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Items: 1 to 50 of 56

1.

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX, Malek N, Lawton MA, Hubbard L, Pittman AM, Joseph T, Hehir J, Swallow DMA, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Hardy J, Wood N, Ben-Shlomo Y, Grosset DG, Williams NM, Morris HR.

Brain. 2019 Jul 19. pii: awz191. doi: 10.1093/brain/awz191. [Epub ahead of print]

PMID:
31324919
2.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS.

J Clin Med. 2019 Jul 8;8(7). pii: E991. doi: 10.3390/jcm8070991.

3.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.

Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

4.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC).

JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885.

5.

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.

Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW.

Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20.

6.

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G.

Orphanet J Rare Dis. 2017 Nov 2;12(1):172. doi: 10.1186/s13023-017-0721-2.

7.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

8.

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R, Ejaz A, Vattathil S, Maserati E, Houlden H, Taanman JW, Schapira AH, Proukakis C.

PLoS One. 2017 Jul 6;12(7):e0180467. doi: 10.1371/journal.pone.0180467. eCollection 2017.

9.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

10.

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium.

Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348.

11.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

12.

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Lubbe SJ, Escott-Price V, Brice A, Gasser T, Pittman AM, Bras J, Hardy J, Heutink P, Wood NM, Singleton AB, Grosset DG, Carroll CB, Law MH, Demenais F, Iles MM; Melanoma Meta-Analysis Consortium, Bishop DT, Newton-Bishop J, Williams NM, Morris HR; International Parkinson's Disease Genomics Consortium.

Neurobiol Aging. 2016 Dec;48:222.e1-222.e7. doi: 10.1016/j.neurobiolaging.2016.07.013. Epub 2016 Jul 28.

13.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.

Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015.

14.

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM.

Neurobiol Aging. 2016 Jan;37:210.e1-210.e5. doi: 10.1016/j.neurobiolaging.2015.09.020. Epub 2015 Oct 8.

PMID:
26518746
15.

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW.

Hum Mol Genet. 2015 Sep 15;24(18):5326-9. doi: 10.1093/hmg/ddv255. Epub 2015 Jul 8.

16.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.

17.

A regulatory hierarchy controls the dynamic transcriptional response to extreme oxidative stress in archaea.

Tonner PD, Pittman AM, Gulli JG, Sharma K, Schmid AK.

PLoS Genet. 2015 Jan 8;11(1):e1004912. doi: 10.1371/journal.pgen.1004912. eCollection 2015 Jan.

18.

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE, Pittman AM, Isaias IU, Hardy J, Klebe S, Bhatia KP, Wood NW.

Brain. 2015 May;138(Pt 5):e352. doi: 10.1093/brain/awu309. Epub 2014 Nov 14. No abstract available.

19.

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.

Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H.

JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994.

20.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium.

Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.

21.

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL.

PLoS One. 2014 Apr 9;9(4):e94338. doi: 10.1371/journal.pone.0094338. eCollection 2014.

22.

Protein-DNA binding dynamics predict transcriptional response to nutrients in archaea.

Todor H, Sharma K, Pittman AM, Schmid AK.

Nucleic Acids Res. 2013 Oct;41(18):8546-58. doi: 10.1093/nar/gkt659. Epub 2013 Jul 26.

23.

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL.

Genetics. 2012 Nov;192(3):831-42. doi: 10.1534/genetics.112.143750. Epub 2012 Aug 24.

24.

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M.

Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20.

25.

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.

Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T.

Neurobiol Aging. 2012 Sep;33(9):2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006. Epub 2012 May 16.

26.

Committed carbon emissions, deforestation, and community land conversion from oil palm plantation expansion in West Kalimantan, Indonesia.

Carlson KM, Curran LM, Ratnasari D, Pittman AM, Soares-Filho BS, Asner GP, Trigg SN, Gaveau DA, Lawrence D, Rodrigues HO.

Proc Natl Acad Sci U S A. 2012 May 8;109(19):7559-64. doi: 10.1073/pnas.1200452109. Epub 2012 Apr 20.

27.

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4.

Lubbe SJ, Pittman AM, Olver B, Lloyd A, Vijayakrishnan J, Naranjo S, Dobbins S, Broderick P, Gómez-Skarmeta JL, Houlston RS.

Oncogene. 2012 Aug 16;31(33):3777-84. doi: 10.1038/onc.2011.564. Epub 2011 Dec 12.

PMID:
22158048
28.

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, Tenesa A, Jones AM, Howarth K, Palles C, Broderick P, Jaeger EE, Farrington S, Lewis A, Prendergast JG, Pittman AM, Theodoratou E, Olver B, Walker M, Penegar S, Barclay E, Whiffin N, Martin L, Ballereau S, Lloyd A, Gorman M, Lubbe S; COGENT Consortium; CORGI Collaborators; EPICOLON Consortium, Howie B, Marchini J, Ruiz-Ponte C, Fernandez-Rozadilla C, Castells A, Carracedo A, Castellvi-Bel S, Duggan D, Conti D, Cazier JB, Campbell H, Sieber O, Lipton L, Gibbs P, Martin NG, Montgomery GW, Young J, Baird PN, Gallinger S, Newcomb P, Hopper J, Jenkins MA, Aaltonen LA, Kerr DJ, Cheadle J, Pharoah P, Casey G, Houlston RS, Dunlop MG.

PLoS Genet. 2011 Jun;7(6):e1002105. doi: 10.1371/journal.pgen.1002105. Epub 2011 Jun 2.

29.

Policy perils of ignoring uncertainty in oil palm research.

Paoli GD, Carlson KM, Hooijer A, Page SE, Curran LM, Wells PL, Morrison R, Jauhiainen J, Pittman AM, Gilbert D, Lawrence D.

Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):E218; author reply E219. doi: 10.1073/pnas.1105075108. Epub 2011 May 31. No abstract available.

30.

MLH1-93G > A is a risk factor for MSI colorectal cancer.

Whiffin N, Broderick P, Lubbe SJ, Pittman AM, Penegar S, Chandler I, Houlston RS.

Carcinogenesis. 2011 Aug;32(8):1157-61. doi: 10.1093/carcin/bgr089. Epub 2011 May 11.

PMID:
21565826
31.

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.

Houlston RS, Cheadle J, Dobbins SE, Tenesa A, Jones AM, Howarth K, Spain SL, Broderick P, Domingo E, Farrington S, Prendergast JG, Pittman AM, Theodoratou E, Smith CG, Olver B, Walther A, Barnetson RA, Churchman M, Jaeger EE, Penegar S, Barclay E, Martin L, Gorman M, Mager R, Johnstone E, Midgley R, Niittymäki I, Tuupanen S, Colley J, Idziaszczyk S; COGENT Consortium, Thomas HJ, Lucassen AM, Evans DG, Maher ER; CORGI Consortium; COIN Collaborative Group; COINB Collaborative Group, Maughan T, Dimas A, Dermitzakis E, Cazier JB, Aaltonen LA, Pharoah P, Kerr DJ, Carvajal-Carmona LG, Campbell H, Dunlop MG, Tomlinson IP.

Nat Genet. 2010 Nov;42(11):973-7. doi: 10.1038/ng.670. Epub 2010 Oct 24.

32.

Evaluation of germline BMP4 mutation as a cause of colorectal cancer.

Lubbe SJ, Pittman AM, Matijssen C, Twiss P, Olver B, Lloyd A, Qureshi M, Brown N, Nye E, Stamp G, Blagg J, Houlston RS.

Hum Mutat. 2011 Jan;32(1):E1928-38. doi: 10.1002/humu.21376. Epub 2010 Oct 14.

33.

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Pittman AM, Naranjo S, Jalava SE, Twiss P, Ma Y, Olver B, Lloyd A, Vijayakrishnan J, Qureshi M, Broderick P, van Wezel T, Morreau H, Tuupanen S, Aaltonen LA, Alonso ME, Manzanares M, Gavilán A, Visakorpi T, Gómez-Skarmeta JL, Houlston RS.

PLoS Genet. 2010 Sep 16;6(9):e1001126. doi: 10.1371/journal.pgen.1001126.

34.

Hydrogen/deuterium exchange- and protease digestion-based screening assay for protein-ligand binding detection.

Hopper ED, Pittman AM, Tucker CL, Campa MJ, Patz EF Jr, Fitzgerald MC.

Anal Chem. 2009 Aug 15;81(16):6860-7. doi: 10.1021/ac900854t.

35.

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.

Crowther-Swanepoel D, Broderick P, Ma Y, Robertson L, Pittman AM, Price A, Twiss P, Vijayakrishnan J, Qureshi M, Dyer MJ, Matutes E, Dearden C, Catovsky D, Houlston RS.

Hum Mol Genet. 2010 May 1;19(9):1840-5. doi: 10.1093/hmg/ddq044. Epub 2010 Feb 1.

PMID:
20123861
36.

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.

Pittman AM, Twiss P, Broderick P, Lubbe S, Chandler I, Penegar S, Houlston RS.

Int J Cancer. 2009 Oct 1;125(7):1622-5. doi: 10.1002/ijc.24542.

37.

A genetic test for yeast two-hybrid bait competency using RanBPM.

Tucker CL, Peteya LA, Pittman AM, Zhong J.

Genetics. 2009 Aug;182(4):1377-9. doi: 10.1534/genetics.109.103069. Epub 2009 Jun 1.

38.

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.

Pittman AM, Naranjo S, Webb E, Broderick P, Lips EH, van Wezel T, Morreau H, Sullivan K, Fielding S, Twiss P, Vijayakrishnan J, Casares F, Qureshi M, Gómez-Skarmeta JL, Houlston RS.

Genome Res. 2009 Jun;19(6):987-93. doi: 10.1101/gr.092668.109. Epub 2009 Apr 24.

39.

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

COGENT Study, Houlston RS, Webb E, Broderick P, Pittman AM, Di Bernardo MC, Lubbe S, Chandler I, Vijayakrishnan J, Sullivan K, Penegar S; Colorectal Cancer Association Study Consortium, Carvajal-Carmona L, Howarth K, Jaeger E, Spain SL, Walther A, Barclay E, Martin L, Gorman M, Domingo E, Teixeira AS; CoRGI Consortium, Kerr D, Cazier JB, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Tomlinson IP, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Cetnarskyj R, Porteous ME, Pharoah PD, Koessler T, Hampe J, Buch S, Schafmayer C, Tepel J, Schreiber S, Völzke H, Chang-Claude J, Hoffmeister M, Brenner H, Zanke BW, Montpetit A, Hudson TJ, Gallinger S, Campbell H, Dunlop MG.

Nat Genet. 2008 Dec;40(12):1426-35. doi: 10.1038/ng.262. Epub 2008 Nov 16.

40.

In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.

Hopper ED, Pittman AM, Fitzgerald MC, Tucker CL.

J Biol Chem. 2008 Nov 7;283(45):30493-502. doi: 10.1074/jbc.M803525200. Epub 2008 Sep 9.

41.

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.

Di Bernardo MC, Crowther-Swanepoel D, Broderick P, Webb E, Sellick G, Wild R, Sullivan K, Vijayakrishnan J, Wang Y, Pittman AM, Sunter NJ, Hall AG, Dyer MJ, Matutes E, Dearden C, Mainou-Fowler T, Jackson GH, Summerfield G, Harris RJ, Pettitt AR, Hillmen P, Allsup DJ, Bailey JR, Pratt G, Pepper C, Fegan C, Allan JM, Catovsky D, Houlston RS.

Nat Genet. 2008 Oct;40(10):1204-10. doi: 10.1038/ng.219. Epub 2008 Aug 31.

PMID:
18758461
42.

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.

Pittman AM, Webb E, Carvajal-Carmona L, Howarth K, Di Bernardo MC, Broderick P, Spain S, Walther A, Price A, Sullivan K, Twiss P, Fielding S, Rowan A, Jaeger E, Vijayakrishnan J, Chandler I, Penegar S, Qureshi M, Lubbe S, Domingo E, Kemp Z, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop T, Gray R, Maher ER, Lucassen A, Kerr D, Evans GR; CORGI Consortium, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen LA, Cazier JB, Tomlinson IP, Houlston RS.

Hum Mol Genet. 2008 Dec 1;17(23):3720-7. doi: 10.1093/hmg/ddn267. Epub 2008 Aug 27.

PMID:
18753146
43.

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.

Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, Spain S, Lubbe S, Walther A, Sullivan K, Jaeger E, Fielding S, Rowan A, Vijayakrishnan J, Domingo E, Chandler I, Kemp Z, Qureshi M, Farrington SM, Tenesa A, Prendergast JG, Barnetson RA, Penegar S, Barclay E, Wood W, Martin L, Gorman M, Thomas H, Peto J, Bishop DT, Gray R, Maher ER, Lucassen A, Kerr D, Evans DG; CORGI Consortium, Schafmayer C, Buch S, Völzke H, Hampe J, Schreiber S, John U, Koessler T, Pharoah P, van Wezel T, Morreau H, Wijnen JT, Hopper JL, Southey MC, Giles GG, Severi G, Castellví-Bel S, Ruiz-Ponte C, Carracedo A, Castells A; EPICOLON Consortium, Försti A, Hemminki K, Vodicka P, Naccarati A, Lipton L, Ho JW, Cheng KK, Sham PC, Luk J, Agúndez JA, Ladero JM, de la Hoya M, Caldés T, Niittymäki I, Tuupanen S, Karhu A, Aaltonen L, Cazier JB, Campbell H, Dunlop MG, Houlston RS.

Nat Genet. 2008 May;40(5):623-30. doi: 10.1038/ng.111. Epub 2008 Mar 30.

PMID:
18372905
44.

CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population.

Pittman AM, Broderick P, Sullivan K, Fielding S, Webb E, Penegar S, Tomlinson I, Houlston RS.

Br J Cancer. 2008 Apr 22;98(8):1434-6. doi: 10.1038/sj.bjc.6604314. Epub 2008 Mar 25.

45.

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Vandrovcova J, Pittman AM, Malzer E, Abou-Sleiman PM, Lees AJ, Wood NW, de Silva R.

Neurobiol Aging. 2009 Sep;30(9):1477-82. Epub 2007 Dec 26.

PMID:
18162161
46.

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O; CORGI Consortium, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS.

Nat Genet. 2007 Nov;39(11):1315-7. Epub 2007 Oct 14.

PMID:
17934461
47.

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.

Williams DR, Pittman AM, Revesz T, Lees AJ, de Silva R.

Mov Disord. 2007 Apr 30;22(6):895-7.

PMID:
17274033
48.

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.

Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J.

Neurobiol Dis. 2007 Mar;25(3):561-70. Epub 2006 Dec 15.

PMID:
17174556
49.

Untangling the tau gene association with neurodegenerative disorders.

Pittman AM, Fung HC, de Silva R.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R188-95. Review.

PMID:
16987883
50.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

PMID:
16906163

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