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Results: 19

1.

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S.

J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. No abstract available.

2.

Action potential energetics at the organismal level reveal a trade-off in efficiency at high firing rates.

Lewis JE, Gilmour KM, Moorhead MJ, Perry SF, Markham MR.

J Neurosci. 2014 Jan 1;34(1):197-201. doi: 10.1523/JNEUROSCI.3180-13.2014.

3.

Production and first-in-man use of T cells engineered to express a HSVTK-CD34 sort-suicide gene.

Zhan H, Gilmour K, Chan L, Farzaneh F, McNicol AM, Xu JH, Adams S, Fehse B, Veys P, Thrasher A, Gaspar H, Qasim W.

PLoS One. 2013 Oct 21;8(10):e77106. doi: 10.1371/journal.pone.0077106. eCollection 2013.

4.

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD.

BMC Med Genet. 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42.

5.

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

Gholam C, Grigoriadou S, Gilmour KC, Gaspar HB.

Clin Exp Immunol. 2011 Mar;163(3):271-83. doi: 10.1111/j.1365-2249.2010.04302.x. Review.

6.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.

Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Erratum in: Blood. 2011 Nov 3;118(18):5060. Pachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana].

7.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M.

J Med Genet. 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341.

8.

Frontiers in aquatic physiology - grand challenge.

Evans DH, Axelsson M, Beltz B, Burggren W, Castellini M, Clements KD, Crockett L, Gilmour KM, Henry RP, Hirose S, Ip AY, Londraville R, Lucu C, Poertner HO, Summers A, Wright P.

Front Physiol. 2010 May 18;1:6. doi: 10.3389/fphys.2010.00006. eCollection 2010. No abstract available.

9.

Agonistic encounters and cellular angst: social interactions induce heat shock proteins in juvenile salmonid fish.

Currie S, LeBlanc S, Watters MA, Gilmour KM.

Proc Biol Sci. 2010 Mar 22;277(1683):905-13. doi: 10.1098/rspb.2009.1562. Epub 2009 Nov 18.

10.

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients.

Howe SJ, Mansour MR, Schwarzwaelder K, Bartholomae C, Hubank M, Kempski H, Brugman MH, Pike-Overzet K, Chatters SJ, de Ridder D, Gilmour KC, Adams S, Thornhill SI, Parsley KL, Staal FJ, Gale RE, Linch DC, Bayford J, Brown L, Quaye M, Kinnon C, Ancliff P, Webb DK, Schmidt M, von Kalle C, Gaspar HB, Thrasher AJ.

J Clin Invest. 2008 Sep;118(9):3143-50. doi: 10.1172/JCI35798.

11.

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo.

Schwarzwaelder K, Howe SJ, Schmidt M, Brugman MH, Deichmann A, Glimm H, Schmidt S, Prinz C, Wissler M, King DJ, Zhang F, Parsley KL, Gilmour KC, Sinclair J, Bayford J, Peraj R, Pike-Overzet K, Staal FJ, de Ridder D, Kinnon C, Abel U, Wagemaker G, Gaspar HB, Thrasher AJ, von Kalle C.

J Clin Invest. 2007 Aug;117(8):2241-9.

12.

An unusual cause of granulomatous disease.

McLean-Tooke AP, Aldridge C, Gilmour K, Higgins B, Hudson M, Spickett GP.

BMC Clin Pathol. 2007 Mar 2;7:1.

13.

Coordinated oncogenic transformation and inhibition of host immune responses by the PAX3-FKHR fusion oncoprotein.

Nabarro S, Himoudi N, Papanastasiou A, Gilmour K, Gibson S, Sebire N, Thrasher A, Blundell MP, Hubank M, Canderan G, Anderson J.

J Exp Med. 2005 Nov 21;202(10):1399-410. Epub 2005 Nov 14.

14.

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

Eastwood D, Gilmour KC, Nistala K, Meaney C, Chapel H, Sherrell Z, Webster AD, Davies EG, Jones A, Gaspar HB.

Clin Exp Immunol. 2004 Sep;137(3):584-8.

15.

Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G, Cale CM.

Mol Pathol. 2003 Oct;56(5):256-62.

16.

X-linked lymphoproliferative disease: three atypical cases.

Nistala K, Gilmour KC, Cranston T, Davies EG, Goldblatt D, Gaspar HB, Jones AM.

Clin Exp Immunol. 2001 Oct;126(1):126-30.

17.

Severe combined immunodeficiency--molecular pathogenesis and diagnosis.

Gaspar HB, Gilmour KC, Jones AM.

Arch Dis Child. 2001 Feb;84(2):169-73. Review. No abstract available.

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