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Items: 46

1.

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Schirwani S, McConnell V, Willoughby J; DDD Study, Balasubramanian M.

Gene. 2018 Oct 25;685:50-54. doi: 10.1016/j.gene.2018.10.067. [Epub ahead of print] Review.

PMID:
30393191
2.

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.

Nadarajah N, Schulte D, McConnell V, Martin-Almedina S, Karapouliou C, Mortimer PS, Jeffery S, Schulte-Merker S, Gordon K, Mansour S, Ostergaard P.

Int J Mol Sci. 2018 Aug 1;19(8). pii: E2259. doi: 10.3390/ijms19082259.

3.

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.

Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

4.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER.

J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. Erratum in: J Med Genet. 2018 Nov 22;:.

5.

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J.

J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22.

PMID:
29358271
6.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study; CAUSES study, Williams J, Clouston P, Hagman J, Németh AH.

Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23.

7.

Clinical and genetic aspects of KBG syndrome.

Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study, Smithson S.

Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26.

8.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD Collaboration, Kühl SJ, Kini U, McNeill A.

J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5.

9.

The ocular phenotype of stiff-skin syndrome.

Chamney S, Cartmill B, Earley O, McConnell V, Willoughby CE.

Eye (Lond). 2016 Jan;30(1):156-9. doi: 10.1038/eye.2015.183. Epub 2015 Oct 16.

10.

Colorectal Cancer Risk Following Adenoma Removal: A Large Prospective Population-Based Cohort Study.

Coleman HG, Loughrey MB, Murray LJ, Johnston BT, Gavin AT, Shrubsole MJ, Bhat SK, Allen PB, McConnell V, Cantwell MM.

Cancer Epidemiol Biomarkers Prev. 2015 Sep;24(9):1373-80. doi: 10.1158/1055-9965.EPI-15-0085. Epub 2015 Jun 16.

11.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

12.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

13.

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Chamney S, McGimpsey S, McConnell V, Willoughby CE.

Ophthalmic Genet. 2015 Mar;36(1):86-8. doi: 10.3109/13816810.2013.833634. Epub 2013 Sep 10.

PMID:
24020716
14.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A.

BMC Med Genet. 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48.

15.

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.

Am J Med Genet A. 2012 May;158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.

16.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N.

Oncotarget. 2011 Dec;2(12):1127-33.

17.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.

Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.

18.

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.

Donnelly DE, Turnpenny P, McConnell VP.

Clin Dysmorphol. 2011 Oct;20(4):175-81. doi: 10.1097/MCD.0b013e328349182d.

PMID:
21738022
19.

Challenges in management of primary hypoparathyroidism associated with autoimmune polyglandular syndrome type 1.

Wallace IR, McConnell V, Bell PM, Lindsay JR.

Case Rep Endocrinol. 2011;2011:281758. doi: 10.1155/2011/281758. Epub 2011 Sep 7.

20.
21.

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC.

Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488.

22.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.

Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL.

J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1.

23.

Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.

Hong M, Ryan KR, Arkwright PD, Gennery AR, Costigan C, Dominguez M, Denning DW, McConnell V, Cant AJ, Abinun M, Spickett GP, Swan DC, Gillespie CS, Young DA, Lilic D.

Clin Exp Immunol. 2009 Apr;156(1):40-51. doi: 10.1111/j.1365-2249.2009.03873.x. Epub 2009 Jan 22.

24.

Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED.

Ryan KR, Hong M, Arkwright PD, Gennery AR, Costigan C, Dominguez M, Denning D, McConnell V, Cant AJ, Abinun M, Spickett GP, Lilic D.

Clin Exp Immunol. 2008 Dec;154(3):406-14. doi: 10.1111/j.1365-2249.2008.03778.x.

25.

Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.

Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, Pura M, Bøe Wolff AS, Husebye ES, Lilic D, Ryan KR, Gennery AR, Cant AJ, Abinun M, Spickett GP, Arkwright PD, Denning D, Costigan C, Dominguez M, McConnell V, Willcox N, Meager A.

J Clin Endocrinol Metab. 2008 Nov;93(11):4389-97. doi: 10.1210/jc.2008-0935. Epub 2008 Aug 26.

PMID:
18728167
26.

Scurvy is still present in developed countries.

Velandia B, Centor RM, McConnell V, Shah M.

J Gen Intern Med. 2008 Aug;23(8):1281-4. doi: 10.1007/s11606-008-0577-1. Epub 2008 May 6.

27.

Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

Hughes AE, Orr N, Patterson C, Esfandiary H, Hogg R, McConnell V, Silvestri G, Chakravarthy U.

PLoS Med. 2007 Dec;4(12):e355.

28.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM.

Nat Genet. 2007 Dec;39(12):1488-93. Epub 2007 Nov 11. Erratum in: Nat Genet. 2008 Feb;40(2):255.

PMID:
17994018
29.

Cannabinoid-induced pancreatitis: a case series.

Wargo KA, Geveden BN, McConnell VJ.

JOP. 2007 Sep 7;8(5):579-83.

30.

A case of Streptococcus intermedius empyema.

Wargo KA, McConnell VJ, Higginbotham SA.

Ann Pharmacother. 2006 Jun;40(6):1208-10. Epub 2006 May 30.

PMID:
16735670
31.

Age-related macular degeneration.

McConnell V, Silvestri G.

Ulster Med J. 2005 Sep;74(2):82-92. Review. No abstract available.

32.

Amoxicillin/telithromycin-induced rash in infectious mononucleosis.

Wargo KA, McConnell V, Jennings M.

Ann Pharmacother. 2005 Sep;39(9):1577. Epub 2005 Jul 26. No abstract available.

PMID:
16046485
33.

A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.

McKay GJ, Clarke S, Hughes A, McConnell V, Schultz DW, Klein ML, Silvestri G, Simpson DA.

Mol Vis. 2004 Sep 24;10:682-7.

34.

Mosaic monosomy 14: clinical features and recognizable facies.

McConnell V, Derham R, McManus D, Morrison PJ.

Clin Dysmorphol. 2004 Jul;13(3):155-60.

PMID:
15194951
35.

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance.

McConnell V, Brown T, Morrison PJ.

Clin Dysmorphol. 2003 Oct;12(4):241-4.

PMID:
14564211
36.

Trading cases.

Boyd J, Burtraw D, Krupnick A, McConnell V, Newell RG, Palmer K, Sanchirico JN, Walls M.

Environ Sci Technol. 2003 Jun 1;37(11):216A-223A. No abstract available.

PMID:
12831010
37.

Antimicrobial intermediates of the general phenylpropanoid and lignin specific pathways.

Barber MS, McConnell VS, DeCaux BS.

Phytochemistry. 2000 May;54(1):53-6.

PMID:
10846747
38.

Costs, emissions reductions, and vehicle repair: evidence from Arizona.

Ando A, McConnell V, Harrington W.

J Air Waste Manag Assoc. 2000 Apr;50(4):509-21.

PMID:
10786002
39.

Estimating Full IM240 Emissions from Partial Test Results: Evidence from Arizona.

Ando AW, Harrington W, McConnell V.

J Air Waste Manag Assoc. 1999 Oct;49(10):1153-1167. doi: 10.1080/10473289.1999.10463910.

PMID:
28060669
40.

X irradiation of isolated sarcoplasmic reticulum vesicles.

McConnell V, McIntosh DB, Berman MC.

Radiat Res. 1981 Mar;85(3):505-15. No abstract available.

PMID:
6259682
41.

Influence of oxygen tension on X-ray-induced fall in anodic mobility of Ehrlich ascites tumour cells irradiated in vitro.

McConnell VA, Shepstone BJ.

Int J Radiat Biol Relat Stud Phys Chem Med. 1978 Oct;34(4):391-6. No abstract available.

PMID:
309875
42.

A mechanism for the biochemical interaction of heparin with cellular membranes damaged by X radiation.

McConnell V, Kench JE.

Radiat Res. 1977 Nov;72(2):246-64. No abstract available.

PMID:
918259
43.
44.

Liver scanning, with special reference to 99m technetium.

McConnell VA, Saunders SJ, Werner ID, Le Roux PL, Weir H.

S Afr Med J. 1968 Dec 7;42(46):1259-61. No abstract available.

PMID:
5720133
45.

Surgical treatment of cavitary pulmonary histoplasmosis.

DIVELEY W, McCRACKEN R, STONEY W, GUEST J, McCONNELL V.

J Thorac Cardiovasc Surg. 1963 Jan;45:101-11. No abstract available.

PMID:
14028098
46.

An Early Venture in Heteroplasty.

McConnell V.

Can Med Assoc J. 1960 Sep 10;83(11):609. No abstract available.

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