J M Hertz

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. ncbi 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
  2. ncbi [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]
    J M Hertz
    Arhus Universitetshospital, Arhus Kommunehospital, klinisk genetisk afdeling og neurokirurgisk afdeling GS
    Ugeskr Laeger 163:4862-7. 2001
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi Alport syndrome in southern Sweden
    U Persson
    Department of Nephrology, Lund University Hospital, Sweden
    Clin Nephrol 64:85-90. 2005
  7. ncbi Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient
    J Zhou
    Department of Biochemistry, University of Oulu, Finland
    J Biol Chem 267:12475-81. 1992
  8. ncbi Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population
    A Haagerup
    Institute of Human Genetics, Aarhus University, Denmark
    Eur J Hum Genet 8:431-6. 2000
  9. ncbi High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
    P Martin
    Biocenter and Department of Biochemistry, University of Oulu, Finland
    J Am Soc Nephrol 9:2291-301. 1998
  10. ncbi Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
    J M Hertz
    J Med Genet 41:e25. 2004

Collaborators

Detail Information

Publications12

  1. ncbi 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...
  2. ncbi [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias]
    J M Hertz
    Arhus Universitetshospital, Arhus Kommunehospital, klinisk genetisk afdeling og neurokirurgisk afdeling GS
    Ugeskr Laeger 163:4862-7. 2001
    ..The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi Alport syndrome in southern Sweden
    U Persson
    Department of Nephrology, Lund University Hospital, Sweden
    Clin Nephrol 64:85-90. 2005
    ..The aim of the present investigation is to study the epidemiology of Alport syndrome in southern Sweden, to search for mutations in the COL4A5 gene and to estimate the mutation frequency...
  7. ncbi Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient
    J Zhou
    Department of Biochemistry, University of Oulu, Finland
    J Biol Chem 267:12475-81. 1992
    ..The mutation changed the GGT codon of glycine 521 to cysteine. The same mutation was found in one allele of the female cousin. The results were confirmed by allele-specific hybridization analyses...
  8. ncbi Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population
    A Haagerup
    Institute of Human Genetics, Aarhus University, Denmark
    Eur J Hum Genet 8:431-6. 2000
    ..Founder effect, locus homogeneity, and allele heterogeneity regarding pycnodysostosis within this population are discussed. Finally, the first pregnancy and delivery described in a patient with pycnodysostosis is reported...
  9. ncbi High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
    P Martin
    Biocenter and Department of Biochemistry, University of Oulu, Finland
    J Am Soc Nephrol 9:2291-301. 1998
    ..It is concluded that PCR amplification and direct DNA sequencing of the promoter and exons is currently the best procedure to detect mutations in COL4A5 in Alport syndrome...
  10. ncbi Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
    J M Hertz
    J Med Genet 41:e25. 2004
  11. ncbi X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families
    M O Lexner
    Department of Pediatric Dentistry and Clinical Genetics, University of Copenhagen, Copenhagen, N, Denmark
    Clin Genet 74:252-9. 2008
    ..However, in two female carriers with pronounced clinical symptoms, in whom the parental origin of each allele was known, we observed that mainly the normal allele was inactivated...
  12. ncbi A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia
    E Miraglia del Giudice
    Department of Paediatrics, Second University of Naples, Naples, Italy
    J Med Genet 40:e71. 2003