PubMed (cited) for id: 182530

Year	Number of Results
1992	1
1993	2
1998	1
1999	1
2000	1
2002	1
2006	2
2007	3
2008	2
2009	1
2015	1
2017	1
2019	1
2024	0

1

A molecular assembly phase transition and kinetic proofreading modulate Ras activation by SOS.

Huang WYC, Alvarez S, Kondo Y, Lee YK, Chung JK, Lam HYM, Biswas KH, Kuriyan J, Groves JT. Huang WYC, et al. Science. 2019 Mar 8;363(6431):1098-1103. doi: 10.1126/science.aau5721. Epub 2019 Mar 7. Science. 2019. PMID: 30846600 Free PMC article.

2

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

van Trier DC, Rinne T, Noordam K, Draaisma JM, van der Burgt I. van Trier DC, et al. Am J Med Genet A. 2017 Nov;173(11):2968-2972. doi: 10.1002/ajmg.a.38466. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884940

3

External ear anomalies and hearing impairment in Noonan Syndrome.

van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC. van Trier DC, et al. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25862627

4

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

Hanna N, Parfait B, Talaat IM, Vidaud M, Elsedfy HH. Hanna N, et al. Clin Genet. 2009 Jun;75(6):568-71. doi: 10.1111/j.1399-0004.2009.01149.x. Epub 2009 May 5. Clin Genet. 2009. PMID: 19438935

5

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.

Mascheroni E, Digilio MC, Cortis E, Devito R, Sarkozy A, Capolino R, Dallapiccola B, Ugazio AG. Mascheroni E, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2966-7. doi: 10.1002/ajmg.a.32538. Am J Med Genet A. 2008. PMID: 18925667 No abstract available.

6

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC. Ferrero GB, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17. Eur J Med Genet. 2008. PMID: 18678287

7

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.

8

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285

9

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

10

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. Hart TC, et al. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868160 Free PMC article.

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