메뉴 건너뛰기




Volumn 53, Issue 6, 2009, Pages 538-547

The European Prader-Willi Syndrome clinical research database: An aid in the investigation of a rare genetically determined neurodevelopmental disorder

Author keywords

Database; International collaboration; Prader Willi syndrome; Research aid

Indexed keywords

ACCESS TO INFORMATION; ALGORITHM; ARTICLE; CLINICAL RESEARCH; DATA BASE; EUROPE; GENETIC DISORDER; INFORMATION PROCESSING; INFORMATION SYSTEM; INTERNET; MEDICAL INFORMATION; NEUROLOGIC DISEASE; PRADER WILLI SYNDROME;

EID: 65949114856     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2009.01172.x     Document Type: Article
Times cited : (9)

References (14)
  • 1
    • 0037065539 scopus 로고    scopus 로고
    • Psychotic illness in people with Prader Willi Syndrome due to chromosome 15 maternal uniparental disomy
    • Boer H., Holland A. J., Whittington J., Butler J., Webb T. & Clarke D. (2002) Psychotic illness in people with Prader Willi Syndrome due to chromosome 15 maternal uniparental disomy. The Lancet 359, 135-6.
    • (2002) The Lancet , vol.359 , pp. 135-136
    • Boer, H.1    Holland, A.J.2    Whittington, J.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 2
    • 0142027581 scopus 로고    scopus 로고
    • Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
    • Chai J. H., Locke D. P., Greally J. M., Knoll J. H., Ohta T., Dunai J. et al. (2003) Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. American Journal of Human Genetics 73, 898-925.
    • (2003) American Journal of Human Genetics , vol.73 , pp. 898-925
    • Chai, J.H.1    Locke, D.P.2    Greally, J.M.3    Knoll, J.H.4    Ohta, T.5    Dunai, J.6
  • 3
    • 0026409761 scopus 로고
    • Strengths and weaknesses in the cognitive profile of youngsters with Prader Willi Syndrome
    • Curfs M. G., Wiegers A. M., Sommers J. R. M., Borghgraef M. & Fryns J. P. (1991) Strengths and weaknesses in the cognitive profile of youngsters with Prader Willi Syndrome. Clinical Genetics 40, 430-4.
    • (1991) Clinical Genetics , vol.40 , pp. 430-434
    • Curfs, M.G.1    Wiegers, A.M.2    Sommers, J.R.M.3    Borghgraef, M.4    Fryns, J.P.5
  • 4
    • 0032747888 scopus 로고    scopus 로고
    • Evaluation of the impact of Chernobyl on the prevalence of congenital anomalies in 16 regions of Europe. EUROCAT Working Group
    • Dolk H. & Nichols R. (1999) Evaluation of the impact of Chernobyl on the prevalence of congenital anomalies in 16 regions of Europe. EUROCAT Working Group. International Journal of Epidemiology 28, 941-8.
    • (1999) International Journal of Epidemiology , vol.28 , pp. 941-948
    • Dolk, H.1    Nichols, R.2
  • 6
    • 33746288477 scopus 로고    scopus 로고
    • The hypothalamus, hormones, and hunger: Alterations in human obesity and illness
    • Goldstone A. P. (2006) The hypothalamus, hormones, and hunger: alterations in human obesity and illness. Progress in Brain Research 153, 57-73.
    • (2006) Progress in Brain Research , vol.153 , pp. 57-73
    • Goldstone, A.P.1
  • 8
    • 0033460213 scopus 로고    scopus 로고
    • Five years of growth hormone treatment in children with Prader-Willi syndrome
    • Lindgren A. C. & Ritzén E. M. (1999) Five years of growth hormone treatment in children with Prader-Willi syndrome. Acta Paediatrica Supplement 88, 109-11.
    • (1999) Acta Paediatrica Supplement , vol.88 , pp. 109-111
    • Lindgren, A.C.1    Ritzén, E.M.2
  • 10
    • 44349191455 scopus 로고    scopus 로고
    • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    • Sahoo T, del Gaudio D., German J. R., Shinawi M., Peters S. U., Person R. E. et al. (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics 40, 719-21.
    • (2008) Nature Genetics , vol.40 , pp. 719-721
    • Sahoo, T.1    del Gaudio, D.2    German, J.R.3    Shinawi, M.4    Peters, S.U.5    Person, R.E.6
  • 11
  • 14
    • 0034758284 scopus 로고    scopus 로고
    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi Syndrome in one UK Health Region
    • Whittington J. E., Holland A. J., Webb T., Butler J. V., Clarke D. J. & Boer H. (2001) Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi Syndrome in one UK Health Region. Journal of Medical Genetics 38, 792-8.
    • (2001) Journal of Medical Genetics , vol.38 , pp. 792-798
    • Whittington, J.E.1    Holland, A.J.2    Webb, T.3    Butler, J.V.4    Clarke, D.J.5    Boer, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.