Care for patients with ultra-rare disorders

European Journal of Medical Genetics - Tập 54 - Trang 220-224 - 2011
Raoul CM. Hennekam1
1Departments of Pediatrics and Translational Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands

Tài liệu tham khảo

Abma, 2010, Patient participation as dialogue: setting research agendas, Health Expect., 13, 160, 10.1111/j.1369-7625.2009.00549.x Allanson, 2009, Elements of morphology: introduction, Am. J. Med. Genet., 149A, 2, 10.1002/ajmg.a.32601 Ayme, 2008, Empowerment of patients: lessons from the rare diseases, Lancet, 371, 2051 2009 Ayme, 2007, Networking for rare diseases: a necessity for Europe, Bundesgesundheitsbl Gesundheitsforsch Gesundheitsschutz, 50, 1477, 10.1007/s00103-007-0381-9 Brown, 2009, Building quality in health – the need for clinical researchers, MJA, 190, 627 Gilissen, 2010, Exome sequencing identifies WDR35 variants involved in sensenbrenner syndrome, Am. J. Hum. Genet., 87, 418, 10.1016/j.ajhg.2010.08.004 Greenes, 2001, eCare and eHealth: the internet meets health care, J. Med. Pract. Manage., 17, 106 Hu, 2008, The emerging world of wikis, Science, 320, 1289, 10.1126/science.320.5881.1289b Lynch, 2010, Rate, molecular spectrum, and consequences of human mutation, Proc. Natl. Acad. Sci. U.S.A., 107, 961, 10.1073/pnas.0912629107 McCandless, 2004, The burden of genetic disease on inpatient care in a children’s hospital, Am. J. Hum. Genet., 74, 121, 10.1086/381053 Moeschler, 2008, Genetic evaluation of intellectual disabilities, Semin. Pediatr. Neurol., 15, 2, 10.1016/j.spen.2008.01.002 Olick, 2003, Malpractice liability for informal consultations, Fam. Med., 35, 476 Pierce, 2010, Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome, Am. J. Hum. Genet., 87, 282, 10.1016/j.ajhg.2010.07.007 Reed, 2006, Mutation, selection and the future of human evolution, Trends Genet., 22, 479, 10.1016/j.tig.2006.07.005 Ropers, 2007, New perspectives for the elucidation of genetic disorders, Am. J. Hum. Genet., 81, 199, 10.1086/520679 Shaw, 2009, Interpreting humanity’s genes, Eur. J. Med. Genet., 52, 379, 10.1016/j.ejmg.2009.08.002 Shaw, 2010, Phenotype and natural history in Marshall–Smith syndrome, Am. J. Med. Genet., 152A, 2714, 10.1002/ajmg.a.33709 T. Van der Valk, C. Smit. Biobanken en patiëntenorganisaties: Een (international) perspectief. [Biobanking and patient support groups: an (inter_national perspective)] Medisch Contact 2010 [in the press]. van Karnebeek, 2005, Etiology of mental retardation in children referred to a tertiary care center: a prospective study, Am. J. Ment. Retard., 110, 253, 10.1352/0895-8017(2005)110[253:EOMRIC]2.0.CO;2