Found: 21

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  • Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

    Published in:
    2021
    By:
    • Seabrook, Amanda J.;
    • Harris, Jessica E.;
    • Velosa, Sofia B.;
    • Kim, Edward;
    • McInerney-Leo, Aideen M.;
    • Dwight, Trisha;
    • Hockings, Jason I.;
    • Hockings, Nicholas G.;
    • Kirk, Judy;
    • Leo, Paul J.;
    • Love, Amanda J.;
    • Luxford, Catherine;
    • Marshall, Mhairi;
    • Mete, Ozgur;
    • Pennisi, David J.;
    • Brown, Matthew A.;
    • Gill, Anthony J.;
    • Hockings, Gregory I.;
    • Clifton-Bligh, Roderick J.;
    • Duncan, Emma L.
    Publication type:
    journal article

  • Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215
    By:
    • McInerney‐Leo, Aideen M.;
    • Wheeler, Lawrie;
    • Marshall, Mhairi S.;
    • Anderson, Lisa K.;
    • Zankl, Andreas;
    • Brown, Matthew A.;
    • Leo, Paul J.;
    • Wicking, Carol;
    • Duncan, Emma L.
    Publication type:
    Article

  • Correction: Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study.

    Published in:
    2018
    By:
    • Leo, Paul J.;
    • Madeleine, Margaret M.;
    • Wang, Sophia;
    • Schwartz, Stephen M.;
    • Newell, Felicity;
    • Pettersson-Kymmer, Ulrika;
    • Hemminki, Kari;
    • Hallmans, Goran;
    • Tiews, Sven;
    • Steinberg, Winfried;
    • Rader, Janet S.;
    • Castro, Felipe;
    • Safaeian, Mahboobeh;
    • Franco, Eduardo L.;
    • Coutlée, François;
    • Ohlsson, Claes;
    • Cortes, Adrian;
    • Marshall, Mhairi;
    • Mukhopadhyay, Pamela;
    • Cremin, Katie
    Publication type:
    Correction Notice

  • Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006866
    By:
    • Leo, Paul J.;
    • Madeleine, Margaret M.;
    • Wang, Sophia;
    • Schwartz, Stephen M.;
    • Newell, Felicity;
    • Kymmer, Ulrika;
    • Hemminki, Kari;
    • Hallmans, Goran;
    • Tiews, Sven;
    • Steinberg, Winfried;
    • Rader, Janet S.;
    • Castro, Felipe;
    • Safaeian, Mahboobeh;
    • Franco, Eduardo L.;
    • Coutlée, François;
    • Ohlsson, Claes;
    • Cortes, Adrian;
    • Marshall, Mhairi;
    • Mukhopadhyay, Pamela;
    • Cremin, Katie
    Publication type:
    Article

  • Pfam: clans, web tools and services.

    Published in:
    Nucleic Acids Research, 2006, v. 34, n. suppl 1, p. d247, doi. 10.1093/nar/gkj149
    By:
    • Finn, Robert D.;
    • Mistry, Jaina;
    • Schuster-Böckler, Benjamin;
    • Griffiths-Jones, Sam;
    • Hollich, Volker;
    • Lassmann, Timo;
    • Moxon, Simon;
    • Marshall, Mhairi;
    • Khanna, Ajay;
    • Durbin, Richard;
    • Eddy, Sean R.;
    • Sonnhammer, Erik L. L.;
    • Bateman, Alex
    Publication type:
    Article

  • Rfam: annotating non-coding RNAs in complete genomes.

    Published in:
    Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d121
    By:
    • Griffiths-Jones, Sam;
    • Moxon, Simon;
    • Marshall, Mhairi;
    • Khanna, Ajay;
    • Eddy, Sean R.;
    • Bateman, Alex
    Publication type:
    Article

  • The Pfam protein families database.

    Published in:
    Nucleic Acids Research, 2004, v. 32, n. suppl 1, p. d138
    By:
    • Bateman, Alex;
    • Coin, Lachlan;
    • Durbin, Richard;
    • Finn, Robert D.;
    • Hollich, Volker;
    • Griffiths‐Jones, Sam;
    • Khanna, Ajay;
    • Marshall, Mhairi;
    • Moxon, Simon;
    • Sonnhammer, Erik L. L.;
    • Studholme, David J.;
    • Yeats, Corin;
    • Eddy, Sean R.
    Publication type:
    Article

  • Rfam: an RNA family database.

    Published in:
    Nucleic Acids Research, 2003, v. 31, n. 1, p. 439, doi. 10.1093/nar/gkg006
    By:
    • Griffiths-Jones, Sam;
    • Bateman, Alex;
    • Marshall, Mhairi;
    • Khanna, Ajay;
    • Eddy, Sean R.
    Publication type:
    Article

  • The Pfam Protein Families Database.

    Published in:
    Nucleic Acids Research, 2002, v. 30, n. 1, p. 276, doi. 10.1093/nar/30.1.276
    By:
    • Bateman, Alex;
    • Birney, Ewan;
    • Cerruti, Lorenzo;
    • Durbin, Richard;
    • Etwiller, Laurence;
    • Eddy, Sean R.;
    • Griffiths-Jones, Sam;
    • Howe, Kevin L.;
    • Marshall, Mhairi;
    • Sonnhammer, Erik L. L.
    Publication type:
    Article

  • Comparative Pathogenomics Reveals Horizontally Acquired Novel Virulence Genes in Fungi Infecting Cereal Hosts.

    Published in:
    PLoS Pathogens, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.ppat.1002952
    By:
    • Gardiner, Donald M.;
    • McDonald, Megan C.;
    • Covarelli, Lorenzo;
    • Solomon, Peter S.;
    • Rusu, Anca G.;
    • Marshall, Mhairi;
    • Kazan, Kemal;
    • Chakraborty, Sukumar;
    • McDonald, Bruce A.;
    • Manners, John M.
    Publication type:
    Article

  • Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 24, p. 2393, doi. 10.1093/hmg/ddab172
    By:
    • McInerney-Leo, Aideen M.;
    • Hui Yi Chew;
    • Inglis, Po-Ling;
    • Leo, Paul J.;
    • Joseph, Shannon R.;
    • Cooper, Caroline L.;
    • Satomi Okano;
    • Hassall, Tim;
    • Anderson, Lisa K.;
    • Bowman, Rayleen V.;
    • Gattas, Michael;
    • Harris, Jessica E.;
    • Marshall, Mhairi S.;
    • Shaw, Janet G.;
    • Wheeler, Lawrie;
    • Yang, Ian A.;
    • Brown, Matthew A.;
    • Fong, Kwun M.;
    • Simpson, Fiona;
    • Duncan, Emma L.
    Publication type:
    Article

  • Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 5, p. 1234, doi. 10.1093/hmg/ddu534
    By:
    • McInerney-Leo, Aideen M.;
    • Sparrow, Duncan B.;
    • Harris, Jessica E.;
    • Gardiner, Brooke B.;
    • Marshall, Mhairi S.;
    • O'Reilly, Victoria C.;
    • Shi, Hongjun;
    • Brown, Matthew A.;
    • Leo, Paul J.;
    • Zankl, Andreas;
    • Dunwoodie, Sally L.;
    • Duncan, Emma L.
    Publication type:
    Article

  • Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 8, p. 1625, doi. 10.1093/hmg/ddt012
    By:
    • Sparrow, Duncan B.;
    • McInerney-Leo, Aideen;
    • Gucev, Zoran S.;
    • Gardiner, Brooke;
    • Marshall, Mhairi;
    • Leo, Paul J.;
    • Chapman, Deborah L.;
    • Tasic, Velibor;
    • Shishko, Abduhadi;
    • Brown, Matthew A.;
    • Duncan, Emma L.;
    • Dunwoodie, Sally L.
    Publication type:
    Article

  • HLA Alleles Associated With Risk of Ankylosing Spondylitis and Rheumatoid Arthritis Influence the Gut Microbiome.

    Published in:
    Arthritis & Rheumatology, 2019, v. 71, n. 10, p. 1642, doi. 10.1002/art.40917
    By:
    • Asquith, Mark;
    • Sternes, Peter R.;
    • Costello, Mary‐Ellen;
    • Karstens, Lisa;
    • Diamond, Sarah;
    • Martin, Tammy M.;
    • Li, Zhixiu;
    • Marshall, Mhairi S.;
    • Spector, Timothy D.;
    • Cao, Kim‐Anh;
    • Rosenbaum, James T.;
    • Brown, Matthew A.
    Publication type:
    Article

  • Brief Report: Intestinal Dysbiosis in Ankylosing Spondylitis.

    Published in:
    Arthritis & Rheumatology, 2015, v. 67, n. 3, p. 686, doi. 10.1002/art.38967
    By:
    • Costello, Mary‐Ellen;
    • Ciccia, Francesco;
    • Willner, Dana;
    • Warrington, Nicole;
    • Robinson, Philip C.;
    • Gardiner, Brooke;
    • Marshall, Mhairi;
    • Kenna, Tony J.;
    • Triolo, Giovanni;
    • Brown, Matthew A.
    Publication type:
    Article

  • A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.

    Published in:
    Journal of Bone & Mineral Research, 2020, v. 35, n. 1, p. 92, doi. 10.1002/jbmr.3875
    By:
    • Gregson, Celia L;
    • Bergen, Dylan J. M.;
    • Leo, Paul;
    • Sessions, Richard B;
    • Wheeler, Lawrie;
    • Hartley, April;
    • Youlten, Scott;
    • Croucher, Peter I;
    • McInerney‐Leo, Aideen M;
    • Fraser, William;
    • Tang, Jonathan CY;
    • Anderson, Lisa;
    • Marshall, Mhairi;
    • Sergot, Leon;
    • Paternoster, Lavinia;
    • Davey Smith, George;
    • Brown, Matthew A;
    • Hammond, Chrissy;
    • Kemp, John P;
    • Tobias, Jon H
    Publication type:
    Article

  • Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

    Published in:
    Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1324, doi. 10.1002/jbmr.3695
    By:
    • Gorvin, Caroline M;
    • Loh, Nellie Y;
    • Stechman, Michael J;
    • Falcone, Sara;
    • Hannan, Fadil M;
    • Ahmad, Bushra N;
    • Piret, Sian E;
    • Reed, Anita AC;
    • Jeyabalan, Jeshmi;
    • Leo, Paul;
    • Marshall, Mhairi;
    • Sethi, Siddharth;
    • Bass, Paul;
    • Roberts, Ian;
    • Sanderson, Jeremy;
    • Wells, Sara;
    • Hough, Tertius A;
    • Bentley, Liz;
    • Christie, Paul T;
    • Simon, Michelle M
    Publication type:
    Article

  • An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

    Published in:
    Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 497, doi. 10.1002/jbmr.3624
    By:
    • Gorvin, Caroline M;
    • Ahmad, Bushra N;
    • Stechman, Michael J;
    • Loh, Nellie Y;
    • Hough, Tertius A;
    • Leo, Paul;
    • Marshall, Mhairi;
    • Sethi, Siddharth;
    • Bentley, Liz;
    • Piret, Sian E;
    • Reed, Anita;
    • Jeyabalan, Jeshmi;
    • Christie, Paul T;
    • Wells, Sara;
    • Simon, Michelle M;
    • Mallon, Ann‐Marie;
    • Schulz, Herbert;
    • Huebner, Norbert;
    • Brown, Matthew A;
    • Cox, Roger D
    Publication type:
    Article

  • HLA and KIR Associations of Cervical Neoplasia.

    Published in:
    2018
    By:
    • Bao, Xiao;
    • Hanson, Aimee L;
    • Madeleine, Margaret M;
    • Wang, Sophia S;
    • Schwartz, Stephen M;
    • Newell, Felicity;
    • Pettersson-Kymmer, Ulrika;
    • Hemminki, Kari;
    • Tiews, Sven;
    • Steinberg, Winfried;
    • Rader, Janet S;
    • Castro, Felipe;
    • Safaeian, Mahboobeh;
    • Franco, Eduardo L;
    • Coutlée, François;
    • Ohlsson, Claes;
    • Cortes, Adrian;
    • Marshall, Mhairi;
    • Mukhopadhyay, Pamela;
    • Cremin, Katie
    Publication type:
    journal article

  • A census of human cancer genes.

    Published in:
    Nature Reviews Cancer, 2004, v. 4, n. 3, p. 177, doi. 10.1038/nrc1299
    By:
    • Futreal, P. Andrew;
    • Coin, Lachlan;
    • Marshall, Mhairi;
    • Down, Thomas;
    • Hubbard, Timothy;
    • Wooster, Richard;
    • Rahman, Nazneen;
    • Stratton, Michael R.
    Publication type:
    Article

  • Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

    Published in:
    Clinical Endocrinology, 2014, v. 80, n. 1, p. 25, doi. 10.1111/cen.12331
    By:
    • McInerney‐Leo, Aideen M.;
    • Marshall, Mhairi S.;
    • Gardiner, Brooke;
    • Benn, Diana E.;
    • McFarlane, Janelle;
    • Robinson, Bruce G.;
    • Brown, Matthew A.;
    • Leo, Paul J.;
    • Clifton‐Bligh, Roderick J.;
    • Duncan, Emma L.
    Publication type:
    Article