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Results: 11

1.

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

Thoeni CE, Vogel GF, Tancevski I, Geley S, Lechner S, Pfaller K, Hess MW, Müller T, Janecke AR, Avitzur Y, Muise A, Cutz E, Huber LA.

Traffic. 2014 Jan;15(1):22-42. doi: 10.1111/tra.12131. Epub 2013 Nov 19.

PMID:
24138727
[PubMed - indexed for MEDLINE]
2.

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

Müller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR.

Hum Mol Genet. 2013 Sep 15;22(18):3761-72. doi: 10.1093/hmg/ddt227. Epub 2013 May 23.

PMID:
23704329
[PubMed - indexed for MEDLINE]
3.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR.

Br J Ophthalmol. 2013 Feb;97(2):169-73. doi: 10.1136/bjophthalmol-2012-302355. Epub 2012 Nov 10.

PMID:
23143909
[PubMed - indexed for MEDLINE]
4.

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA.

Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10.

PMID:
22966035
[PubMed - indexed for MEDLINE]
Free Article
5.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.

Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

PMID:
22961002
[PubMed - indexed for MEDLINE]
6.

Significance of molecular testing for congenital chloride diarrhea.

Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Müller T, Janecke AR.

J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856.

PMID:
21694535
[PubMed - indexed for MEDLINE]
7.

Hypochloremic metabolic alkalosis and failure to thrive: question.

Querfeld U, Lechner S, Janecke AR.

Pediatr Nephrol. 2011 Jun;26(6):893. doi: 10.1007/s00467-010-1662-3. Epub 2010 Oct 28. No abstract available.

PMID:
20981453
[PubMed - indexed for MEDLINE]
8.

Hypochloremic metabolic alkalosis and failure to thrive: answer.

Querfeld U, Lechner S, Janecke AR.

Pediatr Nephrol. 2011 Jun;26(6):895-6. doi: 10.1007/s00467-010-1667-y. Epub 2010 Oct 28. No abstract available.

PMID:
20981452
[PubMed - indexed for MEDLINE]
9.

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA.

Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224.

PMID:
20186687
[PubMed - indexed for MEDLINE]
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.

Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.

PMID:
18724368
[PubMed - indexed for MEDLINE]
11.

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.

Am J Ophthalmol. 2006 Mar;141(3):478-487.

PMID:
16490493
[PubMed - indexed for MEDLINE]

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