Research Topics
Species | Peter D TurnpennySummaryAffiliation: Royal Devon and Exeter NHS Foundation Trust Country: UK Publications
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Publications
Alagille syndrome: pathogenesis, diagnosis and managementPeter 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...
Defective somitogenesis and abnormal vertebral segmentation in manPeter 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...- Abnormal vertebral segmentation and the notch signaling pathway in manPeter 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... - Mutated MESP2 causes spondylocostal dysostosis in humansNeil 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... - Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heartMarie 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... - Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotypeMarion S Croft
Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
Clin Dysmorphol 17:189-91. 2008 - Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosisNeil 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... - Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for managementGill 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... - A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearanceRosanna 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... - Infantile high myopia in Bohring-Opitz syndromeAndrew 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... - Disruption of the somitic molecular clock causes abnormal vertebral segmentationDuncan 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... - Formation errors of the vertebral columnKenro 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 - Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeAlberto 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... - Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysisBulent 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...