Janecke A - Search Results

1

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A. von Brederlow B, et al. Among authors: janecke a. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

2

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A. Janecke AR, et al. Hum Mutat. 1999;13(2):133-40. doi: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U. Hum Mutat. 1999. PMID: 10094549

3

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

4

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Thompson DA, et al. Among authors: janecke ar. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269441

5

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: janecke a. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924

6

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A. Schuster A, et al. Among authors: janecke ar. Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31. doi: 10.1167/iovs.06-0628. Invest Ophthalmol Vis Sci. 2007. PMID: 17389517

7

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: janecke a. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

8

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Le Guédard-Méreuze S, Vaché C, Baux D, Faugère V, Larrieu L, Abadie C, Janecke A, Claustres M, Roux AF, Tuffery-Giraud S. Le Guédard-Méreuze S, et al. Among authors: janecke a. Hum Mutat. 2010 Mar;31(3):347-55. doi: 10.1002/humu.21193. Hum Mutat. 2010. PMID: 20052763

9

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Dafinger C, et al. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. J Clin Invest. 2011. PMID: 21633164 Free PMC article.

10

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: janecke ar. 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.

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