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Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Among authors: jedele k. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.
FRAXE testing.
Holinski-Feder E, Chahrokh-Zadeh S, Jedele KB, Meindl A, Steinbach P, Wöhrle D. Holinski-Feder E, et al. Among authors: jedele kb. Am J Hum Genet. 1996 Nov;59(5):1168-9. Am J Hum Genet. 1996. PMID: 8900249 Free PMC article. No abstract available.
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. Jaksch M, et al. Among authors: jedele kb. J Med Genet. 1998 Nov;35(11):895-900. doi: 10.1136/jmg.35.11.895. J Med Genet. 1998. PMID: 9832034 Free PMC article.
Familial dermographism.
Jedele KB, Michels VV. Jedele KB, et al. Am J Med Genet. 1991 May 1;39(2):201-3. doi: 10.1002/ajmg.1320390216. Am J Med Genet. 1991. PMID: 2063925
16 results