Affiliation: Derriford Hospital
- Of eponyms, acronyms and...orthonymsPeter Turnpenny
Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
Nat Rev Genet 4:152-6. 2003
- 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 dysostosisP 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...
- Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisM 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..
- A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3P 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...
- Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial casesMelita 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)...
- Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRRJohn 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...
- Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian 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...