P E M Taschner

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. pmc Locus Reference Genomic sequences: an improved basis for describing human DNA variants
    Raymond Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Genome Med 2:24. 2010
  2. pmc The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
    Jean Pierre Bayley
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9503, 2300 RA, Leiden, The Netherlands
    BMC Med Genet 6:39. 2005
  3. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
  4. pmc A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
    Jeroen F J Laros
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Bioinformatics 12:S5. 2011
  5. ncbi request reprint [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]
    P E M Taschner
    Leids Universitair Medisch Centrum, Centrum voor Humane en Klinische Genetica, Postbus 9503, 2300 RA Leiden
    Ned Tijdschr Geneeskd 149:300-3. 2005
  6. ncbi request reprint [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas]
    P E M Taschner
    Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden, Centrum voor Humane en Klinische Genetica
    Ned Tijdschr Geneeskd 146:2188-90. 2002
  7. doi request reprint Describing structural changes by extending HGVS sequence variation nomenclature
    Peter E M Taschner
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland
    Hum Mutat 32:507-11. 2011
  8. ncbi request reprint Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
    P E Taschner
    Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Genes Chromosomes Cancer 31:274-81. 2001
  9. ncbi request reprint Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas
    W H van Houtum
    Leiden University Medical Center, Departments of Endocrinology and Metabolic Diseases, Leiden, The Netherlands
    Eur J Endocrinol 152:87-94. 2005
  10. ncbi request reprint SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology
    P B Douwes Dekker
    Department of Otorhinolaryngology, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 201:480-6. 2003

Collaborators

  • Johan T den Dunnen
  • B E Baysal
  • P Devilee
  • G J B van Ommen
  • O P van Diggelen
  • Jean Pierre Bayley
  • Jeroen F J Laros
  • P B Douwes Dekker
  • Raymond Dalgleish
  • W H van Houtum
  • G De Voer
  • A G L van der Mey
  • C J Cornelisse
  • AndrĂ© Blavier
  • Pontus Larsson
  • Fiona Cunningham
  • Donna R Maglott
  • Heikki Lehvaslaiho
  • Glenn Proctor
  • Andrew Devereau
  • Paul Flicek
  • William M McLaren
  • Yuan Chen
  • Brendan W Vaughan
  • Alex Astashyn
  • Anthony J Brookes
  • Raymond E Tully
  • Ewan Birney
  • Glen Dobson
  • Christophe Beroud
  • Marjan M Weiss
  • Peter H N Oomen
  • Lesley C Alpert
  • Jeroen C Jansen
  • Barbara Pasini
  • Edward Blair
  • Nora Wong
  • Ivonne van Minderhout
  • Rosie Williams
  • Barbara Ferrando
  • Fred H Menko
  • A J G Rodrigues
  • M Losekoot
  • J A Romijn
  • P van der Bent
  • J C Jansen
  • D J M Peters
  • A H J T Brocker-Vriends
  • M Frolich
  • M P M Stokkel
  • E P M Corssmit
  • F A Prins
  • N Kuipers-Dijkshoorn
  • S G van Duinen
  • P C W Hogendoorn

Detail Information

Publications11

  1. pmc Locus Reference Genomic sequences: an improved basis for describing human DNA variants
    Raymond Dalgleish
    Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK
    Genome Med 2:24. 2010
    ..Further information can be found on the LRG web site: http://www.lrg-sequence.org...
  2. pmc The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
    Jean Pierre Bayley
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P, O, Box 9503, 2300 RA, Leiden, The Netherlands
    BMC Med Genet 6:39. 2005
    ..The largest subunit, SDHA, is mutated in patients with Leigh syndrome and late-onset optic atrophy, but has not as yet been identified as a factor in hereditary cancer...
  3. pmc Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Med Genet 7:1. 2006
    ..Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II)...
  4. pmc A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
    Jeroen F J Laros
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Bioinformatics 12:S5. 2011
    ..Development of new tools is hampered by the complexity of the current nomenclature, which requires processing at the character level to recognize the specific syntactic constructs used in variant descriptions...
  5. ncbi request reprint [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]
    P E M Taschner
    Leids Universitair Medisch Centrum, Centrum voor Humane en Klinische Genetica, Postbus 9503, 2300 RA Leiden
    Ned Tijdschr Geneeskd 149:300-3. 2005
    ..The carrier status of healthy relatives in families with known mutations in either CLN1, CLN2, CLN3 or CLN6 can be determined with certainty by mutation analysis...
  6. ncbi request reprint [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas]
    P E M Taschner
    Leids Universitair Medisch Centrum, Postbus 9503, 2300 RA Leiden, Centrum voor Humane en Klinische Genetica
    Ned Tijdschr Geneeskd 146:2188-90. 2002
    ..Most paraganglioma cases in the Netherlands are caused by SDHD mutations. Presymptomatic DNA diagnosis is available for families with paragangliomas caused by SDHD mutations...
  7. doi request reprint Describing structural changes by extending HGVS sequence variation nomenclature
    Peter E M Taschner
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland
    Hum Mutat 32:507-11. 2011
    ..g., Mutalyzer, http://www.mutalyzer.nl/). We are extending the functionality of Mutalyzer to incorporate the latest version of the HGVS sequence variation nomenclature guidelines...
  8. ncbi request reprint Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
    P E Taschner
    Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Genes Chromosomes Cancer 31:274-81. 2001
    ..In addition, we demonstrate that the maternally derived wild-type SDHD allele is lost in tumors from mutation-carrying patients, indicating that SDHD functions as a tumor suppressor gene...
  9. ncbi request reprint Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas
    W H van Houtum
    Leiden University Medical Center, Departments of Endocrinology and Metabolic Diseases, Leiden, The Netherlands
    Eur J Endocrinol 152:87-94. 2005
    ..The aim of this study was to identify the prevalence of catecholamine excess and phaeochromocytomas in a well-defined population of people with hereditary head and neck paragangliomas...
  10. ncbi request reprint SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology
    P B Douwes Dekker
    Department of Otorhinolaryngology, Leiden University Medical Centre, Leiden, The Netherlands
    J Pathol 201:480-6. 2003
    ..These results indicate that the function of mitochondrial complex II is compromised in the majority of head and neck paragangliomas...
  11. ncbi request reprint Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype
    G De Voer
    Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Inherit Metab Dis 28:1065-80. 2005
    ....