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Items: 1 to 50 of 94

1.

Role of recent climate change on carbon sequestration in peatland systems.

Lunt PH, Fyfe RM, Tappin AD.

Sci Total Environ. 2019 Jun 1;667:348-358. doi: 10.1016/j.scitotenv.2019.02.239. Epub 2019 Feb 19.

PMID:
30833238
2.
3.

Observation of Three-Body Correlations for Photons Coupled to a Rydberg Superatom.

Stiesdal N, Kumlin J, Kleinbeck K, Lunt P, Braun C, Paris-Mandoki A, Tresp C, Büchler HP, Hofferberth S.

Phys Rev Lett. 2018 Sep 7;121(10):103601. doi: 10.1103/PhysRevLett.121.103601.

PMID:
30240243
4.

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, MacekJr M, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC.

Genet Med. 2019 Jul;21(7):1669. doi: 10.1038/s41436-018-0279-y.

PMID:
30139992
5.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Macek M Jr, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC.

Genet Med. 2019 Mar;21(3):718-726. doi: 10.1038/s41436-018-0132-3. Epub 2018 Jul 27. Erratum in: Genet Med. 2018 Aug 23;:.

PMID:
30050101
6.

Implementing genetic education in primary care: the Gen-Equip programme.

Paneque M, Cornel MC, Curtisova V, Houwink E, Jackson L, Kent A, Lunt P, Macek M, Stefansdottir V, Turchetti D, Skirton H.

J Community Genet. 2017 Apr;8(2):147-150. doi: 10.1007/s12687-017-0296-6. Epub 2017 Mar 13.

7.

A systematic review of interventions to provide genetics education for primary care.

Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H.

BMC Fam Pract. 2016 Jul 22;17:89. doi: 10.1186/s12875-016-0483-2. Review.

8.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmüller H.

J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.

9.

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

10.

Surface properties of nanocrystalline PbS films deposited at the water-oil interface: a study of atmospheric aging.

Cant DJ, Syres KL, Lunt PJ, Radtke H, Treacy J, Thomas PJ, Lewis EA, Haigh SJ, O'Brien P, Schulte K, Bondino F, Magnano E, Flavell WR.

Langmuir. 2015 Feb 3;31(4):1445-53. doi: 10.1021/la504779h. Epub 2015 Jan 20.

PMID:
25557338
11.

Epigenetic hypomethylation in FSHD: it's not what you inherit, it's whether it shows.

Lunt PW, Figlewicz DA.

Neurology. 2014 Aug 19;83(8):674-5. doi: 10.1212/WNL.0000000000000726. Epub 2014 Jul 16. No abstract available.

PMID:
25031285
12.

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.

Bownass L, Lunt P, Williams C, Woodbridge T, Ellis M, Scurr I.

Clin Dysmorphol. 2014 Apr;23(2):63-6. doi: 10.1097/MCD.0000000000000030. No abstract available.

PMID:
24561646
13.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

14.

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ.

Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344.

15.

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS.

Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.

16.

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG.

Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.

17.

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands.

Lemmers RJ, O'Shea S, Padberg GW, Lunt PW, van der Maarel SM.

Neuromuscul Disord. 2012 May;22(5):463-70. doi: 10.1016/j.nmd.2011.09.004. Epub 2011 Dec 16. No abstract available.

18.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S.

Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

PMID:
21892158
19.

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R.

Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Review.

20.

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium.

Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445.

PMID:
20803646
21.

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Hastings RW, Newbury-Ecob R, Lunt PW.

Clin Dysmorphol. 2010 Oct;19(4):202-5. doi: 10.1097/MCD.0b013e32833e07de. No abstract available.

PMID:
20717007
22.

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

Crompton D, Rehal PK, MacPherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, MacDonald F, Maher ER, Kurian MA.

Mol Genet Metab. 2010 Jun;100(2):207-12. doi: 10.1016/j.ymgme.2010.02.009. Epub 2010 Feb 16.

PMID:
20226704
23.

Childhood predictive genetic testing for Li-Fraumeni syndrome.

Evans DG, Lunt P, Clancy T, Eeles R.

Fam Cancer. 2010 Mar;9(1):65-9. doi: 10.1007/s10689-009-9245-9. Epub 2009 Apr 30.

PMID:
19404774
24.

Hopping hotspots: global shifts in marine biodiversity.

Renema W, Bellwood DR, Braga JC, Bromfield K, Hall R, Johnson KG, Lunt P, Meyer CP, McMonagle LB, Morley RJ, O'Dea A, Todd JA, Wesselingh FP, Wilson ME, Pandolfi JM.

Science. 2008 Aug 1;321(5889):654-7. doi: 10.1126/science.1155674. Review.

PMID:
18669854
25.

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation.

Connor A, Lunt PW, Dolling C, Patel Y, Meredith AL, Gardner A, Hamilton NK, Dudley CR.

Am J Transplant. 2008 Jan;8(1):232-7. Epub 2007 Oct 31.

26.

Siblings with recessive oculopharyngeal muscular dystrophy.

Hebbar S, Webberley MJ, Lunt P, Robinson DO.

Neuromuscul Disord. 2007 Mar;17(3):254-7. Epub 2007 Feb 12.

PMID:
17296297
27.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S.

Am J Med Genet A. 2005 Jan 1;132A(1):1-7.

PMID:
15558842
28.

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjöld M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM.

Am J Hum Genet. 2003 Jul;73(1):198-204. Epub 2003 May 29.

29.

22q11 deletion: a multisystem disorder requiring multidisciplinary input.

Greenhalgh KL, Aligianis IA, Bromilow G, Cox H, Hill C, Stait Y, Leech BJ, Lunt PW, Ellis M.

Arch Dis Child. 2003 Jun;88(6):523-4.

30.

Siblings with Bohring-Opitz syndrome.

Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF.

Clin Dysmorphol. 2003 Jan;12(1):15-9.

PMID:
12514360
31.

A genealogy of the social identity tradition: Deleuze and Guattari and social psychology.

Brown SD, Lunt P.

Br J Soc Psychol. 2002 Mar;41(Pt 1):1-23.

PMID:
11970771
32.

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.

Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR.

Hum Mol Genet. 2001 Nov 15;10(24):2797-802.

PMID:
11734544
33.

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.

Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, Kelly DA, Mieli-Vergani G, Cox TM.

J Med Genet. 2001 Sep;38(9):599-610.

34.

Distal trisomy 2p and arachnodactyly.

Stalker DJ, Vigneswaren S, Sharples PM, Lunt PW.

J Med Genet. 2000 Dec;37(12):974-6. No abstract available.

35.

Prenatal onset spinal muscular atrophy.

MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA.

Eur J Paediatr Neurol. 1999;3(2):65-72.

PMID:
10700541
36.

Cerebrospinal fluid cytokine levels after surgery with spinal or general anesthesia.

Yeager MP, Lunt P, Arruda J, Whalen K, Rose R, DeLeo JA.

Reg Anesth Pain Med. 1999 Nov-Dec;24(6):557-62.

PMID:
10588562
37.

HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience.

Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD.

Ann N Y Acad Sci. 1999 Sep 14;883:500-3. No abstract available.

PMID:
10586284
38.

HMSN and HNPP: Laboratory Service Provision in the South West of England-Two Years' Experience.

Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD.

Ann N Y Acad Sci. 1999 Oct;883(1):500-503. doi: 10.1111/j.1749-6632.1999.tb08621.x. No abstract available.

PMID:
29086968
39.

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG.

J Pediatr. 1999 Sep;135(3):311-5. Erratum in: J Pediatr 2000 Jun;136(1):136.

PMID:
10484795
40.

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q.

Inglehearn CF, McHale JC, Keen TJ, Skirton H, Lunt PW.

J Med Genet. 1999 Aug;36(8):646-8. No abstract available.

41.

The state of implantable pain therapies in the United States: a nationwide survey of academic teaching programs.

Fanciullo GJ, Rose RJ, Lunt PG, Whalen PK, Ross E.

Anesth Analg. 1999 Jun;88(6):1311-6.

PMID:
10357336
42.

The Opitz syndrome gene product, MID1, associates with microtubules.

Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH.

Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):2794-9.

43.
44.

An unusually severe phenotype for familial adenomatous polyposis.

Eccles DM, Lunt PW, Wallis Y, Griffiths M, Sandhu B, McKay S, Morton D, Shea-Simonds J, Macdonald F.

Arch Dis Child. 1997 Nov;77(5):431-5.

45.

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS.

J Med Genet. 1997 Jun;34(6):476-9.

46.

Nephrogenic rests and renal abnormalities in Brachmann-de Lange syndrome.

Charles AK, Porter HJ, Sams V, Lunt P.

Pediatr Pathol Lab Med. 1997 Mar-Apr;17(2):209-19. Review.

PMID:
9086528
47.

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.

Hum Mutat. 1997;9(6):512-8.

PMID:
9195224
48.

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.

Hum Mol Genet. 1997 Jan;6(1):137-43.

PMID:
9002682
49.

Prophylactic mastectomy for genetic predisposition to breast cancer: the proband's story.

Eeles R, Cole T, Taylor R, Lunt P, Baum M.

Clin Oncol (R Coll Radiol). 1996;8(4):222-5.

PMID:
8870999
50.

MSH2 sequence variations and inherited colorectal cancer susceptibility.

Froggatt NJ, Joyce JA, Evans DG, Lunt PW, Koch DJ, Ponder BJ, Maher ER.

Eur J Cancer. 1996 Jan;32A(1):178. No abstract available.

PMID:
8695231

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