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Rare Diseases

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Biological context of Rare Diseases


Anatomical context of Rare Diseases


Gene context of Rare Diseases


Analytical, diagnostic and therapeutic context of Rare Diseases


  1. Triplet repeat mutations in human disease. Caskey, C.T., Pizzuti, A., Fu, Y.H., Fenwick, R.G., Nelson, D.L. Science (1992) [Pubmed]
  2. Identification of an immunologically distinct papillomavirus from lesions of epidermodysplasia verruciformis. Pass, F., Reissig, M., Shah, K.V., Eisinger, M., Orth, G. J. Natl. Cancer Inst. (1977) [Pubmed]
  3. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Bichet, D.G., Birnbaumer, M., Lonergan, M., Arthus, M.F., Rosenthal, W., Goodyer, P., Nivet, H., Benoit, S., Giampietro, P., Simonetti, S. Am. J. Hum. Genet. (1994) [Pubmed]
  4. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Suzuki, O.T., Sertié, A.L., Der Kaloustian, V.M., Kok, F., Carpenter, M., Murray, J., Czeizel, A.E., Kliemann, S.E., Rosemberg, S., Monteiro, M., Olsen, B.R., Passos-Bueno, M.R. Am. J. Hum. Genet. (2002) [Pubmed]
  5. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Krafchak, C.M., Pawar, H., Moroi, S.E., Sugar, A., Lichter, P.R., Mackey, D.A., Mian, S., Nairus, T., Elner, V., Schteingart, M.T., Downs, C.A., Kijek, T.G., Johnson, J.M., Trager, E.H., Rozsa, F.W., Mandal, M.N., Epstein, M.P., Vollrath, D., Ayyagari, R., Boehnke, M., Richards, J.E. Am. J. Hum. Genet. (2005) [Pubmed]
  6. Anaesthetic management of a child with Marshall-Smith syndrome. Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G., Gillerot, Y. Canadian journal of anaesthesia = Journal canadien d'anesthésie. (1998) [Pubmed]
  7. The molecular genetic bases of the progressive myoclonus epilepsies. Serratosa, J.M., Gardiner, R.M., Lehesjoki, A.E., Pennacchio, L.A., Myers, R.M. Advances in neurology. (1999) [Pubmed]
  8. Immunology of reactive arthritides. Burmester, G.R., Daser, A., Kamradt, T., Krause, A., Mitchison, N.A., Sieper, J., Wolf, N. Annu. Rev. Immunol. (1995) [Pubmed]
  9. Acute promyelocytic leukemia. Warrell, R.P., de Thé, H., Wang, Z.Y., Degos, L. N. Engl. J. Med. (1993) [Pubmed]
  10. The nuclear envelope, muscular dystrophy and gene expression. Wilson, K.L. Trends Cell Biol. (2000) [Pubmed]
  11. Peripartum cardiomyopathy: National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of Health) workshop recommendations and review. Pearson, G.D., Veille, J.C., Rahimtoola, S., Hsia, J., Oakley, C.M., Hosenpud, J.D., Ansari, A., Baughman, K.L. JAMA (2000) [Pubmed]
  12. Clinical trials in hairy cell leukemia. Current status and future directions. Cheson, B.D., Martin, A. Ann. Intern. Med. (1987) [Pubmed]
  13. Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency. Lemarchandel, V., Joulin, V., Valentin, C., Rosa, R., Galactéros, F., Rosa, J., Cohen-Solal, M. Blood (1992) [Pubmed]
  14. Prevalence and etiology of altered liver tests: a population-based survey in a Mediterranean town. Pendino, G.M., Mariano, A., Surace, P., Caserta, C.A., Fiorillo, M.T., Amante, A., Bruno, S., Mangano, C., Polito, I., Amato, F., Cotichini, R., Stroffolini, T., Mele, A. Hepatology (2005) [Pubmed]
  15. Successful treatment of psoriatic onycho-pachydermo periostitis (POPP) with adalimumab. Bongartz, T., Härle, P., Friedrich, S., Karrer, S., Vogt, T., Seitz, A., Müller-Ladner, U. Arthritis Rheum. (2005) [Pubmed]
  16. Liver adenomatosis: reappraisal, diagnosis, and surgical management: eight new cases and review of the literature. Chiche, L., Dao, T., Salamé, E., Galais, M.P., Bouvard, N., Schmutz, G., Rousselot, P., Bioulac-Sage, P., Ségol, P., Gignoux, M. Ann. Surg. (2000) [Pubmed]
  17. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. Arthus, M.F., Lonergan, M., Crumley, M.J., Naumova, A.K., Morin, D., De Marco, L.A., Kaplan, B.S., Robertson, G.L., Sasaki, S., Morgan, K., Bichet, D.G., Fujiwara, T.M. J. Am. Soc. Nephrol. (2000) [Pubmed]
  18. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. Siggaard, C., Rittig, S., Corydon, T.J., Andreasen, P.H., Jensen, T.G., Andresen, B.S., Robertson, G.L., Gregersen, N., Bolund, L., Pedersen, E.B. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  19. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Maita, H., Kitaura, H., Keen, T.J., Inglehearn, C.F., Ariga, H., Iguchi-Ariga, S.M. Exp. Cell Res. (2004) [Pubmed]
  20. Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia. Metzke-Heidemann, S., Harder, L., Gesk, S., Schoch, R., Jenisch, S., Grote, W., Siebert, R., Schlegelberger, B. Genes Chromosomes Cancer (2001) [Pubmed]
  21. The impact of R53C mutation on the three-dimensional structure, stability, and DNA-binding properties of the human Hesx-1 homeodomain. de la Mata, I., Garcia, J.L., González, C., Menéndez, M., Cañada, J., Jiménez-Barbero, J., Asensio, J.L. Chembiochem (2002) [Pubmed]
  22. Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy. Lhotta, K., Gruber, J., Sgonc, R., Fend, F., König, P. Nephron (1998) [Pubmed]
  23. Peritonectomy and intraperitoneal hyperthermic perfusion (IPHP): a strategy that has confirmed its efficacy in patients with pseudomyxoma peritonei. Deraco, M., Baratti, D., Inglese, M.G., Allaria, B., Andreola, S., Gavazzi, C., Kusamura, S. Ann. Surg. Oncol. (2004) [Pubmed]
  24. T suppressor activated lymphocytes (CD8+/DR+) inhibit megakaryocyte progenitor cell differentiation in a case of acquired amegakaryocytic thrombocytopenic purpura. Benedetti, F., de Sabata, D., Perona, G. Stem Cells (1994) [Pubmed]
  25. Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered. Mannavola, D., Vannucchi, G., Fugazzola, L., Cerutti, N., Persani, L., Beck-Peccoz, P. J. Endocrinol. Invest. (2002) [Pubmed]
  26. Solid-pseudopapillary tumor of the pancreas: clinical experience and literature review. Huang, H.L., Shih, S.C., Chang, W.H., Wang, T.E., Chen, M.J., Chan, Y.J. World J. Gastroenterol. (2005) [Pubmed]
  27. Aneurysm of the abdominal aorta in an eighteen-month-old child. Defraigne, J.O., Paquot, J.P., Creemers, E., Limet, R. Annals of vascular surgery. (1988) [Pubmed]
  28. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Canfield, M.C., Tamarappoo, B.K., Moses, A.M., Verkman, A.S., Holtzman, E.J. Hum. Mol. Genet. (1997) [Pubmed]
  29. Sterol transporters: targets of natural sterols and new lipid lowering drugs. Sudhop, T., Lütjohann, D., von Bergmann, K. Pharmacol. Ther. (2005) [Pubmed]
  30. Lipoprotein(a) in health and disease. Kronenberg, F., Steinmetz, A., Kostner, G.M., Dieplinger, H. Critical reviews in clinical laboratory sciences. (1996) [Pubmed]
  31. Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5. Brakemeier, S., Si, H., Gollasch, M., Höffler, D., Buhl, M., Köhler, R., Hoyer, J., Eichler, I. Clin. Nephrol. (2004) [Pubmed]
  32. Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. Ballmaier, M., Germeshausen, M., Krukemeier, S., Welte, K. Ann. N. Y. Acad. Sci. (2003) [Pubmed]
  33. Autoimmune hepatitis. Obermayer-Straub, P., Strassburg, C.P., Manns, M.P. J. Hepatol. (2000) [Pubmed]
  34. Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Bontron, S., Steimle, V., Ucla, C., Eibl, M.M., Mach, B. Hum. Genet. (1997) [Pubmed]
  35. PCR analysis in archival postmortem tissues. Bonin, S., Petrera, F., Niccolini, B., Stanta, G. MP, Mol. Pathol. (2003) [Pubmed]
  36. Determination of extent and activity with radionuclide imaging in Erdheim-Chester disease. Franzius, C., Sciuk, J., Bremer, C., Kempkes, M., Schober, O. Clinical nuclear medicine. (1999) [Pubmed]
  37. Pulmonary alveolar proteinosis. Collard, B., Cool, M., Hertveldt, K., Claikens, B., Delanote, G. JBR-BTR : organe de la Société royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR). (2002) [Pubmed]
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