المؤلفون: Simon Stritt, Michael Laffan, Salih Tuna, Sylvia Richardson, David J. Perry, F. Lucy Raymond, Sjoert B. G. Jansen, Myrto Kostadima, Tadbir K. Bariana, Ilenia Simeoni, Steve Austin, Andrew D Mumford, Carolyn M. Millar, Christopher J. Penkett, Sandrine Marlin, Wendy N. Erber, Sol Schulman, William J. Astle, Keith Gomez, Bernhard Nieswandt, Rémi Favier, Sofia Papadia, Claire Lentaigne, Augusto Rendon, Sofie Ashford, Michele P. Lambert, Stephanie Maiwald, Tamam Bakchoul, Peter William Collins, Chris Van Geet, Ernest Turro, Paquita Nurden, Anne M. Kelly, Mary Mathias, Romina Petersen, Rutendo Mapeta, Jonathan Stephens, Daniel Greene, Sarah K Westbury, Chantal Thys, Kathleen Freson, Willem H. Ouwehand, Alan T. Nurden, Kathleen Stirrups, John Bradley

المساهمون: Turro Bassols, Ernest [0000-0002-1820-6563], Astle, William [0000-0001-8866-6672], Papadia, Sofia [0000-0002-9222-3812], Stephens, Jonathan [0000-0003-2020-9330], Tuna, Salih [0000-0003-3606-4367], Simeoni, Ilenia [0000-0001-5039-2194], Johnson, Kathleen [0000-0002-6823-3252], Rendon Restrepo, Augusto [0000-0001-8994-0039], Bradley, John [0000-0002-7774-8805], Raymond, Lucy [0000-0003-2652-3355], Richardson, Sylvia [0000-0003-1998-492X], Ouwehand, Willem [0000-0002-7744-1790], Apollo - University of Cambridge Repository, Medical Research Council (MRC), Medical Research Council

المصدر: Stritt, S, Nurden, P, Turro, E, Greene, D, Jansen, S B, Westbury, S K, Petersen, R, Astle, W J, Marlin, S, Bariana, T K, Kostadima, M, Lentaigne, C, Maiwald, S, Papadia, S, Kelly, A M, Stephens, J C, Penkett, C J, Ashford, S, Tuna, S, Austin, S, Bakchoul, T, Collins, P, Favier, R, Lambert, M P, Mathias, M, Millar, C M, Mapeta, R, Perry, D J, Schulman, S, Simeoni, I, Thys, C, Consortium, B-B, Gomez, K, Erber, W N, Stirrups, K, Rendon, A, Bradley, J R, van Geet, C, Raymond, F L, Laffan, M A, Nurden, A T, Nieswandt, B, Richardson, S, Freson, K, Ouwehand, W H & Mumford, A D 2016, ' A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss ', Blood, vol. 127, no. 23, pp. 2903-2914 . https://doi.org/10.1182Test/blood-2015-10-675629

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, 030204 cardiovascular system & hematology, Biochemistry, 0302 clinical medicine, Inside BLOOD Commentary, Platelet, DIAPH1, Cytoskeleton, Child, Exome sequencing, Cells, Cultured, Genetics, Cardiovascular Medicine And Haematology, Hematology, Syndrome, Middle Aged, Cell biology, Pedigree, Formins, Sensorineural hearing loss, Female, Adult, Adolescent, Clinical Sciences, Immunology, Biology, Filamentous actin, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, medicine, Humans, Genetic Predisposition to Disease, Hearing Loss, Genetic Association Studies, Adaptor Proteins, Signal Transducing, Aged, BRIDGE-BPD Consortium, Cell Biology, medicine.disease, Thrombocytopenia, 030104 developmental biology, HEK293 Cells, A549 Cells, Case-Control Studies, Mutation, biology.protein, Paediatrics And Reproductive Medicine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4f361e262ac7a1639eb6e0e9ebb7297Test
https://pubmed.ncbi.nlm.nih.gov/27282940Test

المؤلفون: Simeoni, I., Stephens, J.C., Hu, F.Y., Deevi, S.V.V., Megy, K., Bariana, T.K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M.J.A., Westbury, S.K., Greene, D., Papadia, S., Alessi, M.C., Attwood, A.P., Ballmaier, M., Baynam, G., Bermejo, E., Bertoli, M., Bray, P.F., Bury, L., Cattaneo, M., Collins, P., Daugherty, L.C., Favier, R., French, D.L., Furie, B., Gattens, M., Germeshausen, M., Ghevaert, C., Goodeve, A.C., Guerrero, J.A., Hampshire, D.J., Hart, D.P., Heemskerk, J.W.M., Henskens, Y.M.C., Hill, M., Hogg, N., Jolley, J.D., Kahr, W.H., Kelly, A.M., Kerr, R., Kostadima, M., Kunishima, S., Lambert, M.P., Liesner, R., Lopez, J.A., Mapeta, R.P., Mathias, M., Millar, C.M., Nathwani, A., Neerman-Arbez, M., Nurden, A.T., Nurden, P., Othman, M., Peerlinck, K., Perry, D.J., Poudel, P., Reitsma, P., Rondina, M.T., Smethurst, P.A., Stevenson, W., Szkotak, A., Tuna, S., Geet, C. van, Whitehorn, D., Wilcox, D.A., Zhang, B., Revel-Vilk, S., Gresele, P., Bellissimo, D.B., Penkett, C.J., Laffan, M.A., Mumford, A.D., Rendon, A., Gomez, K., Freson, K., Ouwehand, W.H., Turro, E.

المصدر: Blood

العلاقة: lumc-id: 34786536; https://hdl.handle.net/1887/114059Test

الإتاحة: https://doi.org/10.1182Test/blood-2015-12-688267
https://hdl.handle.net/1887/114059Test

المؤلفون: Debbie L. Hardie, W. Angenent, Kerstin Koch, Diego Miranda-Saavedra, Daphne C. Thijssen-Timmer, Clare M. Isacke, Thilo Winzer, Augusto Rendon, Nicola Foad, Christopher D. Buckley, Willem H. Ouwehand, Iain C. Macaulay, Cordelia Langford, Nicholas A. Watkins, Frank Dudbridge, Subhajyoti De, Kate Rice, Jennifer Jolley, Bernard de Bono, Sarah L. Morley, Peter D. Ellis, Wendy N. Erber, C. Ellen van der Schoot, Sarah A. Teichmann, Lorenz Wernisch, Arief Gusnanto, Niall C. Taylor, Berthold Göttgens, Stephen F. Garner, Antony P. Attwood, Marloes R. Tijssen

المساهمون: Landsteiner Laboratory, Clinical Haematology

المصدر: Blood, 113(19), e1-e9. American Society of Hematology

مصطلحات موضوعية: Cellular differentiation, Immunology, Gene Expression, Bone Marrow Cells, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Atlases as Topic, Gene expression, Cytotoxic T cell, Humans, Cell Lineage, Transcription factor, Gene, Cells, Cultured, 030304 developmental biology, Oligonucleotide Array Sequence Analysis, Genetics, 0303 health sciences, Gene Expression Profiling, Cell Differentiation, Cell Biology, Hematology, Flow Cytometry, Hematopoiesis, Gene expression profiling, Haematopoiesis, Immunoglobulin superfamily, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c189d5e27c440505e111c4cae029f4a1Test
https://doi.org/10.1182Test/blood-2008-06-162958

المؤلفون: Hannah Wardle-Jones, Cedric Ghevaert, Cavan Bennett, Anneliese O. Speak, Emma L. Cambridge, Wendy N. Erber, Jeanne Estabel, Zoe McIntyre, Louise van der Weyden, Augusto Rendon, Jose A. Guerrero, Paquita Nurden, Harriet McKinney, Willem H. Ouwehand, Melody Chin

المصدر: Blood. 124(24)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Immunology, Biology, Gray Platelet Syndrome, Biochemistry, Gray platelet syndrome, Metastasis, Proinflammatory cytokine, Mice, Neoplasms, medicine, Animals, Humans, Neoplasm Metastasis, Myelofibrosis, Mice, Knockout, Secretory Vesicles, Granule (cell biology), Cell Biology, Hematology, Blood Proteins, medicine.disease, Disease Models, Animal, Primary Myelofibrosis, Mutation, Cancer research, Megakaryocytes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef3d76db1bff49d2d67e24469e5352fTest
https://pubmed.ncbi.nlm.nih.gov/25258341Test

المؤلفون: Gomez Gomez, Eliezer Tomas Tomas, Gomez Almaguer, David, Gutierrez-Aguirre, Cesar Homero, Colunga-Pedraza, Perla R.R., Tarin-Arzaga, Luz, Jaime, Jose Carlos, Coronado, Edgar Ulises, De La Garza, Fernando, Guadarrama Rendon, Estefania, Calzada Davila, Santiago

المصدر: Blood; November 2022, Vol. 140 Issue: Supplement 1 p7710-7711, 2p

المؤلفون: Holger Prokisch, Angela Döring, Nilesh J. Samani, Christa Meisinger, Simon C. Potter, Jeanette Erdmann, Wendy N. Erber, Angela Rankin, Nicole Soranzo, Jennifer Jolley, John Bradley, Swee Lay Thein, Stephen F. Garner, Willem H. Ouwehand, Panos Deloukas, Stephan Menzel, Heribert Schunkert, Mario Falchi, Nicholas A. Watkins, Christian Gieger, Augusto Rendon, Philippa Burns, Alison H. Goodall, Jonathan Stephens, Chris I. Jones, Tim D. Spector, Brigitte Kühnel, Sarah L. Bray, Thomas Illig

المصدر: Blood. 113(16)

مصطلحات موضوعية: Adult, Blood Platelets, Male, Immunology, Quantitative Trait Loci, Locus (genetics), Genome-wide association study, Biology, Biochemistry, Polymorphism, Single Nucleotide, Article, Thrombopoiesis, Cohort Studies, Chromosome regions, medicine, Humans, Platelet, Mean platelet volume, Allele, Aged, Chromosome 7 (human), Thrombocytosis, Genome, Human, Platelet Count, Chromosome Mapping, Cell Biology, Hematology, Middle Aged, medicine.disease, Molecular biology, Gene Expression Regulation, Hematologic Neoplasms, Female, Chromosomes, Human, Pair 7, Thrombocythemia, Essential

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3683b84e398e77ac94daa737d7beff1Test
https://pubmed.ncbi.nlm.nih.gov/19221038Test

المؤلفون: Yupu Liang, Andrea Negri, Claudia Lorena Buitrago, Augusto Rendon, Ilenia Simeoni, Marta Filizola, Ernest Turro, Barry S. Coller, Willem H. Ouwehand

المصدر: Blood. 124:4151-4151

مصطلحات موضوعية: Genetics, education.field_of_study, Immunology, Population, Fibrinogen binding, Genomics, Cell Biology, Hematology, Biology, Biochemistry, Minor allele frequency, Missense mutation, 1000 Genomes Project, education, Exome, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e125f5a81a330c5c087572968c9fe3d6Test
https://doi.org/10.1182Test/blood.v124.21.4151.4151

المؤلفون: Kovilakam, Sruthi Cheloor, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M.A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Zainal, Serena Nik, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

المصدر: Blood; 20230101, Issue: Preprints

المؤلفون: Willem H. Ouwehand, Bertie Gottgens, Sarah Teichmann, Frank Dudbridge, C. Ellen Van der Schoot, Daphne Thijssen-Timmer, Catherine Rice, Augusto Rendon, Stephen F Garner, Nicola Foad, Wendy N. Erber, Cordelia Langford, Anthony Attwood, Will Angenent, Diego Miranda-Saavedra, Subhajyoti De, Bernard de Bono, Arief Gusnanto, Marloes R. Tijssen, Nicholas A. Watkins

المصدر: Blood. 112:2453-2453

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::060610a01602e03323fbeaece0451270Test
https://doi.org/10.1182Test/blood.v112.11.2453.2453

المؤلفون: Holger Prokisch, Panos Deloukas, Stephan Menzel, Nicole Soranzo, H-Erich Wichmann, Jennifer Jolley, Augusto Rendon, Christian Gieger, Philippa Burns, Angela Doering, Jonathan Stephens, Christine Meisinger, Angela Rankin, Chris I. Jones, Simon C. Potter, Mario Falchi, Nicholas A. Watkins, Alison H. Goodall, Stephen F. Garner, Marloes R. Tijssen, Wendy N. Erber, Swee Lay Thein, Tim D. Spector, Willem H. Ouwehand, Thomas Illig

المصدر: Blood. 112:86-86

مصطلحات موضوعية: Genetics, Immunology, Locus (genetics), Single-nucleotide polymorphism, Cell Biology, Hematology, Biology, Biochemistry, Minor allele frequency, SNP, Platelet, Allele, Mean platelet volume, Genetic association

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a02d52146196a8336eb21baf87da2247Test
https://doi.org/10.1182Test/blood.v112.11.86.86