Publications by authors named "Silvia Lechner"

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.
Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R Janecke, Claus Pototschnig

Eur J Med Res· March 2018

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Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Andreas R Janecke, Peter Heinz-Erian, Jianyi Yin, Britt-Sabina Petersen, Andre Franke, Silvia Lechner

Hum Mol Genet· December 2015

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Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.
Cornelia E Thoeni, Georg F Vogel, Ivan Tancevski, Stephan Geley, Silvia Lechner

Traffic· January 2014

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Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.
Thomas Müller, Shuji Mizumoto, Indrajit Suresh, Yoshie Komatsu, Julia Vodopiutz, Silvia Lechner

Hum Mol Genet· September 2013

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Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Markus Ritter, Julia Vodopiutz, Silvia Lechner, Elisabeth Moser, Ursula M Schmidt-Erfurth

Br J Ophthalmol· February 2013

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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Magdalena Zimoń, Jonathan Baets, Leonardo Almeida-Souza, Els De Vriendt, Jelena Nikodinovic, Silvia Lechner

Nat Genet· October 2012

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Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Eva Morava, Julia Vodopiutz, Dirk J Lefeber, Andreas R Janecke, Wolfgang M Schmidt, Silvia Lechner

Pediatrics· October 2012

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Significance of molecular testing for congenital chloride diarrhea.
Silvia Lechner, Frank M Ruemmele, Andreas Zankl, Ekkehart Lausch, Wolf-Dietrich Huber

J Pediatr Gastroenterol Nutr· July 2011

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Hypochloremic metabolic alkalosis and failure to thrive: answer.
Uwe Querfeld, Silvia Lechner, Andreas R Janecke

Pediatr Nephrol· June 2011

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Hypochloremic metabolic alkalosis and failure to thrive: question.
Uwe Querfeld, Silvia Lechner, Andreas R Janecke

Pediatr Nephrol· June 2011

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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Frank M Ruemmele, Thomas Müller, Natalia Schiefermeier, Hannes L Ebner, Silvia Lechner

Hum Mutat· May 2010

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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Thomas Müller, Michael W Hess, Natalia Schiefermeier, Kristian Pfaller, Hannes L Ebner, Silvia Lechner

Nat Genet· October 2008

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A new, X-linked endothelial corneal dystrophy.
Eduard Schmid, Walter Lisch, Wolfgang Philipp, Silvia Lechner, Wolfgang Göttinger

Am J Ophthalmol· March 2006

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