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Diabetes|March 14, 2007
A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalitiesSabrina Prudente, Elisabetta Flex, Eleonora Morini, et al.
Human Molecular Genetics|March 29, 2008
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesSimone Martinelli, Paola Torreri, Michele Tinti, et al.
The Journal of Biological Chemistry|June 20, 2012
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndromeSimone Martinelli, Aurelio P Nardozza, Silvia Delle Vigne, et al.
Obesity (Silver Spring, Md.)|January 17, 2008
Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndromeMirella Fiorito, Isabella Torrente, Salvatore De Cosmo, et al.
Genes|September 28, 2021
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, et al.
Human Mutation|April 9, 2017
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrumFrancesca Pantaleoni, Dorit Lev, Ion C Cirstea, et al.
American Journal of Medical Genetics. Part A|December 2, 2021
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndromeChiara Leoni, Germana Viscogliosi, Roberta Onesimo, et al.
Human Mutation|January 19, 2012
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hairGiovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, et al.
American Journal of Human Genetics|December 17, 2005
Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseMarco Tartaglia, Simone Martinelli, Lorenzo Stella, et al.
The Journal of Pathology|April 17, 2024
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumorsMarialetizia Motta, Sabina Barresi, Simone Pizzi, et al.
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