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    Results: 1 to 50 of 168

    1.

    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

    2.

    Primary microcephaly: do all roads lead to Rome?

    Thornton GK, Woods CG.

    Trends Genet. 2009 Nov;25(11):501-10. Epub 2009 Oct 21.PMID: 19850369 [PubMed - in process]Related articles

    3.

    Expanding CEP290 mutational spectrum in ciliopathies.

    Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

    Am J Med Genet A. 2009 Oct;149A(10):2173-80.PMID: 19764032 [PubMed - in process]Related articles

    4.

    A systems biology perspective on Nrf2-mediated antioxidant response.

    Zhang Q, Pi J, Woods CG, Andersen ME.

    Toxicol Appl Pharmacol. 2009 Aug 28. [Epub ahead of print]PMID: 19716833 [PubMed - as supplied by publisher]Related articles

    5.

    INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

    Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S.

    Nat Genet. 2009 Sep;41(9):1027-31. Epub 2009 Aug 9.PMID: 19668215 [PubMed - indexed for MEDLINE]Related articles

    6.

    ROS signaling, oxidative stress and Nrf2 in pancreatic beta-cell function.

    Pi J, Zhang Q, Fu J, Woods CG, Hou Y, Corkey BE, Collins S, Andersen ME.

    Toxicol Appl Pharmacol. 2009 Jun 6. [Epub ahead of print]PMID: 19501608 [PubMed - as supplied by publisher]Related articles

    7.

    Dose-dependent transitions in Nrf2-mediated adaptive response and related stress responses to hypochlorous acid in mouse macrophages.

    Woods CG, Fu J, Xue P, Hou Y, Pluta LJ, Yang L, Zhang Q, Thomas RS, Andersen ME, Pi J.

    Toxicol Appl Pharmacol. 2009 Jul 1;238(1):27-36. Epub 2009 Apr 17.PMID: 19376150 [PubMed - indexed for MEDLINE]Related articles

    8.

    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

    van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

    J Med Genet. 2009 Aug;46(8):511-23. Epub 2009 Apr 15.PMID: 19372089 [PubMed - indexed for MEDLINE]Related articles

    9.

    Phase I to II cross-induction of xenobiotic metabolizing enzymes: a feedforward control mechanism for potential hormetic responses.

    Zhang Q, Pi J, Woods CG, Andersen ME.

    Toxicol Appl Pharmacol. 2009 Jun 15;237(3):345-56. Epub 2009 Apr 14.PMID: 19371757 [PubMed - indexed for MEDLINE]Related articles

    10.

    Two novel SCN9A mutations causing insensitivity to pain.

    Nilsen KB, Nicholas AK, Woods CG, Mellgren SI, Nebuchennykh M, Aasly J.

    Pain. 2009 May;143(1-2):155-8. Epub 2009 Mar 21. Erratum in: Pain. 2009 Sep;145(1-2):264. PMID: 19304393 [PubMed - indexed for MEDLINE]Related articles

    11.

    Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

    Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER.

    PLoS Genet. 2009 Mar;5(3):e1000423. Epub 2009 Mar 20.PMID: 19300480 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Time-course comparison of xenobiotic activators of CAR and PPARalpha in mouse liver.

    Ross PK, Woods CG, Bradford BU, Kosyk O, Gatti DM, Cunningham ML, Rusyn I.

    Toxicol Appl Pharmacol. 2009 Mar 1;235(2):199-207. Epub 2008 Dec 24.PMID: 19136022 [PubMed - indexed for MEDLINE]Related articles

    13.

    The molecular landscape of ASPM mutations in primary microcephaly.

    Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.

    J Med Genet. 2009 Apr;46(4):249-53. Epub 2008 Nov 21.PMID: 19028728 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

    Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

    N Engl J Med. 2008 Oct 16;359(16):1685-99. Epub 2008 Sep 10.PMID: 18784092 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

    Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG.

    Am J Hum Genet. 2008 Aug;83(2):170-9.PMID: 18674751 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Hormesis and adaptive cellular control systems.

    Zhang Q, Pi J, Woods CG, Jarabek AM, Clewell HJ, Andersen ME.

    Dose Response. 2008 Mar 19;6(2):196-208.PMID: 18648578 [PubMed - in process]Related articlesFree article

    17.

    RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

    Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM.

    Clin Genet. 2008 Aug;74(2):164-70. Epub 2008 Jun 28.PMID: 18565097 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Activation of Nrf2-mediated oxidative stress response in macrophages by hypochlorous acid.

    Pi J, Zhang Q, Woods CG, Wong V, Collins S, Andersen ME.

    Toxicol Appl Pharmacol. 2008 Feb 1;226(3):236-43. Epub 2007 Sep 26.PMID: 17980396 [PubMed - indexed for MEDLINE]Related articles

    19.

    Time course investigation of PPARalpha- and Kupffer cell-dependent effects of WY-14,643 in mouse liver using microarray gene expression.

    Woods CG, Kosyk O, Bradford BU, Ross PK, Burns AM, Cunningham ML, Qu P, Ibrahim JG, Rusyn I.

    Toxicol Appl Pharmacol. 2007 Dec 15;225(3):267-77. Epub 2007 Sep 16.PMID: 17950772 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Epigenetic effects of the continuous exposure to peroxisome proliferator WY-14,643 in mouse liver are dependent upon peroxisome proliferator activated receptor alpha.

    Pogribny IP, Tryndyak VP, Woods CG, Witt SE, Rusyn I.

    Mutat Res. 2007 Dec 1;625(1-2):62-71. Epub 2007 May 18.PMID: 17586532 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    Exudative retinopathy in a girl with Alström syndrome due to a novel mutation.

    Gogi D, Bond J, Long V, Sheridan E, Woods CG.

    Br J Ophthalmol. 2007 Jul;91(7):983-4. No abstract available. PMID: 17576719 [PubMed - indexed for MEDLINE]Related articles

    22.

    Multicenter study of acetaminophen hepatotoxicity reveals the importance of biological endpoints in genomic analyses.

    Beyer RP, Fry RC, Lasarev MR, McConnachie LA, Meira LB, Palmer VS, Powell CL, Ross PK, Bammler TK, Bradford BU, Cranson AB, Cunningham ML, Fannin RD, Higgins GM, Hurban P, Kayton RJ, Kerr KF, Kosyk O, Lobenhofer EK, Sieber SO, Vliet PA, Weis BK, Wolfinger R, Woods CG, Freedman JH, Linney E, Kaufmann WK, Kavanagh TJ, Paules RS, Rusyn I, Samson LD, Spencer PS, Suk W, Tennant RJ, Zarbl H; Members of the Toxicogenomics Research Consortium.

    Toxicol Sci. 2007 Sep;99(1):326-37. Epub 2007 Jun 11.PMID: 17562736 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Genomic profiling in nuclear receptor-mediated toxicity.

    Woods CG, Heuvel JP, Rusyn I.

    Toxicol Pathol. 2007;35(4):474-94. Review.PMID: 17562482 [PubMed - indexed for MEDLINE]Related articles

    24.

    Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

    den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R.

    Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3.PMID: 17546029 [PubMed - indexed for MEDLINE]Related articles

    25.

    WY-14,643 induced cell proliferation and oxidative stress in mouse liver are independent of NADPH oxidase.

    Woods CG, Burns AM, Bradford BU, Ross PK, Kosyk O, Swenberg JA, Cunningham ML, Rusyn I.

    Toxicol Sci. 2007 Aug;98(2):366-74. Epub 2007 May 5.PMID: 17483499 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

    Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie).

    Hum Mutat. 2007 May;28(5):523-4.PMID: 17397051 [PubMed - indexed for MEDLINE]Related articles

    27.

    Sustained formation of alpha-(4-pyridyl-1-oxide)-N-tert-butylnitrone radical adducts in mouse liver by peroxisome proliferators is dependent upon peroxisome proliferator-activated receptor-alpha, but not NADPH oxidase.

    Woods CG, Burns AM, Maki A, Bradford BU, Cunningham ML, Connor HD, Kadiiska MB, Mason RP, Peters JM, Rusyn I.

    Free Radic Biol Med. 2007 Feb 1;42(3):335-42. Epub 2006 Nov 3.PMID: 17210446 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    An SCN9A channelopathy causes congenital inability to experience pain.

    Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG.

    Nature. 2006 Dec 14;444(7121):894-8.PMID: 17167479 [PubMed - indexed for MEDLINE]Related articles

    29.

    Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

    Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C.

    Nat Genet. 2006 Oct;38(10):1184-91. Epub 2006 Sep 10.PMID: 16964263 [PubMed - indexed for MEDLINE]Related articles

    30.

    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

    31.

    What primary microcephaly can tell us about brain growth.

    Cox J, Jackson AP, Bond J, Woods CG.

    Trends Mol Med. 2006 Aug;12(8):358-66. Epub 2006 Jul 10. Review.PMID: 16829198 [PubMed - indexed for MEDLINE]Related articles

    32.

    Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

    Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S.

    Am J Hum Genet. 2006 Aug;79(2):402-8. Epub 2006 Jun 23.PMID: 16826533 [PubMed - indexed for MEDLINE]Related articlesFree article

    33.

    Flies without centrioles.

    Basto R, Lau J, Vinogradova T, Gardiol A, Woods CG, Khodjakov A, Raff JW.

    Cell. 2006 Jun 30;125(7):1375-86.PMID: 16814722 [PubMed - indexed for MEDLINE]Related articles

    34.

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

    Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ.

    Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18. Erratum in: Nat Genet. 2006 Aug;38(8):957. PMID: 16783378 [PubMed - indexed for MEDLINE]Related articlesFree article

    35.

    Electron spin resonance and spin trapping technique provide direct evidence that edaravone prevents acute ischemia-reperfusion injury of the liver by limiting free radical-mediated tissue damage.

    Kono H, Woods CG, Maki A, Connor HD, Mason RP, Rusyn I, Fujii H.

    Free Radic Res. 2006 Jun;40(6):579-88.PMID: 16753835 [PubMed - indexed for MEDLINE]Related articles

    36.

    Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

    Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG.

    J Med Genet. 2006 Sep;43(9):750-4. Epub 2006 May 5.PMID: 16679491 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

    Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF.

    Am J Hum Genet. 2006 May;78(5):889-96. Epub 2006 Mar 21.PMID: 16642444 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Evolutionary Genetics: is brain evolution still continuing in modern humans?

    Stern R, Woods CG.

    Eur J Hum Genet. 2006 Jul;14(7):799-800. Epub 2006 Mar 29. No abstract available. PMID: 16570071 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

    Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG.

    Eur J Hum Genet. 2006 May;14(5):543-8.PMID: 16493448 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

    Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA.

    Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15.PMID: 16415887 [PubMed - indexed for MEDLINE]Related articles

    41.

    A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity.

    Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG, Markham AF, Cook GP.

    Blood. 2006 May 1;107(9):3665-8. Epub 2006 Jan 12.PMID: 16410452 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    Cytoskeletal genes regulating brain size.

    Bond J, Woods CG.

    Curr Opin Cell Biol. 2006 Feb;18(1):95-101. Epub 2005 Dec 6. Review.PMID: 16337370 [PubMed - indexed for MEDLINE]Related articles

    43.

    Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

    Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N, Woods CG, Pilz DT.

    Brain. 2006 Jan;129(Pt 1):272-7. Epub 2005 Nov 4.PMID: 16272165 [PubMed - indexed for MEDLINE]Related articlesFree article

    44.

    ASPM mutations identified in patients with primary microcephaly and seizures.

    Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.

    J Med Genet. 2005 Sep;42(9):725-9.PMID: 16141009 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

    Woods CG, Bond J, Enard W.

    Am J Hum Genet. 2005 May;76(5):717-28. Epub 2005 Mar 31. Review.PMID: 15806441 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

    Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG.

    Nat Genet. 2005 Apr;37(4):353-5. Epub 2005 Mar 27. Erratum in: Nat Genet. 2005 May;37(5):555. Lizarraga, Sophia [corrected to Lizarraga, Sofia B]. PMID: 15793586 [PubMed - indexed for MEDLINE]Related articles

    47.

    Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

    Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG.

    Ann Neurol. 2005 Apr;57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934. PMID: 15786477 [PubMed - indexed for MEDLINE]Related articles

    48.

    Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

    Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER.

    Nat Genet. 2005 Mar;37(3):221-3.PMID: 15696165 [PubMed - indexed for MEDLINE]Related articles

    49.

    The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

    Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Holland P, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G, Woods CG.

    J Med Genet. 2005 Feb;42(2):e10. No abstract available. PMID: 15689433 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

    Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF.

    BMC Neurol. 2004 Nov 30;4(1):20.PMID: 15571623 [PubMed - indexed for MEDLINE]Related articlesFree article

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