Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome

By Kratz Christian P.   Steinemann Doris   Niemeyer Charlotte M.   Schlegelberger Brigitte   Koscielniak Ewa   Kontny Udo   Zenker Martin  

Human Molecular Genetics, Vol. 16, Iss. 4, 2007-02 ,pp. : 374-379

Oxford University Press

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Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

By Lorenz Sybille   Lissewski Christina   Simsek-Kiper Pelin O.   Alanay Yasemin   Boduroglu Koray   Zenker Martin   Rosenberger Georg  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1643-1653

Oxford University Press

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Duplication of Glu 37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

By Gremer Lothar   De Luca Alessandro   Merbitz-Zahradnik Torsten   Dallapiccola Bruno   Morlot Susanne   Tartaglia Marco   Kutsche Kerstin   Ahmadian Mohammad Reza   Rosenberger Georg  

Human Molecular Genetics, Vol. 19, Iss. 5, 2010-03 ,pp. : 790-802

Oxford University Press

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Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

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Molecular Syndromology, Vol. 8, Iss. 2, 2017-01 ,pp. : 93-97

Karger

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Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene

By Bertola Débora   Pereira Alexandre   Brasil Amanda   Albano Lilian   Kim Chong   Krieger José  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 521-526

Springer Publishing Company

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