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Results: 1 to 20 of 191


Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Shahni R, Cale CM, Anderson G, Osellame LD, Hambleton S, Jacques TS, Wedatilake Y, Taanman JW, Chan E, Qasim W, Plagnol V, Chalasani A, Duchen MR, Gilmour KC, Rahman S.

Brain. 2015 Jun 29. pii: awv182. [Epub ahead of print]


The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.


A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

Patiroglu T, Haluk Akar H, Gilmour K, Unal E, Akif Ozdemir M, Bibi S, Burns S, Chiang SC, Schlums H, Bryceson YT, Karakukcu M.

Clin Immunol. 2015 Jul;159(1):58-62. doi: 10.1016/j.clim.2015.04.015. Epub 2015 May 6. No abstract available.


Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.

Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M.

JAMA. 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253.


Long-term survival benefits of thrombolysis: the Royal College of General Practitioners' myocardial infarction study.

Gilmour KM, Iversen L, Hannaford PC.

Fam Pract. 2015 Apr;32(2):192-7. doi: 10.1093/fampra/cmv006. Epub 2015 Feb 24.


Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, Pende D, Gilmour K, Romagnoli P, Griffiths GM, Aricò M.

J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11.


Immunotherapy of HCC metastases with autologous T cell receptor redirected T cells, targeting HBsAg in a liver transplant patient.

Qasim W, Brunetto M, Gehring AJ, Xue SA, Schurich A, Khakpoor A, Zhan H, Ciccorossi P, Gilmour K, Cavallone D, Moriconi F, Farzhenah F, Mazzoni A, Chan L, Morris E, Thrasher A, Maini MK, Bonino F, Stauss H, Bertoletti A.

J Hepatol. 2015 Feb;62(2):486-91. doi: 10.1016/j.jhep.2014.10.001. Epub 2014 Oct 13.


Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Patiroglu T, Akar HH, Gilmour K, Ozdemir MA, Bibi S, Henriquez F, Burns SO, Unal E.

J Clin Immunol. 2014 Oct;34(7):792-5. doi: 10.1007/s10875-014-0077-5. Epub 2014 Aug 8. Review.


Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.


Regulation of hypothalamic-pituitary-interrenal axis function in male smallmouth bass (Micropterus dolomieu) during parental care.

Jeffrey JD, Cooke SJ, Gilmour KM.

Gen Comp Endocrinol. 2014 Aug 1;204:195-202. doi: 10.1016/j.ygcen.2014.05.023. Epub 2014 May 29.


The stress response predicts migration failure but not migration rate in a semelparous fish.

Cook KV, Crossin GT, Patterson DA, Hinch SG, Gilmour KM, Cooke SJ.

Gen Comp Endocrinol. 2014 Jun 1;202:44-9. doi: 10.1016/j.ygcen.2014.04.008. Epub 2014 Apr 24.


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.


Preparation for and physiological responses to competing in the Marathon des Sables: a case report.

Williams N, Wickes SJ, Gilmour K, Barker N, Scott JP.

J Sports Med Phys Fitness. 2014 Feb;54(1):34-42.


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.


Social stress modulates the cortisol response to an acute stressor in rainbow trout (Oncorhynchus mykiss).

Jeffrey JD, Gollock MJ, Gilmour KM.

Gen Comp Endocrinol. 2014 Jan 15;196:8-16. doi: 10.1016/j.ygcen.2013.11.010. Epub 2013 Nov 22.


The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, Veys PA, Davies EG, Jeggo PA, Jones A.

Clin Immunol. 2013 Dec;149(3):464-74. doi: 10.1016/j.clim.2013.08.006. Epub 2013 Aug 27. Review.


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.


Impact of thymoglobulin prior to pediatric unrelated umbilical cord blood transplantation on immune reconstitution and clinical outcome.

Lindemans CA, Chiesa R, Amrolia PJ, Rao K, Nikolajeva O, de Wildt A, Gerhardt CE, Gilmour KC, B Bierings M, Veys P, Boelens JJ.

Blood. 2014 Jan 2;123(1):126-32. doi: 10.1182/blood-2013-05-502385. Epub 2013 Nov 1.


Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis.

Jackson J, Titman P, Butler S, Bond K, Rao A, Veys P, Chiesa R, Leiper A, Riley L, Gilmour K, Amrolia P, Rao K.

J Allergy Clin Immunol. 2013 Oct;132(4):889-95.e1-3. doi: 10.1016/j.jaci.2013.05.046. Epub 2013 Aug 26.


22q11.2 deletion syndrome with life-threatening adenovirus infection.

Ip W, Zhan H, Gilmour KC, Davies EG, Qasim W.

J Pediatr. 2013 Sep;163(3):908-10. doi: 10.1016/j.jpeds.2013.03.070. Epub 2013 May 6.

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