Publications by authors named "Elisabeth Steichen"

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The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P Phan, Camille Derderian, Elisabeth Steichen

Nat Commun· July 2025

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Pituitary Stalk Interruption Syndrome – clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns.
Ira Winkler, Elisabeth Steichen, Klaus Kapelari, Peter Wöckinger, Vera Neubauer

J Clin Res Pediatr Endocrinol· March 2025

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The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P Phan, Camille Derderian, Elisabeth Steichen

bioRxiv· September 2024

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Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Elisabeth Steichen

Nat Genet· February 2022

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Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database.
Katharina Warncke, Sebastian Kummer, Klemens Raile, Jürgen Grulich-Henn, Joachim Woelfle, Elisabeth Steichen

J Clin Endocrinol Metab· March 2019

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Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense?
Elisabeth Binder, Martina Loinger, Annelies Mühlbacher, Michael Edlinger, Elisabeth Steichen

Arch Dis Child· July 2017

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Needle detachment in a slim and physically active child with insulin pump treatment.
Christine Moser, Kathrin Maurer, Elisabeth Binder, Dagmar Meraner, Elisabeth Steichen

Pediatr Diabetes· August 2016

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ALG8-CDG: novel patients and review of the literature.
Michaela Höck, Karina Wegleiter, Elisabeth Ralser, Ursula Kiechl-Kohlendorfer, Sabine Scholl-Bürgi, Elisabeth Steichen

Orphanet J Rare Dis· June 2015

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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Saskia M Maas, Adam C Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Elisabeth Steichen

Eur J Med Genet· May 2015

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Enhanced activity of Akt in Teff cells from children with lupus nephritis is associated with reduced induction of tumor necrosis factor receptor-associated factor 6 and increased OX40 expression.
Sudhir Kshirsagar, Elisabeth Binder, Magdalena Riedl, Gottfried Wechselberger, Elisabeth Steichen

Arthritis Rheum· November 2013

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Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Patrick Edery, Charles Marcaillou, Mourad Sahbatou, Audrey Labalme, Joelle Chastang, Elisabeth Steichen

Science· April 2011

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Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.
Barbara Wiedemann, Edith Schober, Thomas Waldhoer, Julia Koehle, Sarah E Flanagan, Elisabeth Steichen

Pediatr Diabetes· February 2010

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Mutations in PYCR1 cause cutis laxa with progeroid features.
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Elisabeth Steichen

Nat Genet· September 2009

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Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, Annick Toutain, Elisabeth Steichen

Am J Hum Genet· July 2006

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Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders.
Thomas Brune, Gisele Bonne, Jonas Denecke, Nursel Elcioglu, Raoul Cm Hennekam, Elisabeth Steichen

Pediatr Endocrinol Rev· September 2004

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