المؤلفون: Huusko, P, Ponciano-Jackson, D, Wolf, Maija, Kiefer, J A, Azorsa, D O, Tuzmen, S, Weaver, D, Robbins, C, Moses, T, Allinen, M, Hautaniemi, S, Chen, Y D, Elkahloun, A, Basik, M, Bova, G S, Bubendorf, L, Lugli, A, Sauter, G, Schleutker, J, Ozcelik, H, Elowe, S, Pawson, T, Trent, J M, Carpten, J D, Kallioniemi, O P, Mousses, S

المساهمون: Clinicum, Institute for Molecular Medicine Finland, Research Programs Unit, Genome-Scale Biology (GSB) Research Program, Research Programs (Faculty of Medicine) (-2009), Faculty of Medicine, Sampsa Hautaniemi / Principal Investigator, Department of Biochemistry and Developmental Biology, Kliinisen kemian yksikkö (-2009), Olli-Pekka Kallioniemi / Principal Investigator, Bioinformatics

مصطلحات موضوعية: GENE-EXPRESSION PATTERNS, BREAST-CANCER, COPY-NUMBER, RECEPTORS, EPHRIN-B2

وصف الملف: application/pdf

العلاقة: Huusko , P , Ponciano-Jackson , D , Wolf , M , Kiefer , J A , Azorsa , D O , Tuzmen , S , Weaver , D , Robbins , C , Moses , T , Allinen , M , Hautaniemi , S , Chen , Y D , Elkahloun , A , Basik , M , Bova , G S , Bubendorf , L , Lugli , A , Sauter , G , Schleutker , J , Ozcelik , H , Elowe , S , Pawson , T , Trent , J M , Carpten , J D , Kallioniemi , O P & Mousses , S 2004 , ' Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer ' , Nature Genetics , vol. 36 , pp. 979-983 . https://doi.org/10.1038/ng1408Test; ORCID: /0000-0002-7749-2694/work/29942576; 2ebf69b5-b0e2-4912-bb79-a843dbda3792; http://hdl.handle.net/10138/24763Test; 000223658100024

الإتاحة: http://hdl.handle.net/10138/24763Test

المؤلفون: Duggan, D., Zheng, S. L., Knowlton, M., Benitez, D., Dimitrov, L., Wiklund, F., Robbins, C., Isaacs, S. D., Cheng, Y., Li, G., Sun, J., Chang, B.-L., Marovich, L., Wiley, K. E., Balter, K., Stattin, P., Adami, H.-O., Gielzak, M., Yan, G., Sauvageot, J., Liu, W., Kim, J. W., Bleecker, E. R., Meyers, D. A., Trock, B. J., Partin, A. W., Walsh, P. C., Isaacs, W. B., Gronberg, H., Xu, J., Carpten, J. D.

المصدر: JNCI Journal of the National Cancer Institute ; volume 99, issue 24, page 1836-1844 ; ISSN 0027-8874 1460-2105

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1093/jnci/djm250Test
http://academic.oup.com/jnci/article-pdf/99/24/1836/18614970/djm250.pdfTest

المؤلفون: Villablanca, A, Calender, A, Forsberg, L, Höög, A, Cheng, J-D, Petillo, D, Bauters, C, Kahnoski, K, Ebeling, T, Salmela, P, Richardson, A-L, Delbridge, L, Meyrier, A, Proye, C, Carpten, J D, Teh, B T, Robinson, B G, Larsson, C

مصطلحات موضوعية: Online mutation reports

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/41/3/e32Test; http://dx.doi.org/10.1136/jmg.2003.012369Test

الإتاحة: https://doi.org/10.1136/jmg.2003.012369Test
http://jmg.bmj.com/cgi/content/short/41/3/e32Test

المؤلفون: BRADLEY, K. J., HOBBS, M. R., BULEY, I. D., CARPTEN, J. D., CAVACO, B. M., FARES, J. E., LAIDLER, P., MANEK, S., ROBBINS, C. M., SALTI, I. S., THOMPSON, N. W., JACKSON, C. E., THAKKER, R. V.

المصدر: Journal of Internal Medicine ; volume 257, issue 1, page 18-26 ; ISSN 0954-6820 1365-2796

الإتاحة: https://doi.org/10.1111Test/j.1365-2796.2004.01421.x

المؤلفون: Ghosh, S, Karanjawala, Z E, Hauser, E R, Ally, D, Knapp, J I, Rayman, J B, Musick, A, Tannenbaum, J, Te, C, Shapiro, S, Eldridge, W, Musick, T, Martin, C, Smith, J R, Carpten, J D, Brownstein, M J, Powell, J I, Whiten, R, Chines, P, Nylund, S J, Magnuson, V L, Boehnke, M, Collins, F S

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://genome.cshlp.org/cgi/content/short/7/2/165Test; http://dx.doi.org/10.1101/gr.7.2.165Test

الإتاحة: https://doi.org/10.1101/gr.7.2.165Test
http://genome.cshlp.org/cgi/content/short/7/2/165Test

المؤلفون: Smith, J. R., Freije, D., Carpten, J. D., Gronberg, H., Xu, J., Isaacs, S. D., Brownstein, M. J., Bova, G. S., Guo, H., Bujnovszky, P., Nusskern, D. R., Damber, J.-E., Bergh, A., Emanuelsson, M., Kallioniemi, O. P., Walker-Daniels, J., Bailey-Wilson, J. E., Beaty, T. H., Meyers, D. A., Walsh, P. C., Collins, F. S., Trent, J. M., Isaacs, W. B.

العلاقة: https://zenodo.org/record/1231086Test; https://doi.org/10.1126/science.274.5291.1371Test; oai:zenodo.org:1231086

الإتاحة: https://doi.org/10.1126/science.274.5291.1371Test
https://zenodo.org/record/1231086Test

المؤلفون: Smith, J R, Carpten, J D, Brownstein, M J, Ghosh, S, Magnuson, V L, Gilbert, D A, Trent, J M, Collins, F S

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://genome.cshlp.org/cgi/content/short/5/3/312Test; http://dx.doi.org/10.1101/gr.5.3.312Test

الإتاحة: https://doi.org/10.1101/gr.5.3.312Test
http://genome.cshlp.org/cgi/content/short/5/3/312Test

المؤلفون: Jones, P. A., Archer, T. K., Baylin, S. B., Beck, S., Berger, S., Bernstein, B. E., Carpten, J. D., Clark, S. J., Costello, J. F., Doerge, R. W., Esteller, M., Feinberg, A. P., Gingeras, T. R., Greally, J. M., Henikoff, S., Herman, J. G., Jackson-Grusby, L., Jenuwein, T., Jirtle, R. L., Kim, Y. J., Laird, P. W., Lim, B., Martienssen, R., Polyak, K., Stunnenberg, H.G., Tlsty, T. D., Tycko, B., Ushijima, T., Zhu, J. D., Pirrotta, V., Allis, C. D., Elgin, S. C., Rine, J., Wu, C.

المصدر: Nature, 454, 7205, pp. 711-715

مصطلحات موضوعية: Molecular Biology

العلاقة: http://hdl.handle.net/2066/72752Test

الإتاحة: https://doi.org/10.1038/454711aTest
http://hdl.handle.net/2066/72752Test

المؤلفون: Bradley, K. J., Hobbs, M. R., Buley, I. D., Carpten, J. D., Cavaco, B. M., Fares, J. E., Laidler, P., Manek, S., Robbins, C. M., Salti, I. S., Thompson, N. W., Jackson, C. E., Thakker, R. V.

المساهمون: Department of Surgery, University of Michigan, School of Medicine, Ann Arbor, MI, USA, Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK, Division of Endocrinology, Metabolism, and Diabetes, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA, Department of Cellular Pathology, John Radcliffe Hospital, Oxford, UK, Translational Genomics Research Institute, Tempe, AZ, USA, Centro de Investiga o de Patobiologia Molecular, Instituto Portugu s de Oncologia de Francisco Gentil, Rua Professor Lima Basto, Lisboa, Portugal, Division of Endocrinology and Metabolism, Department of Internal Medicine, American University Hospital, Beirut, Lebanon, Department of Pathology, University of Wales College of Medicine, Cardiff, UK, Department of Medicine, Scott and White Memorial Hospital, Temple, TX, USA

مصطلحات موضوعية: Bone Tumours, HRPT2 Mutations, Kidney Cysts, Parathyroid Cancer, Internal Medicine and Specialties, Health Sciences

وصف الملف: 176296 bytes; 3109 bytes; application/pdf; text/plain

العلاقة: BRADLEY, K. J.; HOBBS, M. R.; BULEY, I. D.; CARPTEN, J. D.; CAVACO, B. M.; FARES, J. E.; LAIDLER, P.; MANEK, S.; ROBBINS, C. M.; SALTI, I. S.; THOMPSON, N. W.; JACKSON, C. E.; THAKKER, R. V. (2005). "Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome." Journal of Internal Medicine 257(1): 18-26.; https://hdl.handle.net/2027.42/74672Test; http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15606373&dopt=citationTest; Journal of Internal Medicine; Jackson CE, Norum RA, Boyd SB et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 1990; 108: 1006 12; discussion 1012 3.; Szabo J, Heath B, Hill VM et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21 q31. Am J Hum Genet 1995; 56: 944 50.; Teh BT, Farnebo F, Kristoffersson U et al. Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21 q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 1996; 81: 4204 11.; Teh BT, Farnebo F, Twigg S et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21 q32 in a subset of families. J Clin Endocrinol Metab 1998; 83: 2114 20.; Cavaco BM, Barros L, Pannett AA et al. The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 2001; 94: 213 22.; Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000; 343: 1863 75.; Marx SJ, Simonds WF, Agarwal SK et al. Hyperparathyroidism in hereditary syndromes: special expressions and special managements. J Bone Miner Res 2002; 17 ( Suppl. 2 ): N37 43.; Hobbs MR, Pole AR, Pidwirny GN et al. Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Am J Hum Genet 1999; 64: 518 25.; Haven CJ, Wong FK, van Dam EW et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2000; 85: 1449 54.; Williamson C, Cavaco BM, Jauch A et al. Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22 q31. J Bone Miner Res 1999; 14: 230 9.; Simonds WF, James-Newton LA, Agarwal SK et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 2002; 81: 1 26.; Wassif WS, Moniz CF, Friedman E et al. Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab 1993; 77: 1485 9.; Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2004; 89: 96 102.; Warner J, Epstein M, Sweet A et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004; 41: 155 60.; Carpten JD, Robbins CM, Villablanca A et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002; 32: 676 80.; Howell VM, Haven CJ, Kahnoski K et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 2003; 40: 657 63.; Shattuck TM, Valimaki S, Obara T et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003; 349: 1722 9.; Cavaco BM, Guerra L, Bradley KJ et al. Hyperparathyroidism (HPT)-jaw tumour syndrome in Roma families from Portugal is due to a founder mutation in the HRPT2 gene. J Clin Endocrinol Metab 2004; 89: 1747 52.; Suh JY, Lee YT, Park CB, Lee KH, Kim SC, Choi BS. Structural and functional implications of a proline residue in the antimicrobial peptide gaegurin. Eur J Biochem 1999; 266: 665 74.; Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971; 68: 820 3.; Frayha RA, Nassar VH, Dagher F, Salti IS. Familial parathyroid carcinoma. J Med Liban 1972; 25: 299 309.; Allo M, Thompson NW. Familial hyperparathyroidism caused by solitary adenomas. Surgery 1982; 92: 486 90.; Jackson CE, Talbert PC, Caylor HD. Hereditary hyperparathyroidism. Indiana State Med Assoc 1960; 53: 1313 6.; Jackson CE. Hereditary hyperparathyroidism associated with recurrent pancreatitis. Ann Intern Med 1958; 49: 829 36.; Mallette LE, Malini S, Rappaport MP, Kirkland JL. Familial cystic parathyroid adenomatosis. Ann Intern Med 1987; 107: 54 60.; Law WM Jr, Hodgson SF, Heath H III. Autosomal recessive inheritance of familial hyperparathyroidism. N Engl J Med 1983; 309: 650 3.; Firat D, Stutzman L. Fibrous dysplasia of the bone. Review of twenty-four cases. Am J Med 1968; 44: 421 9.; Pannett AA, Kennedy AM, Turner JJ et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 2003; 58: 639 46.; Fujikawa M, Okamura K, Sato K et al. Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. Eur J Endocrinol 1998; 138: 557 61.

الإتاحة: https://doi.org/10.1111Test/j.1365-2796.2004.01421.x
https://hdl.handle.net/2027.42/74672Test
http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15606373&dopt=citationTest

المؤلفون: Chen, J. D., Morrison, C., Zhang, C., Kahnoski, K., Carpten, J. D., Teh, B. T.

المصدر: Journal of Internal Medicine ; volume 253, issue 6, page 634-642 ; ISSN 0954-6820 1365-2796

الإتاحة: https://doi.org/10.1046Test/j.1365-2796.2003.01168.x