Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Dietrich, N L"'
Autor:
Touchman, J W, Anikster, Y, Dietrich, N L, Maduro, V V, McDowell, G, Shotelersuk, V, Bouffard, G G, Beckstrom-Sternberg, S M, Gahl, W A, Green, E D
Publikováno v:
Genome Research; February 2000, Vol. 10 Issue: 2 p165-173, 9p
Autor:
Marra, M A, Kucaba, T A, Dietrich, N L, Green, E D, Brownstein, B, Wilson, R K, McDonald, K M, Hillier, L W, McPherson, J D, Waterston, R H
Publikováno v:
Genome Research; November 1997, Vol. 7 Issue: 11 p1072-1084, 13p
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Autor:
Coucke, P. J., Van Hauwe, P., Everett, L. A., Demirhan, O., Kabakkaya, Y., Dietrich, N. L., Smith, R. J. H., Coyle, E., Reardon, W., Trembath, R., Willems, P. J., Green, E. D., Van Camp, G.
Publikováno v:
Journal of Medical Genetics; Jun1999, p475-477, 3p, 2 Diagrams
Autor:
Coucke, P. J., Hauwe, P., Everett, L. A., Demirhan, O., Kabakkaya, Y., Dietrich, N. L., Smith, R. J. H., Coyle, E., Willie Reardon, Trembath, R., Willems, P. J., Green, E. D., Camp, G.
Publikováno v:
Scopus-Elsevier
Web of Science
Web of Science
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2d2d436343ec391f5c3ccc16607dd337
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032994602&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032994602&partnerID=MN8TOARS
Autor:
Thomas JW; Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892,USA., Touchman JW, Blakesley RW, Bouffard GG, Beckstrom-Sternberg SM, Margulies EH, Blanchette M, Siepel AC, Thomas PJ, McDowell JC, Maskeri B, Hansen NF, Schwartz MS, Weber RJ, Kent WJ, Karolchik D, Bruen TC, Bevan R, Cutler DJ, Schwartz S, Elnitski L, Idol JR, Prasad AB, Lee-Lin SQ, Maduro VV, Summers TJ, Portnoy ME, Dietrich NL, Akhter N, Ayele K, Benjamin B, Cariaga K, Brinkley CP, Brooks SY, Granite S, Guan X, Gupta J, Haghighi P, Ho SL, Huang MC, Karlins E, Laric PL, Legaspi R, Lim MJ, Maduro QL, Masiello CA, Mastrian SD, McCloskey JC, Pearson R, Stantripop S, Tiongson EE, Tran JT, Tsurgeon C, Vogt JL, Walker MA, Wetherby KD, Wiggins LS, Young AC, Zhang LH, Osoegawa K, Zhu B, Zhao B, Shu CL, De Jong PJ, Lawrence CE, Smit AF, Chakravarti A, Haussler D, Green P, Miller W, Green ED
Publikováno v:
Nature [Nature] 2003 Aug 14; Vol. 424 (6950), pp. 788-93.
Autor:
Ellsworth RE; Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Jamison DC, Touchman JW, Chissoe SL, Braden Maduro VV, Bouffard GG, Dietrich NL, Beckstrom-Sternberg SM, Iyer LM, Weintraub LA, Cotton M, Courtney L, Edwards J, Maupin R, Ozersky P, Rohlfing T, Wohldmann P, Miner T, Kemp K, Kramer J, Korf I, Pepin K, Antonacci-Fulton L, Fulton RS, Minx P, Hillier LW, Wilson RK, Waterston RH, Miller W, Green ED
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2000 Feb 01; Vol. 97 (3), pp. 1172-7.
Autor:
Van Hauwe P; Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium., Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G
Publikováno v:
Human molecular genetics [Hum Mol Genet] 1998 Jul; Vol. 7 (7), pp. 1099-104.