J C S Dean
Affiliation: University of Aberdeen
- Fetal anticonvulsant syndrome and mutation in the maternal MTHFR geneJ C Dean
Department of Medical Genetics, Aberdeen Royal Hospitals NHS Trust, Foresterhill, Scotland, UK
Clin Genet 56:216-20. 1999..The skewed distribution of genotypes in the affected children probably reflects the association of fetal anticonvulsant syndrome with the maternal genotype...
- Ophthalmic findings in fetal anticonvulsant syndrome(s)Simon J Glover
West of England Eye Unit, Royal Devon and Exeter Hospital, Exeter, UK England
Ophthalmology 109:942-7. 2002..To report the prevalence of ocular abnormalities in a group of children diagnosed with fetal anticonvulsant (FAC) syndrome(s)...
- Management of Marfan syndromeJohn C S Dean
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 9ZD
Heart 88:97-103. 2002
- Marfan syndrome: clinical diagnosis and managementJohn C S Dean
Department of Medical Genetics, NHS Grampian, Argyll House, Foresterhill, Aberdeen, AB25 2ZR, UK
Eur J Hum Genet 15:724-33. 2007..The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability...
- 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...
- A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesisJ C S Dean
University of Aberdeen, Aberdeen, Scotland, United Kingdom
Seizure 17:269-75. 2008..The MTHFR 677C>T polymorphism may be a susceptibility factor for epilepsy, and its higher frequency in women with epilepsy may contribute to the increased risk of malformation in children of women with epilepsy...
- Long term health and neurodevelopment in children exposed to antiepileptic drugs before birthJ C S Dean
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 2ZD, UK
J Med Genet 39:251-9. 2002..To investigate the frequency of neonatal and later childhood morbidity in children exposed to antiepileptic drugs in utero...
- Characteristics of fetal anticonvulsant syndrome associated autistic disorderA D Rasalam
Department of Child Health, University of Aberdeen, Royal Aberdeen Children s Hospital, Aberdeen AB25 2ZH, Scotland, UK
Dev Med Child Neurol 47:551-5. 2005..Fetal anticonvulsant syndrome associated autistic disorder is characterized by an even sex ratio, absence of regression or skill loss, and language delay in the absence of global delay...
- Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder?Adelene D Rasalam
Am J Med Genet A 132:209. 2005
- Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion
Department of Medical Genetics, St George s Medical School, Cranmer Terrace, London SW17ORE, UK
Hum Genet 111:421-7. 2002..The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome...
- A Schinzel-Giedion-like syndrome--a milder version or a separate condition?Shelagh Joss
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK
Clin Dysmorphol 11:271-5. 2002..We suggest that these twins have a previously undescribed Schinzel-Giedion like syndrome...
- Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore
Clinical Epidemiology Unit, Memorial University, St John s, Newfoundland, Canada
Am J Med Genet A 132:352-60. 2005..The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs...
- Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathyEmma E Hobson
Department of Clinical Genetics, St Mary s Hospital, Hathersage Road, Manchester, M13 0JH, UK
Eur J Pediatr 164:655-9. 2005..The diagnosis has enabled the couple to access prenatal testing in a subsequent pregnancy...