PubMed

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.

J Med Genet. 2009 Jul;46(7):431-7. Epub 2009 May 13.PMID: 19443465 [PubMed - indexed for MEDLINE]Related articles

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Upadhyaya M, Spurlock G, Kluwe L, Chuzhanova N, Bennett E, Thomas N, Guha A, Mautner V.

Neurogenetics. 2009 Jul;10(3):251-63. Epub 2009 Feb 17.PMID: 19221814 [PubMed - indexed for MEDLINE]Related articles

Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening.

Nair S, Phillips AO, Norton N, Spurlock G, Williams HJ, Craig KJ, Williams JD, Williams NM, Bowen T.

J Nephrol. 2008 May-Jun;21(3):400-5.PMID: 18587729 [PubMed - indexed for MEDLINE]Related articles

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V.

Hum Mutat. 2008 May 16;29(8):E103-E111. [Epub ahead of print]PMID: 18484666 [PubMed - as supplied by publisher]Related articles

Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report.

Stewart H, Bowker C, Edees S, Smalley S, Crocker M, Mechan D, Forrester N, Spurlock G, Upadhyaya M.

Am J Med Genet A. 2008 Jun 1;146A(11):1444-52.PMID: 18438896 [PubMed - indexed for MEDLINE]Related articles

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

Mantripragada KK, Spurlock G, Kluwe L, Chuzhanova N, Ferner RE, Frayling IM, Dumanski JP, Guha A, Mautner V, Upadhyaya M.

Clin Cancer Res. 2008 Feb 15;14(4):1015-24.PMID: 18281533 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype effects of CHRNA7, CNR1 and COMT in schizophrenia: interactions with tobacco and cannabis use.

Zammit S, Spurlock G, Williams H, Norton N, Williams N, O'Donovan MC, Owen MJ.

Br J Psychiatry. 2007 Nov;191:402-7.PMID: 17978319 [PubMed - indexed for MEDLINE]Related articlesFree article

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).

Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V.

Hum Mutat. 2008 Jan;29(1):74-82.PMID: 17960768 [PubMed - indexed for MEDLINE]Related articles

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types.

Spurlock G, Griffiths S, Uff J, Upadhyaya M.

Fam Cancer. 2007;6(4):463-71.PMID: 17551851 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

Kebudi R, Tuncer S, Upadhyaya M, Peksayar G, Spurlock G, Yazici H.

Pediatr Blood Cancer. 2008 Mar;50(3):713-5.PMID: 17514731 [PubMed - indexed for MEDLINE]Related articles

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.

Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M.

J Med Genet. 2007 Mar;44(3):215-8. Epub 2006 Sep 20.PMID: 16987949 [PubMed - indexed for MEDLINE]Related articles

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Upadhyaya M, Spurlock G, Majounie E, Griffiths S, Forrester N, Baser M, Huson SM, Gareth Evans D, Ferner R.

Hum Mutat. 2006 Jul;27(7):716.PMID: 16786508 [PubMed - indexed for MEDLINE]Related articles

Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia.

Norton N, Moskvina V, Morris DW, Bray NJ, Zammit S, Williams NM, Williams HJ, Preece AC, Dwyer S, Wilkinson JC, Spurlock G, Kirov G, Buckland P, Waddington JL, Gill M, Corvin AP, Owen MJ, O'Donovan MC.

Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):96-101.PMID: 16249994 [PubMed - indexed for MEDLINE]Related articles

Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1).

Williams NM, Preece A, Morris DW, Spurlock G, Bray NJ, Stephens M, Norton N, Williams H, Clement M, Dwyer S, Curran C, Wilkinson J, Moskvina V, Waddington JL, Gill M, Corvin AP, Zammit S, Kirov G, Owen MJ, O'Donovan MC.

Arch Gen Psychiatry. 2004 Apr;61(4):336-44.PMID: 15066891 [PubMed - indexed for MEDLINE]Related articlesFree article

Support for RGS4 as a susceptibility gene for schizophrenia.

Williams NM, Preece A, Spurlock G, Norton N, Williams HJ, McCreadie RG, Buckland P, Sharkey V, Chowdari KV, Zammit S, Nimgaonkar V, Kirov G, Owen MJ, O'Donovan MC.

Biol Psychiatry. 2004 Jan 15;55(2):192-5.PMID: 14732600 [PubMed - indexed for MEDLINE]Related articles

Screening the human protocadherin 8 (PCDH8) gene in schizophrenia.

Bray NJ, Kirov G, Owen RJ, Jacobsen NJ, Georgieva L, Williams HJ, Norton N, Spurlock G, Jones S, Zammit S, O'Donovan MC, Owen MJ.

Genes Brain Behav. 2002 Aug;1(3):187-91.PMID: 12884975 [PubMed - indexed for MEDLINE]Related articles

Association between PRODH and schizophrenia is not confirmed.

Williams HJ, Williams N, Spurlock G, Norton N, Ivanov D, McCreadie RG, Preece A, Sharkey V, Jones S, Zammit S, Nikolov I, Kehaiov I, Thapar A, Murphy KC, Kirov G, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2003 Jul;8(7):644-5. No abstract available. PMID: 12874599 [PubMed - indexed for MEDLINE]Related articles

Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia.

Williams HJ, Williams N, Spurlock G, Norton N, Zammit S, Kirov G, Owen MJ, O'Donovan MC.

Am J Med Genet B Neuropsychiatr Genet. 2003 Jul 1;120B(1):42-6.PMID: 12815738 [PubMed - indexed for MEDLINE]Related articles

Mutation screening of the Homer gene family and association analysis in schizophrenia.

Norton N, Williams HJ, Williams NM, Spurlock G, Zammit S, Jones G, Jones S, Owen R, O'Donovan MC, Owen MJ.

Am J Med Genet B Neuropsychiatr Genet. 2003 Jul 1;120B(1):18-21.PMID: 12815733 [PubMed - indexed for MEDLINE]Related articles

Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia.

Williams NM, Preece A, Spurlock G, Norton N, Williams HJ, Zammit S, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2003 May;8(5):485-7.PMID: 12808428 [PubMed - indexed for MEDLINE]Related articles

Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.

Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, Kirov G, Nikolov I, Georgieva L, Jones S, Cardno AG, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2002;7(10):1092-100.PMID: 12476324 [PubMed - indexed for MEDLINE]Related articlesFree article

Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.

Williams NM, Bowen T, Spurlock G, Norton N, Williams HJ, Hoogendoorn B, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2002;7(5):508-14.PMID: 12082569 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.

Anney RJ, Rees MI, Bryan E, Spurlock G, Williams N, Norton N, Williams H, Cardno A, Zammit S, Jones S, Jones G, Hoogendoorn B, Smith K, Hamshere ML, Coleman S, Guy C, O'Donovan MC, Owen MJ, Buckland PR.

Mol Psychiatry. 2002;7(5):493-502.PMID: 12082567 [PubMed - indexed for MEDLINE]Related articlesFree article

Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.

Norton N, Williams NM, Williams HJ, Spurlock G, Kirov G, Morris DW, Hoogendoorn B, Owen MJ, O'Donovan MC.

Hum Genet. 2002 May;110(5):471-8. Epub 2002 Mar 23.PMID: 12073018 [PubMed - indexed for MEDLINE]Related articles

Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease.

Abraham R, Myers A, Wavrant-DeVrieze F, Hamshere ML, Thomas HV, Marshall H, Compton D, Spurlock G, Turic D, Hoogendoorn B, Kwon JM, Petersen RC, Tangalos E, Norton J, Morris JC, Bullock R, Liolitsa D, Lovestone S, Hardy J, Goate A, O'Donovan M, Williams J, Owen MJ, Jones L.

Hum Genet. 2001 Dec;109(6):646-52. Epub 2001 Nov 1.PMID: 11810277 [PubMed - indexed for MEDLINE]Related articles

Mutation screening of the KCNN3 gene reveals a rare frameshift mutation.

Bowen T, Williams N, Norton N, Spurlock G, Wittekindt OH, Morris-Rosendahl DJ, Williams H, Brzustowicz L, Hoogendoorn B, Zammit S, Jones G, Sanders RD, Jones LA, McCarthy G, Jones S, Bassett A, Cardno AG, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2001 May;6(3):259-60. No abstract available. PMID: 11326292 [PubMed - indexed for MEDLINE]Related articlesFree article

Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.

Hoogendoorn B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, Austin J, Stephens MK, Buckland PR, Owen MJ, O'Donovan MC.

Hum Genet. 2000 Nov;107(5):488-93.PMID: 11140947 [PubMed - indexed for MEDLINE]Related articles

The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia.

Austin J, Buckland P, Cardno AG, Williams N, Spurlock G, Hoogendoorn B, Zammit S, Jones G, Sanders R, Jones L, McCarthy G, Jones S, Bray NJ, McGuffin P, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2000 Sep;5(5):552-7.PMID: 11032391 [PubMed - indexed for MEDLINE]Related articles

No evidence for association between a non-synonymous polymorphism in the gene encoding human metabotropic glutamate receptor 7 and schizophrenia.

Bray NJ, Williams NM, Bowen T, Cardno AG, Gray M, Jones LA, Murphy KC, Sanders RD, Spurlock G, Odonovan MC, Owen MJ.

Psychiatr Genet. 2000 Jun;10(2):83-6.PMID: 10994646 [PubMed - indexed for MEDLINE]Related articles

Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31.

McEntagart M, Spurlock G, Jackson C, Harper P, Rahman N.

J Med Genet. 2000 Aug;37(8):E14. No abstract available. PMID: 10922394 [PubMed - indexed for MEDLINE]Related articlesFree article

Comparative sequencing of the proneurotensin gene and association studies in schizophrenia.

Austin J, Hoogendoorn B, Buckland P, Speight G, Cardno A, Bowen T, Williams N, Spurlock G, Sanders R, Jones L, Murphy K, McCarthy G, McGuffin P, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2000 Mar;5(2):208-12.PMID: 10822351 [PubMed - indexed for MEDLINE]Related articles

Linkage studies of bipolar disorder with chromosome 18 markers.

Bowen T, Kirov G, Gill M, Spurlock G, Vallada HP, Murray RM, McGuffin P, Collier DA, Owen MJ, Craddock N.

Am J Med Genet. 1999 Oct 15;88(5):503-9.PMID: 10490707 [PubMed - indexed for MEDLINE]Related articles

Autosome search for schizophrenia susceptibility genes in multiply affected families.

Rees MI, Fenton I, Williams NM, Holmans P, Norton N, Cardno A, Asherson P, Spurlock G, Roberts E, Parfitt E, Mant R, Vallada H, Dawson E, Li MW, Collier DA, Powell JF, Nanko S, Gill M, McGuffin P, Owen MJ.

Mol Psychiatry. 1999 Jul;4(4):353-9.PMID: 10483052 [PubMed - indexed for MEDLINE]Related articles

CAG repeat length in the hKCa3 gene and symptom dimensions in schizophrenia.

Cardno AG, Bowen T, Guy CA, Jones LA, McCarthy G, Williams NM, Murphy KC, Spurlock G, Gray M, Sanders RD, Craddock N, McGuffin P, Owen MJ, O'Donovan MC.

Biol Psychiatry. 1999 Jun 15;45(12):1592-6.PMID: 10376120 [PubMed - indexed for MEDLINE]Related articles

A full genome scan for late onset Alzheimer's disease.

Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin MC, Shears S, Roehl K, Booth J, Van Voorst W, Ramic D, Williams J, Goate A, Hardy J, Owen MJ.

Hum Mol Genet. 1999 Feb;8(2):237-45.PMID: 9931331 [PubMed - indexed for MEDLINE]Related articlesFree article

Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia.

Bowen T, Guy CA, Craddock N, Cardno AG, Williams NM, Spurlock G, Murphy KC, Jones LA, Gray M, Sanders RD, McCarthy G, Chandy KG, Fantino E, Kalman K, Gutman GA, Gargus JJ, Williams J, McGuffin P, Owen MJ, O'Donovan MC.

Mol Psychiatry. 1998 May;3(3):266-9.PMID: 9672903 [PubMed - indexed for MEDLINE]Related articles

A meta-analysis and transmission disequilibrium study of association between the dopamine D3 receptor gene and schizophrenia.

Williams J, Spurlock G, Holmans P, Mant R, Murphy K, Jones L, Cardno A, Asherson P, Blackwood D, Muir W, Meszaros K, Aschauer H, Mallet J, Laurent C, Pekkarinen P, Seppala J, Stefanis CN, Papadimitriou GN, Macciardi F, Verga M, Pato C, Azevedo H, Crocq MA, Gurling H, Owen MJ, et al.

Mol Psychiatry. 1998 Mar;3(2):141-9. Erratum in: Mol Psychiatry 1998 Sep;3(5):458. PMID: 9577838 [PubMed - indexed for MEDLINE]Related articles

European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms.

Spurlock G, Williams J, McGuffin P, Aschauer HN, Lenzinger E, Fuchs K, Sieghart WC, Meszaros K, Fathi N, Laurent C, Mallet J, Macciardi F, Pedrini S, Gill M, Hawi Z, Gibson S, Jazin EE, Yang HT, Adolfsson R, Pato CN, Dourado AM, Owen MJ.

Am J Med Genet. 1998 Feb 7;81(1):24-8.PMID: 9514583 [PubMed - indexed for MEDLINE]Related articles

Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine.

Arranz MJ, Munro J, Owen MJ, Spurlock G, Sham PC, Zhao J, Kirov G, Collier DA, Kerwin RW.

Mol Psychiatry. 1998 Jan;3(1):61-6.PMID: 9491814 [PubMed - indexed for MEDLINE]Related articles

A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter.

Spurlock G, Heils A, Holmans P, Williams J, D'Souza UM, Cardno A, Murphy KC, Jones L, Buckland PR, McGuffin P, Lesch KP, Owen MJ.

Mol Psychiatry. 1998 Jan;3(1):42-9.PMID: 9491812 [PubMed - indexed for MEDLINE]Related articles

No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia.

Jones AL, Middle F, Guy C, Spurlock G, Cairns NJ, McGuffin P, Craddock N, Owen M, O'Donovan MC.

Mol Psychiatry. 1997 Oct-Nov;2(6):478-82.PMID: 9399691 [PubMed - indexed for MEDLINE]Related articles

Linkage study of chromosome 6p in sib-pairs with schizophrenia.

Daniels JK, Spurlock G, Williams NM, Cardno AG, Jones LA, Murphy KC, Asherson P, Holmans P, Fenton I, McGuffin P, Owen MJ.

Am J Med Genet. 1997 May 31;74(3):319-23.PMID: 9184317 [PubMed - indexed for MEDLINE]Related articles

Tryptophan hydroxylase and catechol-O-methyltransferase gene polymorphisms: relationships to monoamine metabolite concentrations in CSF of healthy volunteers.

Jönsson EG, Goldman D, Spurlock G, Gustavsson JP, Nielsen DA, Linnoila M, Owen MJ, Sedvall GC.

Eur Arch Psychiatry Clin Neurosci. 1997;247(6):297-302.PMID: 9477008 [PubMed - indexed for MEDLINE]Related articles

Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptamine type 2a-receptor gene. European Multicentre Association Study of Schizophrenia (EMASS) Group.

Williams J, Spurlock G, McGuffin P, Mallet J, Nöthen MM, Gill M, Aschauer H, Nylander PO, Macciardi F, Owen MJ.

Lancet. 1996 May 11;347(9011):1294-6.PMID: 8622505 [PubMed - indexed for MEDLINE]Related articles

No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity.

Daniels JK, Williams NM, Williams J, Jones LA, Cardno AG, Murphy KC, Spurlock G, Riley B, Scambler P, Asherson P, McGuffin P, Owen MJ.

Am J Psychiatry. 1996 Feb;153(2):268-70.PMID: 8561211 [PubMed - indexed for MEDLINE]Related articles

Amphetamine and vigabatrin down regulate aromatic L-amino acid decarboxylase mRNA levels.

Buckland PR, Spurlock G, McGuffin P.

Brain Res Mol Brain Res. 1996 Jan;35(1-2):69-76.PMID: 8717341 [PubMed - indexed for MEDLINE]Related articles

Lack of effect of antipsychotic and antidepressant drugs on glutamate receptor mRNA levels in rat brains.

Oretti RG, Spurlock G, Buckland PR, McGuffin P.

Neurosci Lett. 1994 Aug 15;177(1-2):39-43.PMID: 7824178 [PubMed - indexed for MEDLINE]Related articles

Lack of effect of antidepressant drugs on the levels of mRNAs encoding serotonergic receptors, synthetic enzymes and 5HT transporter.

Spurlock G, Buckland P, O'Donovan M, McGuffin P.

Neuropharmacology. 1994 Mar-Apr;33(3-4):433-40.PMID: 7984281 [PubMed - indexed for MEDLINE]Related articles

Amyloid precursor protein mRNA levels in the mononuclear blood cells of Alzheimer's and Down's patients.

Buckland P, Tidmarsh S, Spurlock G, Kaiser F, Yates M, O'Mahony G, McGuffin P.

Brain Res Mol Brain Res. 1993 Jun;18(4):316-20.PMID: 8326826 [PubMed - indexed for MEDLINE]Related articles

Bi-directional changes in the levels of messenger RNAs encoding gamma-aminobutyric acidA receptor alpha subunits after flurazepam treatment.

O'Donovan MC, Buckland PR, Spurlock G, McGuffin P.

Eur J Pharmacol. 1992 Aug 3;226(4):335-41.PMID: 1327846 [PubMed - indexed for MEDLINE]Related articles