    Institut for Human Genetik, Bartholin Bygningen, Aarhus Universitet, DK 8000 Arhus C
    Ugeskr Laeger 164:887-90. 2002
    ..The disease is described with respect to aetiology, symptoms, prognosis, diagnosis, and symptomatic treatment. Research in pycnodysostosis may bring important knowledge to the understanding of related diseases, such as osteoporosis...
  12. pmc The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity
    Ina Fickelscher
    Institut fur Humangenetik und Anthropologie, Friedrich Schiller University, Jena, Germany
    Am J Hum Genet 81:847-56. 2007
    ..2q13): the majority have arisen independently in different ancestors, while a minority either have been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level...