Janecke AR - Search Results

1

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.

Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.

2

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

Janecke AR, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G. Janecke AR, et al. Hum Genet. 2001 Mar;108(3):269-70. doi: 10.1007/s004390100484. Hum Genet. 2001. PMID: 11354642

3

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

Janecke AR, Hirst-Stadlmann A, Günther B, Utermann B, Müller T, Löffler J, Utermann G, Nekahm-Heis D. Janecke AR, et al. Hum Genet. 2002 Aug;111(2):145-53. doi: 10.1007/s00439-002-0762-y. Epub 2002 Jul 3. Hum Genet. 2002. PMID: 12189487

4

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.

Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H. Frühwirth M, et al. Among authors: janecke ar. J Pediatr. 2003 Apr;142(4):441-7. doi: 10.1067/mpd.2003.148. J Pediatr. 2003. PMID: 12712065

5

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

Günther B, Steiner A, Nekahm-Heis D, Albegger K, Zorowka P, Utermann G, Janecke A. Günther B, et al. Hum Mutat. 2003 Aug;22(2):180. doi: 10.1002/humu.9167. Hum Mutat. 2003. PMID: 12872268

6

Joubert-like syndrome unlinked to known candidate loci.

Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G. Janecke AR, et al. J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010. J Pediatr. 2004. PMID: 14760273

7

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA. Janecke AR, et al. J Pediatr. 2004 Nov;145(5):705-9. doi: 10.1016/j.jpeds.2004.07.024. J Pediatr. 2004. PMID: 15520786

8

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hellemans J, et al. Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403. Hum Mutat. 2006. PMID: 16470551

9

A new, X-linked endothelial corneal dystrophy.

Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR. Schmid E, et al. Among authors: janecke ar. Am J Ophthalmol. 2006 Mar;141(3):478-487. doi: 10.1016/j.ajo.2005.10.020. Am J Ophthalmol. 2006. PMID: 16490493

10

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. Müller T, et al. Among authors: janecke ar. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368

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