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1,707 results

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Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A. Hedergott A, et al. Among authors: thiele h. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2239-46. doi: 10.1007/s00417-015-3174-0. Epub 2015 Oct 13. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 26464178 Review.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: thiele h. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P. Ahmad I, et al. Among authors: thiele h. Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28004384
Assessing the enrichment performance in targeted resequencing experiments.
Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Nürnberg P. Frommolt P, et al. Among authors: thiele h. Hum Mutat. 2012 Apr;33(4):635-41. doi: 10.1002/humu.22036. Epub 2012 Feb 28. Hum Mutat. 2012. PMID: 22290614
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE. Hübers A, et al. Among authors: thiele h. Neurobiol Aging. 2015 Nov;36(11):3117.e1-3117.e6. doi: 10.1016/j.neurobiolaging.2015.08.005. Epub 2015 Aug 15. Neurobiol Aging. 2015. PMID: 26362943
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: thiele h. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa S, Chung BH, Tung JY, Altmüller J, Thiele H, Nürnberg P, Netzer C, Nishimura G, Wollnik B. Moosa S, et al. Among authors: thiele h. Clin Genet. 2016 Apr;89(4):517-519. doi: 10.1111/cge.12678. Epub 2015 Oct 14. Clin Genet. 2016. PMID: 26467156 No abstract available.
1,707 results