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Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes.
Published in:
International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2327, doi. 10.3390/ijms19082327
By:
- Ye, Sunjie;
- Wheeler, May C.;
- McLaughlan, James R.;
- Tamang, Abiral;
- Diggle, Christine P.;
- Cespedes, Oscar;
- Markham, Alex F.;
- Coletta, P. Louise;
- Evans, Stephen D.
Publication type:
Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Published in:
Nature Genetics, 2011, v. 43, n. 12, p. 1189, doi. 10.1038/ng.995
By:
- Logan, Clare V;
- Lucke, Barbara;
- Pottinger, Caroline;
- Abdelhamed, Zakia A;
- Parry, David A;
- Szymanska, Katarzyna;
- Diggle, Christine P;
- Riesen, Anne van;
- Morgan, Joanne E;
- Markham, Grace;
- Ellis, Ian;
- Manzur, Adnan Y;
- Markham, Alexander F;
- Shires, Mike;
- Helliwell, Tim;
- Scoto, Mariacristina;
- Hübner, Christoph;
- Bonthron, David T;
- Taylor, Graham R;
- Sheridan, Eamonn
Publication type:
Article
Corrigendum: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Published in:
2008
By:
- Uppal, Sandeep;
- Diggle, Christine P;
- Carr, Ian M;
- Fishwick, Colin W G;
- Ahmed, Mushtaq;
- Ibrahim, Gamal H;
- Helliwell, Philip S;
- Latos-Bieleńska, Anna;
- Phillips, Simon E V;
- Markham, Alexander F;
- Bennett, Christopher P;
- Bonthron, David T
Publication type:
Correction Notice
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Published in:
Nature Genetics, 2008, v. 40, n. 6, p. 789, doi. 10.1038/ng.153
By:
- Uppal, Sandeep;
- Diggle, Christine P.;
- Carr, Ian M.;
- Fishwick, Colin W. G.;
- Ahmed, Mushtaq;
- Ibrahim, Gamal H.;
- Helliwell, Philip S.;
- Latos-Bieleńska, Anna;
- Phillips, Simon E. V.;
- Markham, Alexander F.;
- Bennett, Christopher P.;
- Bonthron, David T.
Publication type:
Article
Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043466
By:
- Carr, Ian M.;
- Diggle, Christine P.;
- Khan, Kamron;
- Inglehearn, Chris;
- McKibbin, Martin;
- Bonthron, David T.;
- Markham, Alexander F.;
- Anwar, Rashida;
- Dobbie, Angus;
- Pena, Sergio D. J.;
- Ali, Manir;
- Adamovic, Tatjana
Publication type:
Article
An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas.
Published in:
BMC Clinical Pathology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1472-6890-13-32
By:
- Touqan, Nader;
- Diggle, Christine P.;
- Verghese, Edlo T.;
- Perry, Sarah;
- Horgan, Kieran;
- Merchant, William;
- Anwar, Rashida;
- Markham, Alexander F.;
- Carr, Ian M.;
- Achuthan, Rajgopal
Publication type:
Article
DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining.
Published in:
Nucleic Acids Research, 2004, v. 32, n. 17, p. 5249, doi. 10.1093/nar/gkh842
By:
- Bentley, Johanne;
- Diggle, Christine P.;
- Harnden, Patricia;
- Knowles, Margaret A.;
- Kiltie, Anne E.
Publication type:
Article
Development of a rapid, small‐scale DNA repair assay for use on clinical samples.
Published in:
Nucleic Acids Research, 2003, v. 31, n. 15, p. e83, doi. 10.1093/nar/gng083
By:
- Diggle, Christine P.;
- Bentley, Johanne;
- Kiltie, Anne E.
Publication type:
Article
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
Published in:
Rheumatology, 2010, v. 49, n. 6, p. 1056, doi. 10.1093/rheumatology/keq048
By:
- Diggle, Christine P.;
- Carr, Ian M.;
- Zitt, Emanuel;
- Wusik, Katie;
- Hopkin, Robert J.;
- Prada, Carlos E.;
- Calabrese, Olga;
- Rittinger, Olaf;
- Punaro, Marilynn G.;
- Markham, Alexander F.;
- Bonthron, David T.
Publication type:
Article
Role of p53 in the responses of human urothelial cells to genotoxic damage.
Published in:
International Journal of Cancer, 2001, v. 93, n. 2, p. 199, doi. 10.1002/ijc.1331
By:
- Diggle, Christine P.;
- Pitt, Eva;
- Harnden, Patricia;
- Trejdosiewicz, Ludwik K.;
- Southgate, Jennifer
Publication type:
Article
Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome.
Published in:
Nature Communications, 2013, v. 4, n. 12, p. 2929, doi. 10.1038/ncomms3929
By:
- Lanaspa, Miguel A.;
- Ishimoto, Takuji;
- Li, Nanxing;
- Cicerchi, Christina;
- Orlicky, David J.;
- Ruzycki, Philip;
- Rivard, Christopher;
- Inaba, Shinichiro;
- Roncal-Jimenez, Carlos A.;
- Bales, Elise S.;
- Diggle, Christine P.;
- Asipu, Aruna;
- Petrash, J Mark;
- Kosugi, Tomoki;
- Maruyama, Shoichi;
- Sanchez-Lozada, Laura G.;
- McManaman, James L.;
- Bonthron, David T.;
- Sautin, Yuri Y.;
- Johnson, Richard J.
Publication type:
Article
Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome.
Published in:
Nature Communications, 2013, v. 4, n. 9, p. 2434, doi. 10.1038/ncomms3434
By:
- Lanaspa, Miguel A.;
- Ishimoto, Takuji;
- Li, Nanxing;
- Cicerchi, Christina;
- Orlicky, David J.;
- Ruzicky, Philip;
- Rivard, Christopher;
- Inaba, Shinichiro;
- Roncal-Jimenez, Carlos A.;
- Bales, Elise S.;
- Diggle, Christine P.;
- Asipu, Aruna;
- Petrash, J. Mark;
- Kosugi, Tomoki;
- Maruyama, Shoichi;
- Sanchez-Lozada, Laura G.;
- McManaman, James L.;
- Bonthron, David T.;
- Sautin, Yuri Y.;
- Johnson, Richard J.
Publication type:
Article
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus.
Published in:
PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004577
By:
- Diggle, Christine P.;
- Moore, Daniel J.;
- Mali, Girish;
- zur Lage, Petra;
- Ait-Lounis, Aouatef;
- Schmidts, Miriam;
- Shoemark, Amelia;
- Garcia Munoz, Amaya;
- Halachev, Mihail R.;
- Gautier, Philippe;
- Yeyati, Patricia L.;
- Bonthron, David T.;
- Carr, Ian M.;
- Hayward, Bruce;
- Markham, Alexander F.;
- Hope, Jilly E.;
- von Kriegsheim, Alex;
- Mitchison, Hannah M.;
- Jackson, Ian J.;
- Durand, Bénédicte
Publication type:
Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface.
Published in:
Human Mutation, 2014, v. 35, n. 4, p. 434, doi. 10.1002/humu.22490
By:
- Watson, Christopher M.;
- Crinnion, Laura A.;
- Morgan, Joanne E.;
- Harrison, Sally M.;
- Diggle, Christine P.;
- Adlard, Julian;
- Lindsay, Helen A.;
- Camm, Nick;
- Charlton, Ruth;
- Sheridan, Eamonn;
- Bonthron, David T.;
- Taylor, Graham R.;
- Carr, Ian M.
Publication type:
Article
Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data.
Published in:
Human Mutation, 2013, v. 34, n. 7, p. 945, doi. 10.1002/humu.22322
By:
- Carr, Ian M.;
- Morgan, Joanne;
- Watson, Christopher;
- Melnik, Svitlana;
- Diggle, Christine P.;
- Logan, Clare V.;
- Harrison, Sally M.;
- Taylor, Graham R.;
- Pena, Sergio D.J.;
- Markham, Alexander F.;
- Alkuraya, Fowzan S.;
- Black, Graeme C.M.;
- Ali, Manir;
- Bonthron, David T.
Publication type:
Article
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 847, doi. 10.1002/humu.22311
By:
- Ingham, Danielle;
- Diggle, Christine P.;
- Berry, Ian;
- Bristow, Claire A.;
- Hayward, Bruce E.;
- Rahman, Nazneen;
- Markham, Alexander F.;
- Sheridan, Eamonn G.;
- Bonthron, David T.;
- Carr, Ian M.
Publication type:
Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1175, doi. 10.1002/humu.22111
By:
- Diggle, Christine P.;
- Parry, David A.;
- Logan, Clare V.;
- Laissue, Paul;
- Rivera, Carolina;
- Restrepo, Carlos Martín;
- Fonseca, Dora J.;
- Morgan, Joanne E.;
- Allanore, Yannick;
- Fontenay, Michaela;
- Wipff, Julien;
- Varret, Mathilde;
- Gibault, Laure;
- Dalantaeva, Nadezhda;
- Korbonits, Márta;
- Zhou, Bowen;
- Yuan, Gang;
- Harifi, Ghita;
- Cefle, Kivanc;
- Palanduz, Sukru
Publication type:
Article
Identification of autosomal recessive disease loci using out-bred nuclear families.
Published in:
Human Mutation, 2012, v. 33, n. 2, p. 338, doi. 10.1002/humu.21645
By:
- Carr, Ian M.;
- Diggle, Christine P.;
- Touqan, Nader;
- Anwar, Rashida;
- Sheridan, Eamonn G.;
- Bonthron, David T.;
- Johnson, Colin A.;
- Ali, Manir;
- Markham, Alexander F.
Publication type:
Article
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3489, doi. 10.3390/ijms25063489
By:
- Chang, Leon;
- Motley, Rebecca;
- Daly, Catherine L.;
- Diggle, Christine P.;
- Hopkins, Philip M.;
- Shaw, Marie-Anne
Publication type:
Article
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.
Published in:
PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174264
By:
- Diggle, Christine P.;
- Martinez-Garay, Isabel;
- Molnar, Zoltan;
- Brinkworth, Martin H.;
- White, Ed;
- Fowler, Ewan;
- Hughes, Ruth;
- Hayward, Bruce E.;
- Carr, Ian M.;
- Watson, Christopher M.;
- Crinnion, Laura;
- Asipu, Aruna;
- Woodman, Ben;
- Coletta, P. Louise;
- Markham, Alexander F.;
- Dear, T. Neil;
- Bonthron, David T.;
- Peckham, Michelle;
- Morrison, Ewan E.;
- Sheridan, Eamonn
Publication type:
Article

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