Works matching AU Pittman, Alan M.

Results: 34

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

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1928, doi. 10.1002/humu.21376

By:

Lubbe, Steven J.;
Pittman, Alan M.;
Matijssen, Cornelis;
Twiss, Philip;
Olver, Bianca;
Lloyd, Amy;
Qureshi, Mobshra;
Brown, Nathan;
Nye, Emma;
Stamp, Gordon;
Blagg, Julian;
Houlston, Richard S.

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

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

Published in:

JAMA Neurology, 2018, v. 75, n. 11, p. 1416, doi. 10.1001/jamaneurol.2018.1885

By:

Blauwendraat, Cornelis;
Reed, Xylena;
Kia, Demis A.;
Gan-Or, Ziv;
Lesage, Suzanne;
Pihlstrøm, Lasse;
Guerreiro, Rita;
Gibbs, J. Raphael;
Sabir, Marya;
Ahmed, Sarah;
Ding, Jinhui;
Alcalay, Roy N.;
Hassin-Baer, Sharon;
Pittman, Alan M.;
Brooks, Janet;
Edsall, Connor;
Hernandez, Dena G.;
Chung, Sun Ju;
Goldwurm, Stefano;
Toft, Mathias

Publication type:

Article

A 6.4 Mb Duplication of the a-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism Phenotype-Genotype Correlations.

Published in:

JAMA Neurology, 2014, v. 71, n. 9, p. 1162, doi. 10.1001/jamaneurol.2014.994

By:

Kara, Eleanna;
Kiely, Aoife P.;
Proukakis, Christos;
Giffin, Nicola;
Love, Seth;
Hehir, Jason;
Rantell, Khadija;
Pandraud, Amelie;
Hernandez, Dena G.;
Nacheva, Elizabeth;
Pittman, Alan M.;
Nalls, Mike A.;
Singleton, Andrew B.;
Revesz, Tamas;
Bhatia, Kailash P.;
Quinn, Niall;
Hardy, John;
Holton, Janice L.;
Houlden, Henry

Publication type:

Article

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

Published in:

2017

By:

Bettencourt, Conceição;
Salpietro, Vincenzo;
Efthymiou, Stephanie;
Chelban, Viorica;
Hughes, Deborah;
Pittman, Alan M.;
Federoff, Monica;
Bourinaris, Thomas;
Spilioti, Martha;
Deretzi, Georgia;
Kalantzakou, Triantafyllia;
Houlden, Henry;
Singleton, Andrew B.;
Xiromerisiou, Georgia

Publication type:

journal article

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

Published in:

Nature Genetics, 2010, v. 42, n. 11, p. 973, doi. 10.1038/ng.670

By:

Houlston, Richard S.;
Cheadle, Jeremy;
Dobbins, Sara E.;
Tenesa, Albert;
Jones, Angela M.;
Howarth, Kimberley;
Spain, Sarah L.;
Broderick, Peter;
Domingo, Enric;
Farrington, Susan;
Prendergast, James G. D.;
Pittman, Alan M.;
Theodoratou, Evi;
Smith, Christopher G.;
Olver, Bianca;
Walther, Axel;
Barnetson, Rebecca A.;
Churchman, Michael;
Jaeger, Emma E. M.;
Penegar, Steven

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1426, doi. 10.1038/ng.262

By:

Houlston, Richard S;
Webb, Emily;
Broderick, Peter;
Pittman, Alan M;
Di Bernardo, Maria Chiara;
Lubbe, Steven;
Chandler, Ian;
Vijayakrishnan, Jayaram;
Sullivan, Kate;
Penegar, Steven;
Carvajal-Carmona, Luis;
Howarth, Kimberley;
Jaeger, Emma;
Spain, Sarah L;
Walther, Axel;
Barclay, Ella;
Martin, Lynn;
Gorman, Maggie;
Domingo, Enric;
Teixeira, Ana S

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 10, p. 1204, doi. 10.1038/ng.219

By:

Di Bernardo, Maria Chiara;
Crowther-Swanepoel, Dalemari;
Broderick, Peter;
Webb, Emily;
Sellick, Gabrielle;
Wild, Ruth;
Sullivan, Kate;
Vijayakrishnan, Jayaram;
Yufei Wang;
Pittman, Alan M.;
Sunter, Nicola J.;
Hall, Andrew G.;
Dyer, Martin J. S.;
Matutes, Estella;
Dearden, Claire;
Mainou-Fowler, Tryfonia;
Jackson, Graham H.;
Summerfield, Geoffrey;
Harris, Robert J.;
Pettitt, Andrew R.

Publication type:

Article

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

Published in:

Nature Genetics, 2008, v. 40, n. 5, p. 623, doi. 10.1038/ng.111

By:

Tomlinson, Ian P. M.;
Webb, Emily;
Carvajal-Carmona, Luis;
Broderick, Peter;
Howarth, Kimberley;
Pittman, Alan M.;
Spain, Sarah;
Lubbe, Steven;
Walther, Axel;
Sullivan, Kate;
Jaeger, Emma;
Fielding, Sarah;
Rowan, Andrew;
Vijayakrishnan, Jayaram;
Domingo, Enric;
Chandler, Ian;
Kemp, Zoe;
Qureshi, Mobshra;
Farrington, Susan M.;
Tenesa, Albert

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 11, p. 1315, doi. 10.1038/ng.2007.18

By:

Broderick, Peter;
Carvajal-Carmona, Luis;
Pittman, Alan M.;
Webb, Emily;
Howarth, Kimberley;
Rowan, Andrew;
Lubbe, Steven;
Spain, Sarah;
Sullivan, Kate;
Fielding, Sarah;
Jaeger, Emma;
Vijayakrishnan, Jayaram;
Kemp, Zoe;
Gorman, Maggie;
Chandler, Ian;
Papaemmanuil, Elli;
Penegar, Steven;
Wood, Wendy;
Sellick, Gabrielle;
Qureshi, Mobshra

Publication type:

Article

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

Published in:

Nature Genetics, 2006, v. 38, n. 9, p. 1032, doi. 10.1038/ng1858

By:

Shaw-Smith, Charles;
Pittman, Alan M;
Willatt, Lionel;
Martin, Howard;
Rickman, Lisa;
Gribble, Susan;
Curley, Rebecca;
Cumming, Sally;
Dunn, Carolyn;
Kalaitzopoulos, Dimitrios;
Porter, Keith;
Prigmore, Elena;
Krepischi-Santos, Ana C. V.;
Varela, Monica C.;
Koiffmann, Celia P.;
Lees, Andrew J.;
Rosenberg, Carla;
Firth, Helen V.;
de Silva, Rohan;
Carter, Nigel P.

Publication type:

Article

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

Published in:

2007

By:

Williams, David R.;
Pittman, Alan M.;
Revesz, Tamas;
Lees, Andrew J.;
de Silva, Rohan

Publication type:

journal article

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

Published in:

Carcinogenesis, 2011, v. 32, n. 8, p. 1157, doi. 10.1093/carcin/bgr089

By:

Whiffin, Nicola;
Broderick, Peter;
Lubbe, Steven J.;
Pittman, Alan M.;
Penegar, Steven;
Chandler, Ian;
Houlston, Richard S.

Publication type:

Article

The Intellectual Disability Risk Gene Kdm5b Regulates Long-Term Memory Consolidation in the Hippocampus.

Published in:

Journal of Neuroscience, 2024, v. 44, n. 19, p. 1, doi. 10.1523/JNEUROSCI.1544-23.2024

By:

Pérez-Sisqués, Leticia;
Bhatt, Shail U.;
Matuleviciute, Rugile;
Gileadi, Talia E.;
Kramar, Eniko;
Graham, Andrew;
Garcia, Franklin G.;
Keiser, Ashley;
Matheos, Dina P.;
Cain, James A.;
Pittman, Alan M.;
Andreae, Laura C.;
Fernandes, Cathy;
Wood, Marcelo A.;
Giese, K. Peter;
Basson, M. Albert

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2016, v. 25, n. 24, p. 5483, doi. 10.1093/hmg/ddw348

By:

Lubbe, Steven J.;
Escott-Price, Valentina;
Gibbs, J. Raphael;
Nalls, Mike A.;
Bras, Jose;
Price, T. Ryan;
Nicolas, Aude;
Jansen, Iris E.;
Mok, Kin Y.;
Pittman, Alan M.;
Tomkins, James E.;
Lewis, Patrick A.;
Noyce, Alastair J.;
Lesage, Suzanne;
Sharma, Manu;
Schiff, Elena R.;
Levine, Adam P.;
Brice, Alexis;
Gasser, Thomas;
Hardy, John

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5326, doi. 10.1093/hmg/ddv255

By:

Mencacci, Niccolo E.;
R'bibo, Léa;
Bandres-Ciga, Sara;
Carecchio, Miryam;
Zorzi, Giovanna;
Nardocci, Nardo;
Garavaglia, Barbara;
Batla, Amit;
Bhatia, Kailash P.;
Pittman, Alan M.;
Hardy, John;
Weissbach, Anne;
Klein, Christine;
Gasser, Thomas;
Lohmann, Ebba;
Wood, Nicholas W.

Publication type:

Article

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

Published in:

2019

By:

Tan, Manuela M X;
Malek, Naveed;
Lawton, Michael A;
Hubbard, Leon;
Pittman, Alan M;
Joseph, Theresita;
Hehir, Jason;
Swallow, Diane M A;
Grosset, Katherine A;
Marrinan, Sarah L;
Bajaj, Nin;
Barker, Roger A;
Burn, David J;
Bresner, Catherine;
Foltynie, Thomas;
Hardy, John;
Wood, Nicholas;
Ben-Shlomo, Yoav;
Grosset, Donald G;
Williams, Nigel M

Publication type:

journal article

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

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. e352, doi. 10.1093/brain/awu309

By:

Mencacci, Niccolo E.;
Pittman, Alan M.;
Isaias, Ioannis U.;
Hardy, John;
Klebe, Stephan;
Bhatia, Kailash P.;
Wood, Nicholas W.

Publication type:

Article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Published in:

2014

By:

Mencacci, Niccolò E;
Isaias, Ioannis U;
Reich, Martin M;
Ganos, Christos;
Plagnol, Vincent;
Polke, James M;
Bras, Jose;
Hersheson, Joshua;
Stamelou, Maria;
Pittman, Alan M;
Noyce, Alastair J;
Mok, Kin Y;
Opladen, Thomas;
Kunstmann, Erdmute;
Hodecker, Sybille;
Münchau, Alexander;
Volkmann, Jens;
Samnick, Samuel;
Sidle, Katie;
Nanji, Tina

Publication type:

journal article

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2480, doi. 10.1093/brain/awu179

By:

Mencacci, Niccolò E.;
Isaias, Ioannis U.;
Reich, Martin M.;
Ganos, Christos;
Plagnol, Vincent;
Polke, James M.;
Bras, Jose;
Hersheson, Joshua;
Stamelou, Maria;
Pittman, Alan M.;
Noyce, Alastair J.;
Mok, Kin Y.;
Opladen, Thomas;
Kunstmann, Erdmute;
Hodecker, Sybille;
Münchau, Alexander;
Volkmann, Jens;
Samnick, Samuel;
Sidle, Katie;
Nanji, Tina

Publication type:

Article

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

Published in:

International Journal of Cancer, 2009, v. 125, n. 7, p. 1622, doi. 10.1002/ijc.24542

By:

Pittman, Alan M.;
Twiss, Philip;
Broderick, Peter;
Lubbe, Steven;
Chandler, Ian;
Penegar, Steven;
Houlston, Richard S.

Publication type:

Article

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

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180467

By:

Nacheva, Elizabeth;
Grace, Colin;
Mokretar, Katya;
Soenmez, Aynur;
Ejaz, Ayesha;
Taanman, Jan-Willem;
Schapira, Anthony H.;
Proukakis, Christos;
Pittman, Alan M.;
Houlden, Henry;
Valli, Roberto;
Maserati, Emanuela;
Vattathil, Selina

Publication type:

Article

O2-02-02: The H1c risk haplotype of the MAPT gene is over-expressed in human temporal cortex relative to the other common alleles of MAPT

Published in:

2006

By:

Myers, Amanda J.;
Pittman, Alan M.;
Rohrer, Kristen;
Zhao, Alice;
Leung, Doris;
Bryden, Leslie;
Kaleem, Mona;
Marlowe, Lauren;
Chung Fung, Hon;
Lees, Andrew;
Morris, Chris M.;
de Silva, Rohan;
Hardy, John A.

Publication type:

Abstract

O2-02-02: The H1c risk haplotype of the MAPT gene is over-expressed in human temporal cortex relative to the other common alleles of MAPT

Published in:

2006

By:

Myers, Amanda J.;
Pittman, Alan M.;
Rohrer, Kristen;
Zhao, Alice;
Leung, Doris;
Bryden, Leslie;
Kaleem, Mona;
Marlowe, Lauren;
Chung Fung, Hon;
Lees, Andrew;
Morris, Chris M.;
de Silva, Rohan;
Hardy, John A.

Publication type:

Abstract

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

Published in:

Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238

By:

Trabzuni, Daniah;
Wray, Selina;
Vandrovcova, Jana;
Ramasamy, Adaikalavan;
Walker, Robert;
Smith, Colin;
Luk, Connie;
Gibbs, J. Raphael;
Dillman, Allissa;
Hernandez, Dena G.;
Arepalli, Sampath;
Singleton, Andrew B.;
Cookson, Mark R.;
Pittman, Alan M.;
de Silva, Rohan;
Weale, Michael E.;
Hardy, John;
Ryten, Mina

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2010, v. 19, n. 9, p. 1840, doi. 10.1093/hmg/ddq044

By:

Crowther-Swanepoel, Dalemari;
Broderick, Peter;
Ma, Yussanne;
Robertson, Lindsay;
Pittman, Alan M.;
Price, Amy;
Twiss, Philip;
Vijayakrishnan, Jayaram;
Qureshi, Mobshra;
Dyer, Martin J. S.;
Matutes, Estella;
Dearden, Claire;
Catovsky, Daniel;
Houlston, Richard S.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3720

By:

Pittman, Alan M.;
Webb, Emily;
Carvajal-Carmona, Luis;
Howarth, Kimberley;
Di Bernardo, Maria Chiara;
Broderick, Peter;
Spain, Sarah;
Walther, Axel;
Price, Amy;
Sullivan, Kate;
Twiss, Philip;
Fielding, Sarah;
Rowan, Andrew;
Jaeger, Emma;
Vijayakrishnan, Jayaram;
Chandler, Ian;
Penegar, Steven;
Qureshi, Mobshra;
Lubbe, Steven;
Domingo, Enric

Publication type:

Article

Untangling the tau gene association with neurodegenerative disorders.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 2, p. r188, doi. 10.1093/hmg/ddl190

By:

Pittman, Alan M.;
Fung, Hon-Chung;
de Silva, Rohan

Publication type:

Article

Untangling the tau gene association with neurodegenerative disorders.

Published in:

Human Molecular Genetics, 2006, v. 15, n. suppl_2, p. R188, doi. 10.1093/hmg/ddl190

By:

Pittman, Alan M.;
Fung, Hon-Chung;
de Silva, Rohan

Publication type:

Article

The structure of the tau haplotype in controls and in progressive supranuclear palsy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 12, p. 1267, doi. 10.1093/hmg/ddh138

By:

Pittman, Alan M.;
Myers, Amanda J.;
Duckworth, Jaime;
Bryden, Leslie;
Hanson, Melissa;
Abou-Sleiman, Patrick;
Wood, Nicholas W.;
Hardy, John;
Lees, Andrew;
de Silva, Rohan

Publication type:

Article

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Published in:

2022

By:

Bugiardini, Enrico;
Nunes, Andreia M.;
Oliveira-Santos, Ariany;
Dagda, Marisela;
Fontelonga, Tatiana M.;
Barraza-Flores, Pamela;
Pittman, Alan M.;
Morrow, Jasper M.;
Parton, Matthew;
Houlden, Henry;
Elliott, Perry M.;
Syrris, Petros;
Maas, Roderick P.;
Akhtar, Mohammed M.;
Küsters, Benno;
Raaphorst, Joost;
Schouten, Meyke;
Kamsteeg, Erik-Jan;
van Engelen, Baziel;
Hanna, Michael G.

Publication type:

journal article

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Published in:

Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1

By:

Horga, Alejandro;
Manole, Andreea;
Mitchell, Alice L.;
Bugiardini, Enrico;
Hargreaves, Iain P.;
Mowafi, Walied;
Bettencourt, Conceição;
Blakely, Emma L.;
He, Langping;
Polke, James M.;
Woodward, Catherine E.;
Dalla Rosa, Ilaria;
Shah, Sachit;
Pittman, Alan M.;
Quinlivan, Ros;
Reilly, Mary M.;
Taylor, Robert W.;
Holt, Ian J.;
Hanna, Michael G.;
Pitceathly, Robert D. S.

Publication type:

Article

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer.

Published in:

PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002105

By:

Tomlinson, Ian P. M.;
Carvajal-Carmona, Luis G.;
Dobbins, Sara E.;
Tenesa, Albert;
Jones, Angela M.;
Howarth, Kimberley;
Palles, Claire;
Broderick, Peter;
Jaeger, Emma E. M.;
Farrington, Susan;
Lewis, Annabelle;
Prendergast, James G. D.;
Pittman, Alan M.;
Theodoratou, Evropi;
Olver, Bianca;
Walker, Marion;
Penegar, Steven;
Barclay, Ella;
Whiffin, Nicola;
Martin, Lynn

Publication type:

Article