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Items: 1 to 50 of 60

1.

Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Cross SH, Mckie L, Keighren M, West K, Thaung C, Davey T, Soares DC, Sanchez-Pulido L, Jackson IJ.

Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2875-2887. doi: 10.1167/iovs.18-25954.

PMID:
31266059
2.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR.

PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec.

3.

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Findlay AS, Carter RN, Starbuck B, McKie L, Nováková K, Budd PS, Keighren MA, Marsh JA, Cross SH, Simon MM, Potter PK, Morton NM, Jackson IJ.

Dis Model Mech. 2018 Dec 18;11(12). pii: dmm036426. doi: 10.1242/dmm.036426.

4.

Anomalous biliary and vascular anatomy-Potential pitfalls during cholecystectomy.

Grimes N, Mark D, McKie L, Scoffield J, Kirk G, Taylor M, Diamond T.

Clin Anat. 2017 Nov;30(8):1103-1106. doi: 10.1002/ca.22895. Epub 2017 May 22.

PMID:
28470709
5.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P.

Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13.

6.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study, van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.

Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21.

7.

Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction.

Jadeja S, Barnard AR, McKie L, Cross SH, White JK; Sanger Mouse Genetics Project, Robertson M, Budd PS, MacLaren RE, Jackson IJ.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3015-26. doi: 10.1167/iovs.14-15735.

8.

Cholecystostomy for acalculous cholecystitis with haemobilia in a lung transplant patient; a case report.

Mayne AI, Dasari BV, McKie LD, Kidney JC.

Ulster Med J. 2014 May;83(2):116-7. No abstract available.

9.

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, Thaung C, Keighren M, Jadeja S, West K, Kneeland SC, Smith RS, Howell GR, Young F, Robertson M, van T' Hof R, John SW, Jackson IJ.

PLoS Genet. 2014 May 8;10(5):e1004359. doi: 10.1371/journal.pgen.1004359. eCollection 2014 May. Erratum in: PLoS Genet. 2014 Dec;10(12):e1004917.

10.

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.

Carpanini SM, McKie L, Thomson D, Wright AK, Gordon SL, Roche SL, Handley MT, Morrison H, Brownstein D, Wishart TM, Cousin MA, Gillingwater TH, Aligianis IA, Jackson IJ.

Dis Model Mech. 2014 Jun;7(6):711-22. doi: 10.1242/dmm.015222. Epub 2014 Apr 24.

11.

PET-CT as a predictor of outcome in resectable colorectal liver metastases.

Jones C, Badger SA, Stevenson M, Diamond T, McKie LD, Taylor MA, Wilson RH, Lynch TB.

Eur J Gastroenterol Hepatol. 2014 Apr;26(4):466-72. doi: 10.1097/MEG.0000000000000036.

PMID:
24445726
12.

Surgical versus endoscopic treatment of bile duct stones.

Dasari BV, Tan CJ, Gurusamy KS, Martin DJ, Kirk G, McKie L, Diamond T, Taylor MA.

Cochrane Database Syst Rev. 2013 Dec 12;(12):CD003327. doi: 10.1002/14651858.CD003327.pub4. Review.

13.

Surgical versus endoscopic treatment of bile duct stones.

Dasari BV, Tan CJ, Gurusamy KS, Martin DJ, Kirk G, McKie L, Diamond T, Taylor MA.

Cochrane Database Syst Rev. 2013 Sep 3;(9):CD003327. doi: 10.1002/14651858.CD003327.pub3. Review. Update in: Cochrane Database Syst Rev. 2013;(12):CD003327.

PMID:
23999986
14.

Role of carcinoembryonic antigen as a marker for colorectal liver metastases.

Jones C, Badger SA, Epanomeratikis E, McKie LD, Diamond T, Taylor MA.

Br J Biomed Sci. 2013;70(2):47-50.

PMID:
23888604
15.

Biliary complications during a decade of increased cholecystectomy rate.

Ahmad J, McElvanna K, McKie L, Taylor M, Diamond T.

Ulster Med J. 2012 May;81(2):79-82.

16.

PET-CT accurately predicts the pre-operative characteristics of colorectal hepatic metastases.

Jones C, Badger SA, McKie LD, Diamond T, Taylor MA, Lynch TB.

Eur J Surg Oncol. 2012 Dec;38(12):1184-8. doi: 10.1016/j.ejso.2012.07.001. Epub 2012 Aug 9.

PMID:
22883963
17.

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases.

Douvaras P, Liu W, Mort RL, McKie L, West KM, Cross SH, Morley SD, West JD.

BMC Res Notes. 2012 Feb 27;5:122. doi: 10.1186/1756-0500-5-122.

18.

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR.

PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7. Erratum in: PLoS Genet. 2018 Dec 26;14(12):e1007866.

19.

Preoperative symptoms of irritable bowel syndrome predict poor outcome after laparoscopic cholecystectomy.

Kirk G, Kennedy R, McKie L, Diamond T, Clements B.

Surg Endosc. 2011 Oct;25(10):3379-84. doi: 10.1007/s00464-011-1729-7. Epub 2011 May 10.

PMID:
21556991
20.

The role of surgery for pancreatic cancer: a 12-year review of patient outcome.

Badger SA, Brant JL, Jones C, McClements J, Loughrey MB, Taylor MA, Diamond T, McKie LD.

Ulster Med J. 2010 May;79(2):70-5.

21.

Lymphogranuloma venerum (LGV) proctitis mimicking rectal cancer.

Taylor G, Dasari BV, McKie L, Harvey C, Emerson C.

Colorectal Dis. 2011 Apr;13(4):e63-4. doi: 10.1111/j.1463-1318.2010.02501.x. No abstract available.

PMID:
21070565
22.

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ.

Hum Mol Genet. 2011 Jan 15;20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13.

23.

Can the National Health Service Cancer Plan timeline be applied to colorectal hepatic metastases?

Jones C, Badger SA, McClements J, McKie L, Diamond T, Taylor MA.

Ann R Coll Surg Engl. 2010 Mar;92(2):136-8. doi: 10.1308/003588410X12628812458734.

24.

Gendered and social hierarchies in problem representation and policy processes: "domestic violence" in Finland and Scotland.

Hearn J, McKie L.

Violence Against Women. 2010 Feb;16(2):136-58. doi: 10.1177/1077801209355185. Epub 2009 Dec 8.

25.

Palmitoylation regulates epidermal homeostasis and hair follicle differentiation.

Mill P, Lee AW, Fukata Y, Tsutsumi R, Fukata M, Keighren M, Porter RM, McKie L, Smyth I, Jackson IJ.

PLoS Genet. 2009 Nov;5(11):e1000748. doi: 10.1371/journal.pgen.1000748. Epub 2009 Nov 26.

26.

GABAergic amacrine cells and visual function are reduced in PAC1 transgenic mice.

Lang B, Zhao L, Cai L, McKie L, Forrester JV, McCaig CD, Jackson IJ, Shen S.

Neuropharmacology. 2010 Jan;58(1):215-25. doi: 10.1016/j.neuropharm.2009.07.003. Epub 2009 Jul 9.

PMID:
19596361
27.

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development.

Webb TR, Cross SH, McKie L, Edgar R, Vizor L, Harrison J, Peters J, Jackson IJ.

J Cell Sci. 2008 Oct 1;121(Pt 19):3140-5. doi: 10.1242/jcs.035550. Epub 2008 Sep 2.

28.

Humanized MC1R transgenic mice reveal human specific receptor function.

Jackson IJ, Budd PS, Keighren M, McKie L.

Hum Mol Genet. 2007 Oct 1;16(19):2341-8. Epub 2007 Jul 25.

PMID:
17652101
29.

Can physiological variables and early warning scoring systems allow early recognition of the deteriorating surgical patient?

Cuthbertson BH, Boroujerdi M, McKie L, Aucott L, Prescott G.

Crit Care Med. 2007 Feb;35(2):402-9.

PMID:
17205002
30.

Sinistral portal hypertension.

Thompson RJ, Taylor MA, McKie LD, Diamond T.

Ulster Med J. 2006 Sep;75(3):175-7. Review.

31.

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

Hart AW, Morgan JE, Schneider J, West K, McKie L, Bhattacharya S, Jackson IJ, Cross SH.

Hum Mol Genet. 2006 Aug 15;15(16):2457-67. Epub 2006 Jul 6.

PMID:
16825286
32.

Combined antioxidant therapy reduces pain and improves quality of life in chronic pancreatitis.

Kirk GR, White JS, McKie L, Stevenson M, Young I, Clements WD, Rowlands BJ.

J Gastrointest Surg. 2006 Apr;10(4):499-503.

PMID:
16627214
33.

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Van Agtmael T, Schlötzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Pöschl E, Jackson IJ.

Hum Mol Genet. 2005 Nov 1;14(21):3161-8. Epub 2005 Sep 13.

PMID:
16159887
34.

Genotype-phenotype correlation of mouse pde6b mutations.

Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5170.

PMID:
16123450
36.

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH.

J Neurol. 2004 Sep;251(9):1068-74.

PMID:
15372247
37.

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, Thaung C, Brunet JF, Jackson IJ.

Hum Mol Genet. 2004 Jul 15;13(14):1433-9. Epub 2004 May 18.

PMID:
15150159
38.

Review article: gender, violence and health care: implications for research, policy and practice.

McKie L.

Sociol Health Illn. 2003 Jan;25(1):120-31. Review. No abstract available.

39.

Transduodenal excision of ampullary tumours.

Bohra AK, McKie L, Diamond T.

Ulster Med J. 2002 Nov;71(2):121-7.

40.

Eliciting the smoker's agenda: implications for policy and practice.

McKie L, Laurier E, Taylor RJ, Lennox AS.

Soc Sci Med. 2003 Jan;56(1):83-94.

PMID:
12435553
41.

Predictors of micronutrient status in men and women over 75 years old living in the community.

McNeill G, Vyvyan J, Peace H, McKie L, Seymour G, Hendry J, MacPherson I.

Br J Nutr. 2002 Nov;88(5):555-61.

PMID:
12425736
42.

The food consumption patterns and perceptions of dietary advice of older people.

McKie L, MacInnes A, Hendry J, Donald S, Peace H.

J Hum Nutr Diet. 2000 Jun;13(3):173-183.

PMID:
12383124
43.

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH.

Hum Mol Genet. 2002 Apr 1;11(7):755-67.

PMID:
11929848
44.

Health issues in remote and rural areas.

McKie L, MacPherson I.

Health Bull (Edinb). 1997 Sep;55(5):296-8.

PMID:
11769108
45.

Biliary complications associated with laparoscopic cholecystectomy--an analysis of common misconceptions.

Bingham J, McKie LD, McLoughlin J, Diamond T.

Ulster Med J. 2000 Nov;69(2):106-11.

46.

Biliary complications associated with laparoscopic cholecystectomy: analysis of common misconceptions

Bingham J, McKie LD, McLoughlin J, Diamond T.

Br J Surg. 2000 Mar;87(3):362-73.

PMID:
10718960
47.

A critical appraisal of the draw and write technique.

Backett-Milburn K, McKie L.

Health Educ Res. 1999 Jun;14(3):387-98.

PMID:
10539229
48.

The promotion of healthy eating: food availability and choice in Scottish island communities.

McKie L, Clark GM, MacLellan M, Skerratt S.

Health Educ Res. 1998 Sep;13(3):371-82.

PMID:
10186449
49.

Getting the message across: the development and evaluation of a health education video in general practice.

Shiroyama C, Begg A, Griffiths J, McKie L.

Health Bull (Edinb). 1997 Jan;55(1):58-61.

PMID:
9090180
50.

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