HuGE Literature Finder
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| Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of medical genetics 2015 Apr 52 (4): 256-61. Sant David W, Margraf Rebecca L, Stevenson David A, Grossmann Allie H, Viskochil David H, Hanson Heather, Everitt Melanie D, Rios Jonathan J, Elefteriou Florent, Hennessey Theresa, Mao Ro |
| Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. Pediatric research 2009 Mar 65 (3): 334-40. Yoshida Nao, Yagasaki Hiroshi, Xu Yinyan, Matsuda Kazuyuki, Yoshimi Ayami, Takahashi Yoshiyuki, Hama Asahito, Nishio Nobuhiro, Muramatsu Hideki, Watanabe Nobuhiro, Matsumoto Kimikazu, Kato Koji, Ueyama Junichi, Inada Hiroko, Goto Hiroaki, Yabe Miharu, Kudo Kazuko, Mimaya Junichi, Kikuchi Akira, Manabe Atsushi, Koike Kenichi, Kojima Sei |
| PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genetic testing 2006 10 (3): 186-91. Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduar |
| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. American journal of human genetics 2005 Dec 77 (6): 1092-101. De Luca Alessandro, Bottillo Irene, Sarkozy Anna, Carta Claudio, Neri Cinzia, Bellacchio Emanuele, Schirinzi Annalisa, Conti Emanuela, Zampino Giuseppe, Battaglia Agatino, Majore Silvia, Rinaldi Maria M, Carella Massimo, Marino Bruno, Pizzuti Antonio, Digilio Maria Cristina, Tartaglia Marco, Dallapiccola Bru |
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