E
Egbert Voss
Publications - 6
Citations - 416
Egbert Voss is an academic researcher. The author has contributed to research in topics: Mutation (genetic algorithm) & Levothyroxine. The author has an hindex of 3, co-authored 6 publications receiving 392 citations.
Papers
More filters
Journal ArticleDOI
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch,Christian Thiel,Detlev Schindler,Ursula Wick,Yanick J. Crow,Arif B. Ekici,Anthonie J. van Essen,Timm O. Goecke,Lihadh Al-Gazali,Krystyna H. Chrzanowska,Christiane Zweier,Han G. Brunner,Kristin Becker,Cynthia J. Curry,Bruno Dallapiccola,Koenraad Devriendt,Arnd Dörfler,Esther Kinning,André Mégarbané,Peter Meinecke,Robert K. Semple,Stephanie Spranger,Annick Toutain,Richard C. Trembath,Egbert Voss,Louise C. Wilson,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Francis de Zegher,Helmuth G. Dörr,André Reis +31 more
TL;DR: Using genetic linkage analysis, the authors found that mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Journal ArticleDOI
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.
TL;DR: The observation and the recent report of a mutation affecting a neighbouring residue (T411M) in a family with a variable phenotype suggest that mutations in this particular region of SHP-2 may have effects on the protein that differ from those of the classical mutations.
Journal ArticleDOI
Levothyroxine Treatment of Euthyroid Children with Autoimmune Hashimoto Thyroiditis: Results of a Multicenter, Randomized, Controlled Trial.
Helmuth G. Dörr,Markus Bettendorf,Gerhard Binder,Beate Karges,Carolin Kneppo,Heinrich Schmidt,Egbert Voss,Martin Wabitsch,Jörg Dötsch +8 more
TL;DR: L-T4 treatment can decrease the thyroid volume in euthyroid children with HT, but the effect is limited to a definite time period and had no effect on thyroid function and serum thyroid antibodies.
Journal ArticleDOI
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Helmuth-Günther Dörr,Nadja Schulze,Markus Bettendorf,Gerhard Binder,Walter Bonfig,C. Denzer,Desiree Dunstheimer,Kirsten Salzgeber,Heinrich Schmidt,Karl Otfried Schwab,Egbert Voss,Martin Wabitsch,J. Wölfle +12 more
TL;DR: In this article, a multicentre study covering 10 paediatric endocrinology centers in Bavaria and Baden-Wurttemberg was conducted to evaluate the genotype-phenotype correlation of the mutation findings.
Journal ArticleDOI
Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)
Julia Thomann,Sascha R. Tittel,Egbert Voss,Rudolf Oeverink,Katja Palm,Susanne Fricke-Otto,Klaus Kapelari,Reinhard W. Holl,Joachim Woelfle,Markus Bettendorf +9 more
TL;DR: In this article, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients.