Peter D Turnpenny

Summary

Affiliation: Royal Devon and Exeter NHS Foundation Trust
Country: UK

Publications

  1. pmc Alagille syndrome: pathogenesis, diagnosis and management
    Peter D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Eur J Hum Genet 20:251-7. 2012
  2. ncbi Defective somitogenesis and abnormal vertebral segmentation in man
    Peter D Turnpenny
    Clinical Genetics Department, Royal Devon and Exeter Hospital, Gladstone Road, Exeter EX1 2ED, United Kingdom
    Adv Exp Med Biol 638:164-89. 2008
  3. ncbi Abnormal vertebral segmentation and the notch signaling pathway in man
    Peter D Turnpenny
    Clinical Genetics, Royal Devon and Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom
    Dev Dyn 236:1456-74. 2007
  4. pmc Mutated MESP2 causes spondylocostal dysostosis in humans
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital, Exeter EX2 5DW, United Kingdom
    Am J Hum Genet 74:1249-54. 2004
  5. ncbi Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart
    Marie Leema P Robert
    Peninsula Clinical Genetics Service, Exeter, UK
    Clin Dysmorphol 16:241-6. 2007
  6. ncbi Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:575-9. 2003
  7. doi Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype
    Marion S Croft
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Clin Dysmorphol 17:189-91. 2008
  8. ncbi Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management
    Gill Spyer
    Department of Endocrinology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter, United Kingdom
    Thyroid 16:605-8. 2006
  9. pmc Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
    Hana Lango Allen
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
    J Med Genet 51:264-7. 2014
  10. ncbi A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance
    Rosanna Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Clin Dysmorphol 16:157-61. 2007

Collaborators

  • Kenro Kusumi
  • Bijay Vaidya
  • Duncan B Sparrow
  • Sally L Dunwoodie
  • Marion S Croft
  • Philip F Giampietro
  • Olivier Pourquie
  • S Ellard
  • Rosanna Pallotta
  • John B Emans
  • Neil V Whittock
  • Hana Lango Allen
  • Alberto S Cornier
  • Marie Leema P Robert
  • Andrew R H Simpson
  • Gill Spyer
  • Bulent Erol
  • Weijia Xie
  • Michael N Weedon
  • Claire L S Turner
  • Xiao Xu
  • Christopher Wragg
  • Richard Caswell
  • Karen Staehling-Hampton
  • Jose Torres
  • Jean Francois Caubet
  • Elizabeth Young
  • Yumiko Saga
  • Simon E Carlo
  • Kym M Delventhal
  • Nobuo Sasaki
  • Norman Ramirez
  • Shuwen Huang
  • John Crolla
  • Oliver Stumper
  • Carol Owen
  • Caspar E A Gibbon
  • Anthony G Quinn
  • Tony Lopez
  • Lisa Burvill-Holmes
  • Andrew T Hattersley
  • David Sillence
  • John P Dormans
  • Megan L O'Brien
  • Merridee A Wouters
  • Michael R Tracy
  • Elaine H Zackai
  • Melissa K Maisenbacher
  • Joep Tuerlings

Detail Information

Publications15

  1. pmc Alagille syndrome: pathogenesis, diagnosis and management
    Peter D Turnpenny
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Eur J Hum Genet 20:251-7. 2012
    ..This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management...
  2. ncbi Defective somitogenesis and abnormal vertebral segmentation in man
    Peter D Turnpenny
    Clinical Genetics Department, Royal Devon and Exeter Hospital, Gladstone Road, Exeter EX1 2ED, United Kingdom
    Adv Exp Med Biol 638:164-89. 2008
    ..Significant future challenges lie in identifying causes of the many abnormal segmentation phenotypes in man but it is hoped that combined approaches in collaboration with developmental biologists will reap rewards...
  3. ncbi Abnormal vertebral segmentation and the notch signaling pathway in man
    Peter D Turnpenny
    Clinical Genetics, Royal Devon and Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom
    Dev Dyn 236:1456-74. 2007
    ..Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing...
  4. pmc Mutated MESP2 causes spondylocostal dysostosis in humans
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital, Exeter EX2 5DW, United Kingdom
    Am J Hum Genet 74:1249-54. 2004
    ..No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes...
  5. ncbi Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart
    Marie Leema P Robert
    Peninsula Clinical Genetics Service, Exeter, UK
    Clin Dysmorphol 16:241-6. 2007
    ..He has normal liver function tests, facial features consistent with Alagille syndrome, and mild learning difficulties. To our knowledge this is the first report of Alagille syndrome associated with hypoplastic left heart syndrome...
  6. ncbi Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:575-9. 2003
    ..This is the first case of molecular genetic prenatal diagnosis in any form of SCD...
  7. doi Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype
    Marion S Croft
    Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
    Clin Dysmorphol 17:189-91. 2008
  8. ncbi Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management
    Gill Spyer
    Department of Endocrinology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter, United Kingdom
    Thyroid 16:605-8. 2006
    ..We suggest that prophylactic thyroidectomy is unnecessary in these patients although they should still be screened for endocrinopathy on a regular basis...
  9. pmc Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
    Hana Lango Allen
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
    J Med Genet 51:264-7. 2014
    ..We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype...
  10. ncbi A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance
    Rosanna Pallotta
    Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
    Clin Dysmorphol 16:157-61. 2007
    ..The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity...
  11. ncbi Disruption of the somitic molecular clock causes abnormal vertebral segmentation
    Duncan B Sparrow
    Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, Australia
    Birth Defects Res C Embryo Today 81:93-110. 2007
    ..This review describes our current understanding of the somitic molecular clock and highlights how key findings in developmental biology can impact on clinical practice...
  12. pmc Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome
    Alberto S Cornier
    Department of Molecular Medicine, La Concepcion Hospital, San German, PR 00683, USA
    Am J Hum Genet 82:1334-41. 2008
    ..Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS...
  13. ncbi Infantile high myopia in Bohring-Opitz syndrome
    Andrew R H Simpson
    The Peninsula Medical School, Universities of Exeter and Plymouth, Exeter, Devon, UK
    J AAPOS 11:524-5. 2007
    ..The presence of high myopia may be helpful in identifying suitable candidate genes and elucidating the genetic mechanism, as well as alerting ophthalmologists to the importance of refraction for affected children...
  14. ncbi Formation errors of the vertebral column
    Kenro Kusumi
    School of Life Sciences, Arizona State University, P O Box 874501, Tempe, AZ 85287 4501, USA
    J Bone Joint Surg Am 89:64-71. 2007
  15. ncbi Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis
    Bulent Erol
    Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    J Pediatr Orthop 24:674-82. 2004
    ..This type of analysis has identified subgroups of patients with multiple, contiguous segmental defects and orthopaedic associations that are particularly suitable for further genetic analysis...