Literature DB >> 20305546

Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.

Ryszard Slezak1, Klaudiusz Luczak, Vera Kalscheuer, Thomas E Neumann, Maria M Sasiadek.   

Abstract

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Year:  2010        PMID： 20305546     DOI： 10.1097/MCD.0b013e3283375886

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  5 in total

1.  NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Authors:  Ozge Ceyhan-Birsoy; Maya M Miatkowski; Elizabeth Hynes; Birgit H Funke; Heather Mason-Suares
Journal:  Hum Mutat       Date:  2018-05-16       Impact factor: 4.878

Review 2.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

3.  In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways.

Authors:  Vinoth Sigamani; Sheeja Rajasingh; Narasimman Gurusamy; Arunima Panda; Johnson Rajasingh
Journal:  Curr Genomics       Date:  2021-12-31       Impact factor: 2.689

4.  Clinical and radiological features of nonfamilial cherubism: A case report.

Authors:  Justyna Wagel; Klaudiusz Luczak; Barbara Hendrich; Maciej Guziński; Marek Sąsiadek
Journal:  Pol J Radiol       Date:  2012-07

5.  Orphan disease: Cherubism, optic atrophy, and short stature.

Authors:  Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai
Journal:  Indian J Radiol Imaging       Date:  2018 Jan-Mar
  5 in total

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