| | Other Issues: previous | next | latest | archiveCase Study Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia HJ Girschick, P Schneider, I Haubitz, O Hiort, H Collmann, M Beer, YS Shin, and HW Seyberth Orphanet J Rare Dis. 2006; 1: 24. Published online 2006 June 28. doi: 10.1186/1750-1172-1-24.PMCID: PMC1533806 Editorial Orphanet Journal of Rare Diseases: Launch Editorial Ségolène Aymé, Bruno Dallapiccola, and Dian Donnai Orphanet J Rare Dis. 2006; 1: 1. Published online 2006 March 1. doi: 10.1186/1750-1172-1-1.PMCID: PMC1435995 Research Mesothelioma mortality in Europe: impact of asbestos consumption and simian virus 40 Katharina Leithner, Andreas Leithner, Heimo Clar, Andreas Weinhaeusel, Roman Radl, Peter Krippl, Peter Rehak, Reinhard Windhager, Oskar A Haas, and Horst Olschewski Orphanet J Rare Dis. 2006; 1: 44. Published online 2006 November 7. doi: 10.1186/1750-1172-1-44.PMCID: PMC1664552 Reviews Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) Melanie Ehrlich, Kelly Jackson, and Corry Weemaes Orphanet J Rare Dis. 2006; 1: 2. Published online 2006 March 1. doi: 10.1186/1750-1172-1-2.PMCID: PMC1459120 Celiac disease Wolfgang Holtmeier and Wolfgang F Caspary Orphanet J Rare Dis. 2006; 1: 3. Published online 2006 March 1. doi: 10.1186/1750-1172-1-3.PMCID: PMC1435993 Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect Nikos Protonotarios and Adalena Tsatsopoulou Orphanet J Rare Dis. 2006; 1: 4. Published online 2006 March 13. doi: 10.1186/1750-1172-1-4.PMCID: PMC1435994 Otodental syndrome Agnès Bloch-Zupan and Jane R Goodman Orphanet J Rare Dis. 2006; 1: 5. Published online 2006 March 21. doi: 10.1186/1750-1172-1-5.PMCID: PMC1459122 Systemic lupus erythematosus Jessica J Manson and Anisur Rahman Orphanet J Rare Dis. 2006; 1: 6. Published online 2006 March 27. doi: 10.1186/1750-1172-1-6.PMCID: PMC1459118 Dopamine beta-hydroxylase deficiency Jean-Michel Senard and Philippe Rouet Orphanet J Rare Dis. 2006; 1: 7. Published online 2006 March 30. doi: 10.1186/1750-1172-1-7.PMCID: PMC1459119 Complete atrioventricular canal Raffaele Calabrò and Giuseppe Limongelli Orphanet J Rare Dis. 2006; 1: 8. Published online 2006 April 5. doi: 10.1186/1750-1172-1-8.PMCID: PMC1459121 Premature ovarian failure Paolo Beck-Peccoz and Luca Persani Orphanet J Rare Dis. 2006; 1: 9. Published online 2006 April 6. doi: 10.1186/1750-1172-1-9.PMCID: PMC1502130 Glanzmann thrombasthenia Alan T Nurden Orphanet J Rare Dis. 2006; 1: 10. Published online 2006 April 6. doi: 10.1186/1750-1172-1-10.PMCID: PMC1475837 Idiopathic chronic eosinophilic pneumonia Eric Marchand and Jean-François Cordier Orphanet J Rare Dis. 2006; 1: 11. Published online 2006 April 6. doi: 10.1186/1750-1172-1-11.PMCID: PMC1464381 Solitary median maxillary central incisor (SMMCI) syndrome Roger K Hall Orphanet J Rare Dis. 2006; 1: 12. Published online 2006 April 9. doi: 10.1186/1750-1172-1-12.PMCID: PMC1464380 Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome Dorothea Haas and Georg F Hoffmann Orphanet J Rare Dis. 2006; 1: 13. Published online 2006 April 26. doi: 10.1186/1750-1172-1-13.PMCID: PMC1475558 Thromboangiitis obliterans (Buerger's disease) Perttu ET Arkkila Orphanet J Rare Dis. 2006; 1: 14. Published online 2006 April 27. doi: 10.1186/1750-1172-1-14.PMCID: PMC1523324 Alpha thalassaemia-mental retardation, X linked Richard Gibbons Orphanet J Rare Dis. 2006; 1: 15. Published online 2006 May 4. doi: 10.1186/1750-1172-1-15.PMCID: PMC1464382 Orphanet J Rare Dis. 2006; 1: 16. Published online 2006 May 18. doi: 10.1186/1750-1172-1-16.PMCID: PMC1526415 Imerslund-Gräsbeck syndrome (selective vitamin B12 malabsorption with proteinuria) Ralph Gräsbeck Orphanet J Rare Dis. 2006; 1: 17. Published online 2006 May 19. doi: 10.1186/1750-1172-1-17.PMCID: PMC1513194 Kikuchi-Fujimoto disease Xavier Bosch and Antonio Guilabert Orphanet J Rare Dis. 2006; 1: 18. Published online 2006 May 23. doi: 10.1186/1750-1172-1-18.PMCID: PMC1481509 Pfeiffer syndrome Annick Vogels and Jean-Pierre Fryns Orphanet J Rare Dis. 2006; 1: 19. Published online 2006 June 1. doi: 10.1186/1750-1172-1-19.PMCID: PMC1482682 Congenital contractural arachnodactyly (Beals syndrome) Ergül Tunçbilek and Yasemin Alanay Orphanet J Rare Dis. 2006; 1: 20. Published online 2006 June 1. doi: 10.1186/1750-1172-1-20.PMCID: PMC1524931 Carney complex (CNC) Jérôme Bertherat Orphanet J Rare Dis. 2006; 1: 21. Published online 2006 June 6. doi: 10.1186/1750-1172-1-21.PMCID: PMC1513551 Microvillous inclusion disease (microvillous atrophy) Frank M Ruemmele, Jacques Schmitz, and Olivier Goulet Orphanet J Rare Dis. 2006; 1: 22. Published online 2006 June 26. doi: 10.1186/1750-1172-1-22.PMCID: PMC1523325 Nasopharyngeal carcinoma Bernadette Brennan Orphanet J Rare Dis. 2006; 1: 23. Published online 2006 June 26. doi: 10.1186/1750-1172-1-23.PMCID: PMC1559589 Hypersensitivity pneumonitis Yves Lacasse and Yvon Cormier Orphanet J Rare Dis. 2006; 1: 25. Published online 2006 July 3. doi: 10.1186/1750-1172-1-25.PMCID: PMC1533805 Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus) Griet Van Buggenhout and Jean-Pierre Fryns Orphanet J Rare Dis. 2006; 1: 26. Published online 2006 July 10. doi: 10.1186/1750-1172-1-26.PMCID: PMC1538574 Cardiomyopathy, familial dilated Matthew RG Taylor, Elisa Carniel, and Luisa Mestroni Orphanet J Rare Dis. 2006; 1: 27. Published online 2006 July 13. doi: 10.1186/1750-1172-1-27.PMCID: PMC1559590 Biliary atresia Christophe Chardot Orphanet J Rare Dis. 2006; 1: 28. Published online 2006 July 26. doi: 10.1186/1750-1172-1-28.PMCID: PMC1560371 Walker-Warburg syndrome Jiri Vajsar and Harry Schachter Orphanet J Rare Dis. 2006; 1: 29. Published online 2006 August 3. doi: 10.1186/1750-1172-1-29.PMCID: PMC1553431 Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba, and William P Cheshire Orphanet J Rare Dis. 2006; 1: 30. Published online 2006 August 9. doi: 10.1186/1750-1172-1-30.PMCID: PMC1563447 Retinoblastoma Isabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, Hervé Brisse, François Doz, and Laurence Desjardins Orphanet J Rare Dis. 2006; 1: 31. Published online 2006 August 25. doi: 10.1186/1750-1172-1-31.PMCID: PMC1586012 Congenital Cataracts – Facial Dysmorphism – Neuropathy Luba Kalaydjieva Orphanet J Rare Dis. 2006; 1: 32. Published online 2006 August 29. doi: 10.1186/1750-1172-1-32.PMCID: PMC1563997 Cri du Chat syndrome Paola Cerruti Mainardi Orphanet J Rare Dis. 2006; 1: 33. Published online 2006 September 5. doi: 10.1186/1750-1172-1-33.PMCID: PMC1574300 CHARGE syndrome Kim D Blake and Chitra Prasad Orphanet J Rare Dis. 2006; 1: 34. Published online 2006 September 7. doi: 10.1186/1750-1172-1-34.PMCID: PMC1586184 Brugada syndrome Carlo Napolitano and Silvia G Priori Orphanet J Rare Dis. 2006; 1: 35. Published online 2006 September 14. doi: 10.1186/1750-1172-1-35.PMCID: PMC1592481 Plummer-Vinson syndrome Gottfried Novacek Orphanet J Rare Dis. 2006; 1: 36. Published online 2006 September 15. doi: 10.1186/1750-1172-1-36.PMCID: PMC1586011 Ollier disease Caroline Silve and Harald Jüppner Orphanet J Rare Dis. 2006; 1: 37. Published online 2006 September 22. doi: 10.1186/1750-1172-1-37.PMCID: PMC1592482 Multiple endocrine neoplasia type 1 Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Alessia Gozzini, Ettore Luzi, and Maria Luisa Brandi Orphanet J Rare Dis. 2006; 1: 38. Published online 2006 October 2. doi: 10.1186/1750-1172-1-38.PMCID: PMC1594566 Foetal and neonatal alloimmune thrombocytopaenia Cecile Kaplan Orphanet J Rare Dis. 2006; 1: 39. Published online 2006 October 10. doi: 10.1186/1750-1172-1-39.PMCID: PMC1624806 Retinitis pigmentosa Christian Hamel Orphanet J Rare Dis. 2006; 1: 40. Published online 2006 October 11. doi: 10.1186/1750-1172-1-40.PMCID: PMC1621055 Primary sclerosing cholangitis Joy Worthington and Roger Chapman Orphanet J Rare Dis. 2006; 1: 41. Published online 2006 October 24. doi: 10.1186/1750-1172-1-41.PMCID: PMC1636629 Klinefelter syndrome and other sex chromosomal aneuploidies Jeannie Visootsak and John M Graham, Jr Orphanet J Rare Dis. 2006; 1: 42. Published online 2006 October 24. doi: 10.1186/1750-1172-1-42.PMCID: PMC1634840 Congenital pulmonary lymphangiectasia Carlo Bellini, Francesco Boccardo, Corradino Campisi, and Eugenio Bonioli Orphanet J Rare Dis. 2006; 1: 43. Published online 2006 October 30. doi: 10.1186/1750-1172-1-43.PMCID: PMC1637094 Multiple endocrine neoplasia type 2 Francesca Marini, Alberto Falchetti, Francesca Del Monte, Silvia Carbonell Sala, Isabella Tognarini, Ettore Luzi, and Maria Luisa Brandi Orphanet J Rare Dis. 2006; 1: 45. Published online 2006 November 14. doi: 10.1186/1750-1172-1-45.PMCID: PMC1654141 Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy) François Lanza Orphanet J Rare Dis. 2006; 1: 46. Published online 2006 November 16. doi: 10.1186/1750-1172-1-46.PMCID: PMC1660532 Autosomal recessive cerebellar ataxias Francesc Palau and Carmen Espinós Orphanet J Rare Dis. 2006; 1: 47. Published online 2006 November 17. doi: 10.1186/1750-1172-1-47.PMCID: PMC1664553 Early onset torsion dystonia (Oppenheim's dystonia) Christoph Kamm Orphanet J Rare Dis. 2006; 1: 48. Published online 2006 November 27. doi: 10.1186/1750-1172-1-48.PMCID: PMC1693547 Pheochromocytomas and secreting paragangliomas Pierre-François Plouin and Anne-Paule Gimenez-Roqueplo Orphanet J Rare Dis. 2006; 1: 49. Published online 2006 December 8. doi: 10.1186/1750-1172-1-49.PMCID: PMC1702343 KBG syndrome Francesco Brancati, Anna Sarkozy, and Bruno Dallapiccola Orphanet J Rare Dis. 2006; 1: 50. Published online 2006 December 12. doi: 10.1186/1750-1172-1-50.PMCID: PMC1764006 Coronary arterial fistulas Shakeel A Qureshi Orphanet J Rare Dis. 2006; 1: 51. Published online 2006 December 21. doi: 10.1186/1750-1172-1-51.PMCID: PMC1764722 |