Peter Turnpenny

Summary

Affiliation: Derriford Hospital
Country: UK

Publications

  1. ncbi request reprint Of eponyms, acronyms and...orthonyms
    Peter Turnpenny
    Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
    Nat Rev Genet 4:152-6. 2003
  2. pmc Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    J Med Genet 40:333-9. 2003
  3. ncbi request reprint Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
    M P Bulman
    Molecular Genetics, School of Postgraduate Medicine and Health Sciences, Barrack Road, Exeter, UK
    Nat Genet 24:438-41. 2000
  4. pmc A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW United Kingdom
    Am J Hum Genet 65:175-82. 1999
  5. ncbi request reprint Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases
    Melita Irving
    Department of Clinical Genetics, 7th Floor, New Guy s House, Guy s Hospital, St Thomas Street, London SE1 9RT, United Kingdom
    Am J Med Genet A 123:153-63. 2003
  6. ncbi request reprint Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR
    John Dean
    Department of Medical Genetics, Clinical Genetics Centre, University of Aberdeen, Aberdeen, Scotland, United Kingdom
    Am J Med Genet A 143:2303-11. 2007
  7. doi request reprint Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
    Marian Kroos
    Departments of Clinical Genetics and Pediatrics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 29:E13-26. 2008

Collaborators

  • Timothy M Frayling
  • A T Hattersley
  • S Ellard
  • K Kusumi
  • Pascal Laforet
  • W Wuyts
  • M Tarnopolsky
  • G Matthijs
  • Annette Feigenbaum
  • Marian Kroos
  • John Dean
  • Melita Irving
  • M P Bulman
  • Jan Eric Mansson
  • Nancy Leslie
  • Martina Baethmann
  • L Van Maldergem
  • Johan Van Hove
  • Barry J Byrne
  • N Muntjewerff
  • Rachel E Palmer
  • Wuh Liang Hwu
  • Christine Verellen
  • Helen Michelakakis
  • Robert J Pomponio
  • John Wokke
  • Michael Phipps
  • Arnold Reuser
  • Soroush Tahmasebi
  • S R Ghaffari
  • Ans van der Ploeg
  • Priya Kishnani
  • A M Lund
  • Maryam Banikazemi
  • J Rake
  • Nagahashi Marie
  • Nadine van der Beek
  • Robert Van der Helm
  • George F Gray
  • Aly Gadalla
  • A Bosch
  • Paul Rees
  • Hernan Amartino
  • Ed Wraith
  • Ernest S Holmes
  • Mirella Filocamo
  • Barbara Plecko
  • Paul Nelson
  • Matthew Taylor
  • Diana M Escolar
  • Tom de Koning
  • Alan Pestronk
  • Paula R Clemens
  • Dicky Halley
  • Barry Rosenbloom
  • ValĂ©rie Doppler
  • Sue Ann Smith
  • Kenneth M Jaffe
  • J P Clancy
  • Mary Nevins
  • Joel Charrow
  • Suely Kazue
  • Katrien Storm
  • Gerard de Jong
  • Carl Garabedian
  • Laura Van Vliet
  • Irene Mavridou
  • Julian Little
  • Q Diana Wang
  • Sue Moore
  • David Lloyd
  • Duncan Shaw
  • Hazel Hailey
  • Amanda Cardy
  • A Dee Rasalam
  • Zoe Robertson
  • V Reid
  • Helen Hanson
  • Caroline Mackie Ogilvie
  • Jonathan Berg
  • Angela Davies
  • Carole Brewer
  • C Garrett
  • R Krumlauf
  • C McKeown
  • E S Lander

Detail Information

Publications7

  1. ncbi request reprint Of eponyms, acronyms and...orthonyms
    Peter Turnpenny
    Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
    Nat Rev Genet 4:152-6. 2003
  2. pmc Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    J Med Genet 40:333-9. 2003
    ..This is a very consistent phenotype-genotype correlation and we suggest the designation SCD type 1 for the AR form caused by mutations in the DLL3 gene...
  3. ncbi request reprint Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
    M P Bulman
    Molecular Genetics, School of Postgraduate Medicine and Health Sciences, Barrack Road, Exeter, UK
    Nat Genet 24:438-41. 2000
    ..These represent the first mutations in a human Delta homologue, thus highlighting the critical role of the Notch signalling pathway and its components in patterning the mammalian axial..
  4. pmc A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3
    P D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW United Kingdom
    Am J Hum Genet 65:175-82. 1999
    ..Identification of these genes will improve the understanding of the molecular processes contributing to both normal and abnormal human vertebral development...
  5. ncbi request reprint Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases
    Melita Irving
    Department of Clinical Genetics, 7th Floor, New Guy s House, Guy s Hospital, St Thomas Street, London SE1 9RT, United Kingdom
    Am J Med Genet A 123:153-63. 2003
    ..Other genes in the region that might have a role in causing the phenotype include the genes coding for fibroblast growth factor receptor type 2 (FGFR2) and C-terminal binding protein 2 (CTBP2)...
  6. ncbi request reprint Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR
    John Dean
    Department of Medical Genetics, Clinical Genetics Centre, University of Aberdeen, Aberdeen, Scotland, United Kingdom
    Am J Med Genet A 143:2303-11. 2007
    ..MTR 2756A > G and MTRR 66A > G genotype frequencies in children with FACS and neurodevelopmental disorder were different from those in healthy blood donor controls...
  7. doi request reprint Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
    Marian Kroos
    Departments of Clinical Genetics and Pediatrics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 29:E13-26. 2008
    ..Further, this article introduces a tool to rate the various mutations by severity, which will improve understanding of the genotype-phenotype correlation and facilitate the diagnosis and prognosis in Pompe disease...