PubMed

Mutation of the Variant alpha-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia.

Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E.

Am J Hum Genet. 2009 Nov;85(5):737-44. Epub 2009 Nov 5.PMID: 19896110 [PubMed - in process]Related articles

Shadow autozygosity mapping by linkage exclusion (SAMPLE): A simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA.

Hum Mutat. 2009 Aug 14. [Epub ahead of print]PMID: 19842213 [PubMed - as supplied by publisher]Related articles

Inferring relative proportions of DNA variants from sequencing electropherograms.

Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT.

Bioinformatics. 2009 Oct 9. [Epub ahead of print]PMID: 19819885 [PubMed - as supplied by publisher]Related articles

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.

Nat Genet. 2009 Jul;41(7):829-32. Epub 2009 Jun 14.PMID: 19525956 [PubMed - indexed for MEDLINE]Related articles

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT.

Hum Mutat. 2009 Jun;30(6):960-7.PMID: 19405095 [PubMed - indexed for MEDLINE]Related articles

Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme.

Diggle CP, Shires M, Leitch D, Brooke D, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT.

J Histochem Cytochem. 2009 Aug;57(8):763-74. Epub 2009 Apr 13.PMID: 19365088 [PubMed - indexed for MEDLINE]Related articles

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE, De Vos M, Talati N, Abdollahi MR, Taylor GR, Meyer E, Williams D, Maher ER, Setna F, Nazir K, Hussaini S, Jafri H, Rashid Y, Sheridan E, Bonthron DT.

Hum Mutat. 2009 May;30(5):E629-39.PMID: 19309689 [PubMed - indexed for MEDLINE]Related articles

Structures of alternatively spliced isoforms of human ketohexokinase.

Trinh CH, Asipu A, Bonthron DT, Phillips SE.

Acta Crystallogr D Biol Crystallogr. 2009 Mar;65(Pt 3):201-11. Epub 2009 Feb 20.PMID: 19237742 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT.

Nat Genet. 2008 Jun;40(6):789-93. Epub 2008 May 25. Erratum in: Nat Genet. 2008 Jul;40(7):927. PMID: 18500342 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.PMID: 17846997 [PubMed - indexed for MEDLINE]Related articlesFree article

Atypical Takayasu arteritis: a family with five affected siblings.

Jeeva I, Sajid J, Ali O, Bonthron DT, Frossard PM.

Med Sci Monit. 2007 Aug;13(8):CS101-5.PMID: 17660729 [PubMed - indexed for MEDLINE]Related articlesFree article

Sequence analysis and editing for bisulphite genomic sequencing projects.

Carr IM, Valleley EM, Cordery SF, Markham AF, Bonthron DT.

Nucleic Acids Res. 2007;35(10):e79. Epub 2007 May 21.PMID: 17517768 [PubMed - indexed for MEDLINE]Related articlesFree article

Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.

Valleley EM, Cordery SF, Bonthron DT.

Hum Mol Genet. 2007 Apr 15;16(8):972-81. Epub 2007 Mar 6.PMID: 17341487 [PubMed - indexed for MEDLINE]Related articlesFree article

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hayward BE, De Vos M, Valleley EM, Charlton RS, Taylor GR, Sheridan E, Bonthron DT.

Hum Mutat. 2007 May;28(5):424-30.PMID: 17253626 [PubMed - indexed for MEDLINE]Related articles

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT.

Hum Mutat. 2006 Oct;27(10):1041-6.PMID: 16941472 [PubMed - indexed for MEDLINE]Related articles

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP.

Nat Genet. 2006 Aug;38(8):910-6. Epub 2006 Jul 16.PMID: 16845400 [PubMed - indexed for MEDLINE]Related articles

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T.

Nat Genet. 2006 Aug;38(8):917-20. Epub 2006 Jul 16.PMID: 16845398 [PubMed - indexed for MEDLINE]Related articles

PMS2 mutations in childhood cancer.

De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E.

J Natl Cancer Inst. 2006 Mar 1;98(5):358-61.PMID: 16507833 [PubMed - indexed for MEDLINE]Related articlesFree article

PMS2 mutations in childhood cancer.

Bonthron DT, Hayward BE, De Vos M, Sheridan E.

Gut. 2005 Dec;54(12):1821. No abstract available. PMID: 16284300 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

de Vos M, Hayward B, Bonthron DT, Sheridan E.

Biochem Soc Trans. 2005 Aug;33(Pt 4):718-20. Review.PMID: 16042583 [PubMed - indexed for MEDLINE]Related articles

PMS2 mutations in HNPCC.

Hayward BE, De Vos M, Sheridan E, Bonthron DT.

Clin Genet. 2004 Dec;66(6):566-7; author reply 568. No abstract available. PMID: 15521988 [PubMed - indexed for MEDLINE]Related articles

XX/XY chimaerism after IVF.

Bonthron DT.

Prenat Diagn. 2004 Jul;24(7):578. No abstract available. PMID: 15300756 [PubMed - indexed for MEDLINE]Related articles

Expression, purification and catalytic activity of Lupinus luteus asparagine beta-amidohydrolase and its Escherichia coli homolog.

Borek D, Michalska K, Brzezinski K, Kisiel A, Podkowinski J, Bonthron DT, Krowarsch D, Otlewski J, Jaskolski M.

Eur J Biochem. 2004 Aug;271(15):3215-26.PMID: 15265041 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.

Am J Hum Genet. 2004 May;74(5):954-64. Epub 2004 Apr 7.PMID: 15077197 [PubMed - indexed for MEDLINE]Related articlesFree article

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA.

J Med Genet. 2003 Sep;40(9):685-9. Review. No abstract available. PMID: 12960215 [PubMed - indexed for MEDLINE]Related articlesFree article

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.

Asipu A, Hayward BE, O'Reilly J, Bonthron DT.

Diabetes. 2003 Sep;52(9):2426-32.PMID: 12941785 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of SATB2 as the cleft palate gene on 2q32-q33.

FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT.

Hum Mol Genet. 2003 Oct 1;12(19):2491-501. Epub 2003 Jul 29.PMID: 12915443 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians.

Veiga-da-Cunha M, Delplanque J, Gillain A, Bonthron DT, Boutin P, Van Schaftingen E, Froguel P.

Diabetologia. 2003 May;46(5):704-11. Epub 2003 May 9.PMID: 12739015 [PubMed - indexed for MEDLINE]Related articles

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

Batstone PJ, Simpson S, Bonthron DT, Keng WT, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D.

Am J Med Genet A. 2003 Apr 30;118A(3):241-6.PMID: 12673654 [PubMed - indexed for MEDLINE]Related articles

Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis.

Rajgopal A, Carr IM, Leek JP, Hodge D, Bell SM, Roberts P, Horgan K, Bonthron DT, Selby PJ, Markham AF, MacLennan KA.

Cancer Genet Cytogenet. 2003 Apr 1;142(1):46-50.PMID: 12660032 [PubMed - indexed for MEDLINE]Related articles

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.

Hayward BE, De Vos M, Judson H, Hodge D, Huntriss J, Picton HM, Sheridan E, Bonthron DT.

BMC Genet. 2003 Jan 20;4:2. Epub 2003 Jan 20.PMID: 12546714 [PubMed - indexed for MEDLINE]Related articlesFree article

GNAS1 mutations and progressive osseous heteroplasia.

Ahmed SF, Barr DG, Bonthron DT.

N Engl J Med. 2002 May 23;346(21):1669-71. No abstract available. PMID: 12024004 [PubMed - indexed for MEDLINE]Related articles

A global disorder of imprinting in the human female germ line.

Judson H, Hayward BE, Sheridan E, Bonthron DT.

Nature. 2002 Apr 4;416(6880):539-42.PMID: 11932746 [PubMed - indexed for MEDLINE]Related articles

Expression, purification and preliminary crystallographic studies of human ketohexokinase.

Kozak M, Hayward B, Borek D, Bonthron DT, Jaskólski M.

Acta Crystallogr D Biol Crystallogr. 2001 Apr;57(Pt 4):586-8.PMID: 11264590 [PubMed - indexed for MEDLINE]Related articles

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.

Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT.

J Clin Invest. 2001 Mar;107(6):R31-6.PMID: 11254676 [PubMed - indexed for MEDLINE]Related articlesFree article

Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus.

Li T, Vu TH, Zeng ZL, Nguyen BT, Hayward BE, Bonthron DT, Hu JF, Hoffman AR.

Genomics. 2000 Nov 1;69(3):295-304.PMID: 11056047 [PubMed - indexed for MEDLINE]Related articles

Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13.

Bonthron DT, Hayward BE, Moran V, Strain L.

Hum Genet. 2000 Aug;107(2):165-75.PMID: 11030415 [PubMed - indexed for MEDLINE]Related articles

Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene.

Judson H, van Roy N, Strain L, Vandesompele J, Van Gele M, Speleman F, Bonthron DT.

Hum Genet. 2000 Apr;106(4):406-13.PMID: 10830907 [PubMed - indexed for MEDLINE]Related articles

An imprinted antisense transcript at the human GNAS1 locus.

Hayward BE, Bonthron DT.

Hum Mol Genet. 2000 Mar 22;9(5):835-41.PMID: 10749992 [PubMed - indexed for MEDLINE]Related articlesFree article

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.

Kamiya M, Judson H, Okazaki Y, Kusakabe M, Muramatsu M, Takada S, Takagi N, Arima T, Wake N, Kamimura K, Satomura K, Hermann R, Bonthron DT, Hayashizaki Y.

Hum Mol Genet. 2000 Feb 12;9(3):453-60.PMID: 10655556 [PubMed - indexed for MEDLINE]Related articlesFree article

Complex patterns of intragenic polymorphism at the PDGFA locus.

Bonthron DT, Smith SJ, Campbell R.

Hum Genet. 1999 Nov;105(5):452-9.PMID: 10598812 [PubMed - indexed for MEDLINE]Related articles

A locus for isolated cleft palate, located on human chromosome 2q32.

Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR.

Am J Hum Genet. 1999 Aug;65(2):387-96.PMID: 10417281 [PubMed - indexed for MEDLINE]Related articlesFree article

GNAS1 mutational analysis in pseudohypoparathyroidism.

Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DG, Kelnar CJ, Thakker RV.

Clin Endocrinol (Oxf). 1998 Oct;49(4):525-31.PMID: 9876352 [PubMed - indexed for MEDLINE]Related articles

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Hayward BE, Moran V, Strain L, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80.PMID: 9860993 [PubMed - indexed for MEDLINE]Related articlesFree article

Structure and alternative splicing of the ketohexokinase gene.

Hayward BE, Bonthron DT.

Eur J Biochem. 1998 Oct 1;257(1):85-91.PMID: 9799106 [PubMed - indexed for MEDLINE]Related articlesFree article

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT.

Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10038-43.PMID: 9707596 [PubMed - indexed for MEDLINE]Related articlesFree article

Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.

Bonthron DT, Dunlop N, Barr DG, El Sanousi AA, Al-Gazali LI.

J Med Genet. 1998 Apr;35(4):288-92.PMID: 9598721 [PubMed - indexed for MEDLINE]Related articlesFree article

Organization of the human glucokinase regulator gene GCKR.

Hayward BE, Dunlop N, Intody S, Leek JP, Markham AF, Warner JP, Bonthron DT.

Genomics. 1998 Apr 1;49(1):137-42.PMID: 9570959 [PubMed - indexed for MEDLINE]Related articles

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, Bessley C, Shanske S, DiMauro S, Goto YI, Hirschhorn R.

Biochem Biophys Res Commun. 1998 Mar 27;244(3):921-7.PMID: 9535769 [PubMed - indexed for MEDLINE]Related articles

cDNA cloning, genomic organization, and chromosomal localization of a novel human gene that encodes a kinesin-related protein highly similar to mouse Kif3C.

Telford EA, Wightman P, Leek J, Markham AF, Lench NJ, Bonthron DT.

Biochem Biophys Res Commun. 1998 Jan 14;242(2):407-12.PMID: 9446808 [PubMed - indexed for MEDLINE]Related articles