Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

Autor: Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C., Poustka, A., Mason, P. J., Dokal, I.

Publikováno v: British journal of haematology, 107(2), 335-339. Wiley-Blackwell

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and growth retardation. Its pathogenesis is unknown. X-linked dyskeratosis conge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::9f4f7526d1d817fd92fb63acfc36dd64
https://pure.amc.nl/en/publications/unexplained-aplastic-anaemia-immunodeficiency-and-cerebellar-hypoplasia-hoyeraalhreidarsson-syndrome-due-to-mutations-in-the-dyskeratosis-congenita-gene-dkc1(f3a4cfca-490e-470b-87c9-2f491039bf72).html

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Autor: Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I

Publikováno v: Journal of Medical Genetics; Dec1998, Vol. 35 Issue 12, p993-996, 4p, 1 Black and White Photograph, 4 Diagrams, 1 Chart

RNA—protein interactions in the 5′ untranslated region of preproinsulin mRNA

Autor: Knight, S. W., Docherty, K.

Publikováno v: Journal of Molecular Endocrinology; June 1992, Vol. 8 Issue: 3 p225-234, 10p

Mutation analysis of the DKC1 gene in incontinentia pigmenti [2]

Autor: Heiss, N. S., Poustka, A., Knight, S. W., Aradhya, S., Nelson, D. L., Lewis, R. A., Esposito, T., Alfredo Ciccodicola, D Urso, M., Smahi, A., Heuertz, S., Munnich, A.

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0d4840811a7e131c4840d898d7f064ca
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032736326&partnerID=MN8TOARS

A role for the RNase III enzyme DCR-1 in RNA interference and germ line development in Caenorhabditis elegans.

Autor: Knight SW; Department of Biochemistry and Howard Hughes Medical Institute, University of Utah, 50 North Medical Drive, Room 211, Salt Lake City, UT 84132, USA., Bass BL

Publikováno v: Science (New York, N.Y.) [Science] 2001 Sep 21; Vol. 293 (5538), pp. 2269-71. Date of Electronic Publication: 2001 Aug 02.