P
Peter D. Turnpenny
Researcher at Royal Devon and Exeter Hospital
Publications - 131
Citations - 6834
Peter D. Turnpenny is an academic researcher from Royal Devon and Exeter Hospital. The author has contributed to research in topics: Spondylocostal dysostosis & Exome sequencing. The author has an hindex of 38, co-authored 121 publications receiving 5936 citations.
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Journal ArticleDOI
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
John D. Carpten,Christiane M. Robbins,Andrea Villablanca,Lars Forsberg,Silvano Presciuttini,Joan E. Bailey-Wilson,William F. Simonds,E. Gillanders,A.M. Kennedy,Jindong Chen,Sunita K. Agarwal,Raman Sood,Mary Pat Jones,Tracy Moses,C. Haven,David Petillo,P.D. Leotlela,Brian Harding,David Cameron,Anna A.J. Pannett,Anders Höög,H. Heath,Laura James-Newton,Bruce G. Robinson,R.J. Zarbo,Branca M. Cavaco,Wassif S. Wassif,N.D. Perrier,I.B. Rosen,Ulf Kristoffersson,Peter D. Turnpenny,Lars-Ove Farnebo,G. M. Besser,Charles E. Jackson,Hans Morreau,J.M. Trent,Rajesh V. Thakker,Stephen J. Marx,Bin Tean Teh,Catharina Larsson,Maurine R. Hobbs +40 more
TL;DR: The findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT–JT and in development of some sporadic parathyroid tumors.
Journal ArticleDOI
A clinical study of 57 children with fetal anticonvulsant syndromes
Susan J Moore,Peter D. Turnpenny,A. Quinn,S. Glover,David J. Lloyd,Tara Montgomery,John Dean +6 more
TL;DR: Speech delay, joint laxity, glue ear, and myopia are common in the fetal anticonvulsant syndromes and autistic features and hyperactivity form part of the behavioural phenotype.
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Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Adelene D. Rasalam,H. Hailey,Justin H. G. Williams,S. J. Moore,Peter D. Turnpenny,David J Lloyd,John Dean +6 more
TL;DR: It was concluded that prenatal exposure to anticonvulsant medication is a risk factor for the development of an ASD.
Journal ArticleDOI
Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis
Michael P. Bulman,Kenro Kusumi,Timothy M. Frayling,Carole McKeown,Christine Garrett,Eric S. Lander,Robb Krumlauf,Andrew T. Hattersley,Sian Ellard,Peter D. Turnpenny +9 more
TL;DR: This work cloned and sequenced human DLL3 to evaluate it as a candidate gene for SD and identified mutations in three autosomal recessive SD families that represent the first mutations in a human Delta homologue.
Journal ArticleDOI
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Meena Upadhyaya,Susan M Huson,M. Davies,Nicholas Stuart Tudor Thomas,Nadia Chuzhanova,S. Giovannini,D G R Evans,E. Howard,Bronwyn Kerr,Sian Wyn Griffiths,Claudia Consoli,Lucy Side,Darius J. Adams,Mary Ella M Pierpont,Rachel K. Hachen,A. Barnicoat,Hua Li,P. Wallace,J. P. Van Biervliet,David A. Stevenson,Dave Viskochil,Diana Baralle,Eric Haan,Vincent M. Riccardi,Peter D. Turnpenny,Conxi Lázaro,Ludwine Messiaen +26 more
TL;DR: These data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype, and the biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.