These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
22. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. Baban A; Olivini N; Lepri FR; Calì F; Mucciolo M; Digilio MC; Calcagni G; di Mambro C; Dallapiccola B; Adorisio R; Novelli A; Drago F Am J Med Genet A; 2019 Oct; 179(10):2083-2090. PubMed ID: 31368652 [TBL] [Abstract][Full Text] [Related]
23. Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. Moncini S; Bonati MT; Morella I; Ferrari L; Brambilla R; Riva P Eur J Hum Genet; 2015 Nov; 23(11):1531-7. PubMed ID: 25712082 [TBL] [Abstract][Full Text] [Related]
24. Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. Li K; Ann Thomas M; Haber RM J Cutan Med Surg; 2013; 17(3):212-8. PubMed ID: 23673306 [TBL] [Abstract][Full Text] [Related]
25. A novel SOS1 mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways. Tumurkhuu M; Saitoh M; Takita J; Mizuno Y; Mizuguchi M J Recept Signal Transduct Res; 2013 Apr; 33(2):124-8. PubMed ID: 23528009 [TBL] [Abstract][Full Text] [Related]
26. Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype. Santoro C; Giugliano T; Melone MAB; Cirillo M; Schettino C; Bernardo P; Cirillo G; Perrotta S; Piluso G Clin Genet; 2018 Jan; 93(1):138-143. PubMed ID: 28456002 [TBL] [Abstract][Full Text] [Related]
27. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. Ko JM; Kim JM; Kim GH; Yoo HW J Hum Genet; 2008; 53(11-12):999-1006. PubMed ID: 19020799 [TBL] [Abstract][Full Text] [Related]
28. Noonan Syndrome in Thai Children. Boonchooduang N; Louthrenoo O; Tanpaiboon P Indian Pediatr; 2020 Oct; 57(10):967-968. PubMed ID: 33089815 [TBL] [Abstract][Full Text] [Related]
29. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. Narumi Y; Aoki Y; Niihori T; Sakurai M; Cavé H; Verloes A; Nishio K; Ohashi H; Kurosawa K; Okamoto N; Kawame H; Mizuno S; Kondoh T; Addor MC; Coeslier-Dieux A; Vincent-Delorme C; Tabayashi K; Aoki M; Kobayashi T; Guliyeva A; Kure S; Matsubara Y J Hum Genet; 2008; 53(9):834-841. PubMed ID: 18651097 [TBL] [Abstract][Full Text] [Related]
30. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. Chen PC; Wakimoto H; Conner D; Araki T; Yuan T; Roberts A; Seidman C; Bronson R; Neel B; Seidman JG; Kucherlapati R J Clin Invest; 2010 Dec; 120(12):4353-65. PubMed ID: 21041952 [TBL] [Abstract][Full Text] [Related]
31. [New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1]. Dereure O Ann Dermatol Venereol; 2008; 135(8-9):624-5. PubMed ID: 18789305 [No Abstract] [Full Text] [Related]
32. Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation. Dori Y; Smith C; Pinto E; Snyder K; March ME; Hakonarson H; Belasco J Pediatrics; 2020 Dec; 146(6):. PubMed ID: 33219052 [TBL] [Abstract][Full Text] [Related]
33. Understanding SOS (Son of Sevenless). Pierre S; Bats AS; Coumoul X Biochem Pharmacol; 2011 Nov; 82(9):1049-56. PubMed ID: 21787760 [TBL] [Abstract][Full Text] [Related]
34. Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins. McBride KL Am J Med Genet A; 2013 Jan; 161A(1):230-1. PubMed ID: 23239527 [No Abstract] [Full Text] [Related]
35. Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. Salem B; Hofherr S; Turner J; Doros L; Smpokou P J Pediatr Hematol Oncol; 2016 Nov; 38(8):e278-e282. PubMed ID: 27258033 [TBL] [Abstract][Full Text] [Related]
36. Acute lymphoblastic leukemia in the context of RASopathies. Cavé H; Caye A; Strullu M; Aladjidi N; Vignal C; Ferster A; Méchinaud F; Domenech C; Pierri F; Contet A; Cacheux V; Irving J; Kratz C; Clavel J; Verloes A Eur J Med Genet; 2016 Mar; 59(3):173-8. PubMed ID: 26855057 [TBL] [Abstract][Full Text] [Related]
37. Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. Leach NT; Wilson Mathews DR; Rosenblum LS; Zhou Z; Zhu H; Heim RA Genet Med; 2019 Feb; 21(2):417-425. PubMed ID: 29907801 [TBL] [Abstract][Full Text] [Related]
38. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. Ferrero GB; Picco G; Baldassarre G; Flex E; Isella C; Cantarella D; Corà D; Chiesa N; Crescenzio N; Timeus F; Merla G; Mazzanti L; Zampino G; Rossi C; Silengo M; Tartaglia M; Medico E Hum Mutat; 2012 Apr; 33(4):703-9. PubMed ID: 22253195 [TBL] [Abstract][Full Text] [Related]
39. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. Chinton J; Huckstadt V; Moresco A; Gravina LP; Obregon MG Arch Argent Pediatr; 2019 Oct; 117(5):330-337. PubMed ID: 31560489 [TBL] [Abstract][Full Text] [Related]
40. A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. Prasad RM; Mody RJ; Myers G; Mullins M; Naji Z; Geiger JD Pediatr Blood Cancer; 2018 Nov; 65(11):e27362. PubMed ID: 30039904 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]