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Items: 1 to 50 of 122

1.

Revision of the Nearctic species of the genus Iphthiminus Spilman (Coleoptera: Tenebrionidae).

Gardiner RM, Pollock DA.

Zootaxa. 2015 Nov 26;4048(3):352-91. doi: 10.11646/zootaxa.4048.3.2.

PMID:
26624753
2.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis ML, Guerrini R, Kjeldsen MJ, Nabbout R, Nashef L, Sander T, Sirén A, Wirrell E, McKeigue P, Robinson R, Gardiner RM, Everett KV.

Epilepsy Res. 2009 Dec;87(2-3):247-55. doi: 10.1016/j.eplepsyres.2009.09.010. Epub 2009 Oct 17.

3.

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.

Everett KV, Chioza BA, Georgoula C, Reece A, Gardiner RM, Chung EM.

Hum Genet. 2009 Dec;126(6):819-31. doi: 10.1007/s00439-009-0735-5.

PMID:
19701773
4.

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM.

Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5.

5.

Competency domains in an undergraduate Objective Structured Clinical Examination: their impact on compensatory standard setting.

Reece A, Chung EM, Gardiner RM, Williams SE.

Med Educ. 2008 Jun;42(6):600-6. doi: 10.1111/j.1365-2923.2008.03021.x.

PMID:
18482091
6.

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

Everett KV, Capon F, Georgoula C, Chioza BA, Reece A, Jaswon M, Pierro A, Puri P, Gardiner RM, Chung EM.

Eur J Hum Genet. 2008 Sep;16(9):1151-4. doi: 10.1038/ejhg.2008.86. Epub 2008 May 14.

7.

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM.

Am J Hum Genet. 2008 Mar;82(3):756-62. doi: 10.1016/j.ajhg.2007.12.023. Epub 2008 Feb 28.

8.

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.

Neuron. 2006 Dec 7;52(5):767-74.

9.

Exploration of the genetic architecture of idiopathic generalized epilepsies.

Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud'homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, Elger CE, Weber YG, Lerche H, Nürnberg P, Kron KL, Scheffer IE, Mulley JC, Berkovic SF, Sander T.

Epilepsia. 2006 Oct;47(10):1682-90.

10.

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis M, Heils A, Kjeldsen M, Larsson K, Lehesjoki AE, Nabbout R, Olsson I, Sander T, Sirén A, Robinson R, Rees M, Gardiner RM.

Epilepsy Res. 2006 May;69(2):177-81. Epub 2006 Feb 28.

PMID:
16504478
11.

Monorail/Foxa2 regulates floorplate differentiation and specification of oligodendrocytes, serotonergic raphé neurones and cranial motoneurones.

Norton WH, Mangoli M, Lele Z, Pogoda HM, Diamond B, Mercurio S, Russell C, Teraoka H, Stickney HL, Rauch GJ, Heisenberg CP, Houart C, Schilling TF, Frohnhoefer HG, Rastegar S, Neumann CJ, Gardiner RM, Strähle U, Geisler R, Rees M, Talbot WS, Wilson SW.

Development. 2005 Feb;132(4):645-58.

12.

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.

Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EM, Mitchison HM.

J Med Genet. 2004 Mar;41(3):233-40. No abstract available.

13.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
14.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE.

Hum Mutat. 2003 Jul;22(1):35-42.

PMID:
12815591
15.

Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.

Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Riggio C, Bianchi A, Zara F, Rudolf G, Picard F, Bulteau C, Kaminska A, Cieuta C, Prud'homme JF, Dulac O, Bate L, Robinson R, Gardiner RM, Covanis A, de Haan GJ, Janssen GA, van Erp MG, Boezeman EH, Lindhout D, Heils A, Nürnberg P, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy.

Epilepsia. 2003 Jan;44(1):32-9.

16.

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.

Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Nabbout-Tarantino R, Prud'homme JF, Dulac O, Bate L, Gardiner RM, Lindhout D, Wienker TF, Janz D, Sander T; European Consortium on the Genetics of Idiopathic Generalized Epilepsy.

Epilepsy Res. 2002 Sep;51(1-2):23-9.

PMID:
12350381
17.

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.

Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Prud'homme JF, Dulac O, Bate L, Gardiner RM, de Haan GJ, Janssen GA, Witte J, Halley DJ, Lindhout D, Wienker TF, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy.

Am J Med Genet. 2002 Aug 8;114(6):673-8.

PMID:
12210286
18.

Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.

Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A.

J Clin Endocrinol Metab. 2002 Jul;87(7):3344-50.

PMID:
12107247
19.

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM.

Epilepsy Res. 2002 Apr;49(2):157-72.

PMID:
12049804
20.

The Human Genome Project: the next decade.

Gardiner RM.

Arch Dis Child. 2002 Jun;86(6):389-91. No abstract available.

21.

Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM.

Adv Neurol. 2002;89:211-5. Review. No abstract available.

PMID:
11968447
22.

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.

Robinson R, Taske N, Sander T, Heils A, Whitehouse W, Goutières F, Aicardi J, Lehesjoki AE, Siren A, Laue Friis M, Kjeldsen MJ, Panayiotopoulos C, Kennedy C, Ferrie C, Rees M, Gardiner RM.

Epilepsy Res. 2002 Feb;48(3):169-79.

PMID:
11904235
23.

Analysis of candidate genes in the CLN6 critical region using in silico cloning.

Sharp JD, Wheeler RB, Schultz RA, Joslin JM, Mole SE, Williams RE, Gardiner RM.

Eur J Paediatr Neurol. 2001;5 Suppl A:29-31.

PMID:
11589002
24.

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE.

Eur J Paediatr Neurol. 2001;5 Suppl A:21-7.

PMID:
11589000
25.

Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells.

Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, Brodbeck J, Canti C, Meir A, Page KM, Kusumi K, Perez-Reyes E, Lander ES, Frankel WN, Gardiner RM, Dolphin AC, Rees M.

J Neurosci. 2001 Aug 15;21(16):6095-104.

26.

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE.

Genomics. 2001 Feb 15;72(1):21-33.

PMID:
11247663
27.

The molecular genetic basis of the neuronal ceroid lipofuscinoses.

Gardiner RM.

Neurol Sci. 2000;21(3 Suppl):S15-9. Review.

PMID:
11073223
28.

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE.

Cytogenet Cell Genet. 2000;90(1-2):119-22.

PMID:
11060460
29.

Impact of our understanding of the genetic aetiology of epilepsy.

Gardiner RM.

J Neurol. 2000 May;247(5):327-34. Review.

PMID:
10896263
30.

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A.

Hum Mol Genet. 2000 Jun 12;9(10):1465-72.

PMID:
10888596
31.

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.

Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE.

Eur J Hum Genet. 2000 Feb;8(2):109-18.

32.

A locus for primary ciliary dyskinesia maps to chromosome 19q.

Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E.

J Med Genet. 2000 Apr;37(4):241-4.

33.

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts.

Mole SE, Gardiner RM, Goebel HH.

Eur J Paediatr Neurol. 1998;2(2):A1-17. No abstract available.

PMID:
10724106
34.

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].

Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL.

Neurobiol Dis. 1999 Oct;6(5):321-34. Erratum in: Neurobiol Dis 2000 Apr;7(2):127.

PMID:
10527801
35.

Genetic basis of the human epilepsies.

Gardiner RM.

Epilepsy Res. 1999 Sep;36(2-3):91-5. Review.

PMID:
10515157
36.

The molecular genetic bases of the progressive myoclonus epilepsies.

Serratosa JM, Gardiner RM, Lehesjoki AE, Pennacchio LA, Myers RM.

Adv Neurol. 1999;79:383-98. Review.

PMID:
10514828
37.

Studies of the lethargic (lh/lh) mouse model of absence seizures: regulatory mechanisms and identification of the lh gene.

Hosford DA, Lin FH, Wang Y, Caddick SJ, Rees M, Parkinson NJ, Barclay J, Cox RD, Gardiner RM, Hosford DA, Denton P, Wang Y, Seldin MF, Chen B.

Adv Neurol. 1999;79:239-52. Review.

PMID:
10514818
38.

The European Concerted Action NCL Clinical Case Registry.

Williams RE, Gardiner RM, Goebel HH.

Mol Genet Metab. 1999 Apr;66(4):407-8.

PMID:
10191138
39.

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

Wheeler RB, Sharp JD, Mitchell WA, Bate SL, Williams RE, Lake BD, Gardiner RM.

Mol Genet Metab. 1999 Apr;66(4):337-8.

PMID:
10191125
40.

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Fox M, Gardiner RM, Williams RE.

Mol Genet Metab. 1999 Apr;66(4):329-31.

PMID:
10191123
41.

A murine model for juvenile NCL: gene targeting of mouse Cln3.

Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM.

Mol Genet Metab. 1999 Apr;66(4):309-13.

PMID:
10191119
42.

The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM.

Mol Genet Metab. 1999 Apr;66(4):245-7.

PMID:
10191109
43.

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

Lauronen L, Munroe PB, Järvelä I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Häkkinen AM, Kirveskari E, Santavuori P.

Neurology. 1999 Jan 15;52(2):360-5.

PMID:
9932957
44.

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E.

Nat Genet. 1999 Jan;21(1):142-4.

PMID:
9916809
45.

Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.

Saxena A, Hanukoglu I, Strautnieks SS, Thompson RJ, Gardiner RM, Hanukoglu A.

Biochem Biophys Res Commun. 1998 Nov 9;252(1):208-13.

PMID:
9813171
46.

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ.

Nat Genet. 1998 Nov;20(3):233-8.

PMID:
9806540
47.

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

Munroe PB, Greene ND, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JB, Crow YJ.

J Med Genet. 1998 Sep;35(9):790. No abstract available.

48.

Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans.

Munroe PB, Strautnieks SS, Farrall M, Daniel HI, Lawson M, DeFreitas P, Fogarty P, Gardiner RM, Caulfield M.

Am J Hypertens. 1998 Aug;11(8 Pt 1):942-5.

PMID:
9715786
49.

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.

Lewis TM, Sivilotti LG, Colquhoun D, Gardiner RM, Schoepfer R, Rees M.

J Physiol. 1998 Feb 15;507 ( Pt 1):25-40.

50.

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM.

Hum Mol Genet. 1998 Feb;7(2):291-7. Erratum in: Hum Mol Genet 1998 Apr;7(4):765.

PMID:
9425237

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