Janecke AR - Search Results

1

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

2

Mutation analysis in glycogen storage disease type 1 non-a.

Janecke AR, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, Fresser F, Stöckler-Ipsiroglu S, Hoffmann GF, Utermann G. Janecke AR, et al. Hum Genet. 2000 Sep;107(3):285-9. doi: 10.1007/s004390000371. Hum Genet. 2000. PMID: 11071391

3

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes.

Müller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Frühwirth M, Offner F, Hofer S, Müller W, Booth IW, Heinz-Erian P. Müller T, et al. Gastroenterology. 2000 Dec;119(6):1506-13. doi: 10.1053/gast.2000.20514. Gastroenterology. 2000. PMID: 11113072

4

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR. Löffler J, et al. Among authors: janecke ar. Eur J Hum Genet. 2001 Mar;9(3):226-30. doi: 10.1038/sj.ejhg.5200607. Eur J Hum Genet. 2001. PMID: 11313763

5

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

6

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family.

Janecke AR, Unsinn K, Kreczy A, Baldissera I, Gassner I, Neu N, Utermann G, Müller T. Janecke AR, et al. J Med Genet. 2001 Apr;38(4):265-9. doi: 10.1136/jmg.38.4.265. J Med Genet. 2001. PMID: 11370633 Free PMC article. No abstract available.

7

Molecular genetics of type 1 glycogen storage disease.

Janecke AR, Mayatepek E, Utermann G. Janecke AR, et al. Mol Genet Metab. 2001 Jun;73(2):117-25. doi: 10.1006/mgme.2001.3179. Mol Genet Metab. 2001. PMID: 11386847 Review.

8

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

Haberlandt E, Löffler J, Hirst-Stadlmann A, Stöckl B, Judmaier W, Fischer H, Heinz-Erian P, Müller T, Utermann G, Smith RJ, Janecke AR. Haberlandt E, et al. Among authors: janecke ar. J Med Genet. 2001 Jun;38(6):405-9. doi: 10.1136/jmg.38.6.405. J Med Genet. 2001. PMID: 11424924 Free PMC article. No abstract available.

9

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

10

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.

Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba HC, Utermann G. Loeffler J, et al. Am J Med Genet A. 2003 Jan 30;116A(3):290-4. doi: 10.1002/ajmg.a.10902. Am J Med Genet A. 2003. PMID: 12503109 Review.

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