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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1982 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2016 | 3 |
2018 | 1 |
2024 | 0 |
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7 results
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Page 1
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.
Am J Hum Genet. 2013.
PMID: 23791108
Free PMC article.
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J.
Gos M, et al.
Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17.
Am J Med Genet A. 2014.
PMID: 24939608
No abstract available.
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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA.
Koenighofer M, et al.
Clin Genet. 2016 Mar;89(3):359-66. doi: 10.1111/cge.12608. Epub 2015 Jun 4.
Clin Genet. 2016.
PMID: 25959749
Free PMC article.
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Medical ethics and torture.
Sagan LA, Jonsen AR.
Sagan LA, et al.
JAMA. 1982 Sep 17;248(11):1307-8. doi: 10.1001/jama.1982.03330110015007.
JAMA. 1982.
PMID: 7109146
No abstract available.
Item in Clipboard
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M.
Kouz K, et al.
Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21.
Genet Med. 2016.
PMID: 27101134
Free article.
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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K.
Meyer Zum Büschenfelde U, et al.
PLoS Genet. 2018 May 7;14(5):e1007370. doi: 10.1371/journal.pgen.1007370. eCollection 2018 May.
PLoS Genet. 2018.
PMID: 29734338
Free PMC article.
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Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Milosavljević D, Overwater E, Tamminga S, de Boer K, Elting MW, van Hoorn ME, Rinne T, Houweling AC.
Milosavljević D, et al.
Am J Med Genet A. 2016 Jul;170(7):1874-80. doi: 10.1002/ajmg.a.37657. Epub 2016 Apr 25.
Am J Med Genet A. 2016.
PMID: 27109146
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