المؤلفون: Paul A. Brogan, Ebun Omoyinmi, Dorota Rowczenio, Taryn Youngstein, Anna Baginska, Helen J. Lachmann, Philip N. Hawkins, H Trojer, Tamer Rezk, Charalampia Papadopoulou

المصدر: Rheumatology.

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Arthritis, Rheumatology, AA amyloidosis, medicine, Humans, Pharmacology (medical), Allele, Index case, Genetic testing, Proteinuria, medicine.diagnostic_test, business.industry, Amyloidosis, Middle Aged, Pyrin, medicine.disease, MEFV, Dermatology, Tubulin Modulators, Familial Mediterranean Fever, Pedigree, Transplantation, Treatment Outcome, Female, medicine.symptom, Colchicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff687c9036e35e5d34ffbf922cbae8aTest
https://doi.org/10.1093/rheumatology/kez334Test

المؤلفون: Ebun Omoyinmi, Helen J. Lachmann, Dorota Rowczenio, Sinisa Savic, H Trojer, Philip N. Hawkins, T. Scambler, Juan I. Aróstegui, Anna Baginska, Julian D. Gillmore, Anna Mensa-Vilaro, Paul A. Brogan, Shelly Pathak, Ashutosh D. Wechalekar, Rene Williams, Roger G. Owen, Taryn Youngstein, Dan Lipsker, Thirusha Lane

المصدر: Blood. 131:974-981

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Somatic cell, Immunology, Nod2 Signaling Adaptor Protein, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, NOD2, NLR Family, Pyrin Domain-Containing 3 Protein, Genetic predisposition, medicine, Humans, Schnitzler Syndrome, Bone pain, Germ-Line Mutation, Aged, 030203 arthritis & rheumatology, Anakinra, biology, Interleukin-6, business.industry, Calcium-Binding Proteins, Interleukin-18, Cell Biology, Hematology, Middle Aged, medicine.disease, CARD Signaling Adaptor Proteins, Interleukin 1 Receptor Antagonist Protein, 030104 developmental biology, Schnitzler syndrome, Amino Acid Substitution, Receptors, Tumor Necrosis Factor, Type I, Immunoglobulin M, biology.protein, Female, medicine.symptom, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26de8764bdfcde724c2141ec259db25aTest
https://doi.org/10.1182/blood-2017-10-810366Test

المؤلفون: Dorota Rowczenio, Helen J. Lachmann, Islam Noor, Philip N. Hawkins, Julian D. Gillmore, H Trojer, Janet A. Gilbertson, Ashutosh D. Wechalekar

المصدر: Other orphan diseases.

مصطلحات موضوعية: Pituitary growth hormone, medicine.medical_specialty, Endocrinology, AA amyloidosis, business.industry, Internal medicine, Potential effect, Medicine, business, Cadaveric spasm, medicine.disease, Amyloid enhancing factor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1152a923b649493f4f10ef6a8594f5f0Test
https://doi.org/10.1136/annrheumdis-2019-eular.2653Test

المؤلفون: Marianna Fontana, Shameem Mahmood, Candida Cristina Quarta, Faye Sharpley, Philip N. Hawkins, Ana Martinez-Naharro, Sajitha Sachchithanantham, H Trojer, Ashutosh D. Wechalekar, Anna Baginska, Janet A. Gilbertson, Dorota Rowczenio, Stuart M. Ferguson, Helen J. Lachmann, Richa Manwani, Carol J. Whelan, Julian D. Gillmore, Tamer Rezk

المصدر: Human mutation. 40(1)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Amyloid, Cardiomyopathy, Kaplan-Meier Estimate, 03 medical and health sciences, Young Adult, Internal medicine, Genetics, medicine, Humans, Prealbumin, Genetics (clinical), 030304 developmental biology, Genetic testing, Aged, Aged, 80 and over, 0303 health sciences, biology, medicine.diagnostic_test, Amyloidosis, 030305 genetics & heredity, Restrictive cardiomyopathy, Middle Aged, medicine.disease, United Kingdom, Transthyretin, Mutation, biology.protein, Organ involvement, Female, Median survival

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edb105a63beef4354bb47a1a3350b64bTest
https://pubmed.ncbi.nlm.nih.gov/30328212Test

المؤلفون: Ebun Omoyinmi, Guosu Wang, Paul A. Brogan, Juan I. Aróstegui, Dorota Rowczenio, Anna Baginska, H Trojer, Anna Mensa-Vilaro, Grigor Arakelov, Philip N. Hawkins, Caroline Silva Pilorz, Helen J. Lachmann, Thirusha Lane

المصدر: Arthritis & Rheumatology. 68:2044-2049

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, Genetics, Sanger sequencing, Mutation, Somatic cell, In silico, Immunology, Amplicon, Biology, medicine.disease_cause, Molecular biology, Deep sequencing, law.invention, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Rheumatology, law, medicine, symbols, Immunology and Allergy, Polymerase chain reaction, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2cbd22b53efb15c314a9b7ef0dcd3132Test
https://doi.org/10.1002/art.39683Test

المؤلفون: Daniela Iancu, Thirusha Lane, Mehmet Tekman, Janet A. Gilbertson, Helen J. Lachmann, Robert Kleta, Horia Stanescu, Ashutosh D. Wechalekar, Julian D. Gillmore, Philip N. Hawkins, H Trojer, Dorota Rowczenio

المصدر: Rheumatology. 56:209-213

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Nephrotic Syndrome, Adolescent, Population, Familial Mediterranean fever, White People, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, AA amyloidosis, Internal medicine, Humans, Medicine, Pharmacology (medical), Allele, Child, education, Aged, 030203 arthritis & rheumatology, Genetics, Serum Amyloid A Protein, education.field_of_study, business.industry, Amyloidosis, Haplotype, Middle Aged, Pyrin, MEFV, medicine.disease, Immunohistochemistry, Tubulin Modulators, United Kingdom, Familial Mediterranean Fever, 030104 developmental biology, Haplotypes, Mutation, Female, Age of onset, Colchicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f7ec7ed9714dcb4d56854e147624b0Test
https://doi.org/10.1093/rheumatology/kew058Test

المؤلفون: Nidhi Sofat, Taryn Youngstein, H Trojer, Helen J. Lachmann, Mickey Koh, Jose Ros Soto, Dorota Rowczenio

مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, Necrosis, business.industry, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Rheumatology, Periodic syndrome, Refractory, Internal medicine, Transfusion dependence, Medicine, Pharmacology (medical), medicine.symptom, business, Receptor

وصف الملف: application/x-zip

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4f8b81d9f0b07b5c12dcb098182912bTest
https://openaccess.sgul.ac.uk/id/eprint/109388/1/Youngstein_et_al_2017.docxTest

المؤلفون: S. Karrar, X. Shiwen, J. Nikotorowicz-Buniak, D. J. Abraham, C. Denton, R. Stratton, R. Bayley, K. A. Kite, E. Clay, J. P. Smith, G. D. Kitas, C. Buckley, S. P. Young, L. Ye, L. Zhang, J. Goodall, H. Gaston, H. Xu, P. M. Lutalo, Y. Zhao, L. Meng Choong, S. Sangle, J. Spencer, D. D'Cruz, O. J. Rysnik, K. McHugh, P. Bowness, L. Rump-Goodrich, D. Mattey, O. Kehoe, J. Middleton, A. Cartwright, C. Schmutz, A. Askari, D. H. Gardner, L. E. Jeffery, K. Raza, D. M. Sansom, M. Fitzpatrick, G. Wallace, S. Young, J. Shaw, H. Hatano, A. Cauli, J. L. Giles, A. Mathieu, S. Kollnberger, S. Webster, L. Ellis, L. M. O'Brien, T. J. Fitzmaurice, A. Nazeer Moideen, L. Evans, L. Osgood, A. Williams, S. Jones, C. Thomas, V. O'Donnell, M. Nowell, L. Ouboussad, S. Savic, L. J. Dickie, J. Hintze, C. H. Wong, G. P. Cook, M. Buch, P. Emery, M. F. McDermott, S. A. Hardcastle, C. L. Gregson, K. Deere, G. Davey Smith, P. Dieppe, J. H. Tobias, E. Dennison, M. Edwards, J. Bennett, D. Coggon, K. Palmer, C. Cooper, D. McWilliams, A. Young, P. D. Kiely, D. Walsh, H. J. Taylor, I. Harding, J. Hutchinson, I. Nelson, A. Blom, J. Tobias, E. Clark, J. Parker, M. Bukhari, K. Jayakumar, P. Kiely, J. Diffin, M. Lunt, T. Marshall, J. Chipping, D. Symmons, S. Verstappen, J. Bluett, J. Bowes, P. Ho, N. McHugh, D. Buden, O. Fitzgerald, A. Barton, J. R. Glossop, N. B. Nixon, R. D. Emes, P. T. Dawes, W. E. Farrell, D. L. Mattey, I. C. Scott, S. Steer, S. Seegobin, A. M. Hinks, S. Eyre, A. Morgan, A. G. Wilson, L. Hocking, P. Wordsworth, J. Worthington, A. Cope, C. M. Lewis, S. Guerra, B. A. Ahmed, D. Abraham, C. Fonseca, J. Robinson, J. Taylor, L. Haroon Rashid, E. Flynn, J. Isaacs, J. H. Barrett, B. Kingston, M. Ahmed, J. R. Kirwan, R. Marshall, K. Chapman, R. Pearson, C. Heycock, C. Kelly, M. Rynne, V. Saravanan, J. Hamilton, A. Saeed, R. Coughlan, J. J. Carey, Z. Farah, W. Matthews, C. Bell, S. Petford, L.-M. Tibbetts, K. M. J. Douglas, W. Holden, J. Ledingham, M. Fletcher, R. Winfield, Z. Price, K. Mackay, C. Dixon, R. Oppong, S. Jowett, E. Nicholls, D. Whitehurst, S. Hill, A. Hammond, E. Hay, K. Dziedzic, C. Righetti, M. Lebmeier, V. L. Manning, M. Hurley, D. L. Scott, E. Choy, L. Bearne, E. Nikiphorou, S. Morris, D. James, E. C. Wong, J. Long, A. Fletcher, S. Holmes, P. Hockey, M. Abbas, C. Chattopadhyay, J. Flint, M. Gayed, K. Schreiber, S. Arthanari, M. Nisar, M. Khamashta, C. Gordon, I. Giles, J. Robson, A. Kiran, J. Maskell, N. Arden, A. Hutchings, A. Emin, D. Culliford, B. Dasgupta, W. Hamilton, R. Luqmani, H. Jethwa, D. Rowczenio, H. Trojer, T. Russell, J. Loeffler, P. Hawkins, H. Lachmann, I. Verma, A. Syngle, P. Krishan, N. Garg, S. P. McGowan, D. T. Gerrard, H. Chinoy, W. E. Ollier, R. G. Cooper, J. A. Lamb, L. Taborda, P. Correia Azevedo, D. Isenberg, K. M. Leyland, A. Judge, D. Hunter, D. Hart, M. K. Javaid, M. H. Edwards, A. E. Litwic, K. A. Jameson, D. Deeg, J. Cushnaghan, A. Aihie Sayer, D. Jagannath, C. Parsons, L. Stoppiello, P. Mapp, S. Ashraf, D. Wilson, R. Hill, B. Scammell, C. Wenham, P. Shore, R. Hodgson, A. Grainger, J. Aaron, L. Hordon, P. Conaghan, Y. Bar-Ziv, Y. Beer, Y. Ran, S. Benedict, N. Halperin, M. Drexler, A. Mor, G. Segal, A. Lahad, A. Haim, U. Rath, D. M. Morgensteren, M. Salai, A. Elbaz, V. G. Vasishta, E. Derrett-Smith, R. Hoyles, K. Khan, A. Ezeonyeji, G. Takhar, V. Ong, L. Loughrey, L.-A. Bissell, E. Hensor, G. Abignano, A. Redmond, F. Del Galdo, F. C. Hall, A. Malaviya, S. Baker, A. Furlong, A. Mitchell, A. L. Godfrey, M. Ruddlesden, A. Hadjinicolaou, M. Hughes, T. Moore, N. O'Leary, A. Tracey, H. Ennis, G. Dinsdale, C. Roberts, A. Herrick, C. P. Denton, L. Guillevin, E. Hunsche, D. Rosenberg, B. Schwierin, M. Scott, T. Krieg, M. Anderson, M. Matucci-Cerinic, R. Alade, S. Xu, S. Nihtyanova, K. E. Clark, F. W. K. Tam, R. Unwin, R. J. Stratton, B. Schreiber, C. Seng Edwin Lim, E. Corsiero, N. Sutcliffe, H. Wardemann, C. Pitzalis, M. Bombardieri, H. Tahir, S. Donnelly, M. Greenwood, T. O. Smith, V. Easton, H. Bacon, E. Jerman, K. Armon, F. Poland, A. Macgregor, D. van der Heijde, J. Sieper, D. Elewaut, A. L. Pangan, D. Nguyen, C. Badenhorst, S. Kirby, D. White, A. Harrison, J. A. Garcia, S. Stebbings, J. W. MacKay, S. Aboelmagd, K. Gaffney, A. Deodhar, J. Braun, M. Mack, B. Hsu, T. Gathany, C. Han, R. D. Inman, N. Cooper-Moss, J. Packham, V. Strauss, J. E. Freeston, L. Coates, J. Nam, A. R. Moverley, P. Helliwell, R. Wakefield, P. Mease, R. Fleischmann, J. Wollenhaupt, D. Kielar, F. Woltering, C. Stach, B. Hoepken, T. Arledge, D. Gladman, G. Coteur, A. Kavanaugh, O. Purcaru, I. McInnes, A. B. Gottlieb, L. Puig, P. Rahman, C. Ritchlin, S. Li, Y. Wang, A. Mendelsohn, M. Doyle, W. Tillett, D. Jadon, G. Shaddick, C. Cavill, G. Robinson, R. Sengupta, E. Korendowych, C. de Vries, R. C. Thomas, T. Shuto, N. Busquets-Perez, H. Marzo-Ortega, D. McGonagle, G. Richards, S. Bingham, P. John Hamlin, R. Adshead, S. Cambridge, P. Suppiah, M. Cullinan, A. Nolan, W. M. Thompson, H. R. Mathieson, S. L. Mackie, D. Bryer, M. Krutikov, L. Gray, E. Bruce, A. Keat, W. Innes, R. Pandit, L. Kay, S. Lapshina, L. Myasoutova, S. Erdes, D. Wallis, N. Waldron, I. Thorne, C. Harris, K. Vohra, D. Khinchi, L. Kaur, A. Jones, N. Harrison, D. Harris, T. Jones, J. Rees, A. Bennett, S. Fazal, N. Tugnet, N. Barkham, N. Basu, A. McClean, L. Harper, E. N. Amft, N. Dhaun, R. A. Luqmani, M. A. Little, D. R. Jayne, O. Flossmann, J. McLaren, V. Kumar, D. M. Reid, G. J. Macfarlane, G. Jones, M. Yates, R. A. Watts, L. Igali, C. Mukhtyar, H. Doll, S. Yew, R. Suppiah, P. Hoglund, D. Jayne, K. Westman, W. Win Maw, P. Patil, M. Williams, T. Adizie, D. Christidis, F. Borg, A. Robertson, A. P. Croft, S. Smith, S. Carr, S. Youssouf, A. Salama, C. Pusey, M. Morgan

المصدر: Rheumatology. 52:i135-i172

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Stem cell factor, Systemic scleroderma, medicine.disease, In vitro, Rheumatology, medicine.anatomical_structure, Internal medicine, Immunology, medicine, Pharmacology (medical), Fibroblast, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4274168dcb6af09e716060f4a62004f8Test
https://doi.org/10.1093/rheumatology/ket195Test

المؤلفون: Dorota Rowczenio, Rene Williams, H Trojer, Thirusha Lane, Philip N. Hawkins, Helen J. Lachmann, Taryn Youngstein, Kate David

المصدر: Rheumatology.

مصطلحات موضوعية: Service (business), medicine.medical_specialty, Pediatrics, business.industry, Amyloidosis, Familial Mediterranean fever, medicine.disease, Rheumatology, Patient referral, Internal medicine, Periodic fever, medicine, Physical therapy, Retrospective analysis, Autoinflammatory disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::72fa0646b8086e5cf7e04b959ebb95a7Test
https://doi.org/10.1093/rheumatology/kew176.002Test

المؤلفون: Paul A. Brogan, Ruth J. Pepper, Philip N. Hawkins, Taryn Youngstein, H Trojer, Helen J. Lachmann, Thirusha Lane, Rene Williams, Dorota Rowczenio

المصدر: Pediatric Rheumatology Online Journal

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Inflammasome, Disease, Bioinformatics, Complete resolution, Rheumatology, Disease activity, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Oral Presentation, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d13813fddfae9c84badbb44090c5ccTest
https://doi.org/10.1186/1546-0096-13-s1-o65Test