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Journal Abstract Search

435 related items for PubMed ID: 31837205

  • 1. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
    Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP.
    Am J Med Genet A; 2020 Feb; 182(2):357-364. PubMed ID: 31837205
    [Abstract] [Full Text] [Related]

  • 2. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
    Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM.
    Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):208-217. PubMed ID: 30896080
    [Abstract] [Full Text] [Related]

  • 3. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
    Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 4. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
    Levin MD, Saitta SC, Gripp KW, Wenger TL, Ganesh J, Kalish JM, Epstein MR, Smith R, Czosek RJ, Ware SM, Goldenberg P, Myers A, Chatfield KC, Gillespie MJ, Zackai EH, Lin AE.
    Am J Med Genet A; 2018 Aug; 176(8):1711-1722. PubMed ID: 30055033
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.
    Clin Genet; 2013 Feb; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 6. Autism traits in the RASopathies.
    Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.
    J Med Genet; 2014 Jan; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 7. A review of craniofacial and dental findings of the RASopathies.
    Cao H, Alrejaye N, Klein OD, Goodwin AF, Oberoi S.
    Orthod Craniofac Res; 2017 Jun; 20 Suppl 1(Suppl 1):32-38. PubMed ID: 28643916
    [Abstract] [Full Text] [Related]

  • 8. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B.
    Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
    [Abstract] [Full Text] [Related]

  • 9. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
    Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D.
    Endocr Regul; 2013 Oct; 47(4):217-22. PubMed ID: 24156711
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 117(5):330-337. PubMed ID: 31560489
    [Abstract] [Full Text] [Related]

  • 11. Peripheral muscle weakness in RASopathies.
    Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA.
    Muscle Nerve; 2012 Sep 01; 46(3):394-9. PubMed ID: 22907230
    [Abstract] [Full Text] [Related]

  • 12. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
    Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS.
    Am J Med Genet C Semin Med Genet; 2011 May 15; 157C(2):83-9. PubMed ID: 21500339
    [Abstract] [Full Text] [Related]

  • 13. Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
    Gross AM, Frone M, Gripp KW, Gelb BD, Schoyer L, Schill L, Stronach B, Biesecker LG, Esposito D, Hernandez ER, Legius E, Loh ML, Martin S, Morrison DK, Rauen KA, Wolters PL, Zand D, McCormick F, Savage SA, Stewart DR, Widemann BC, Yohe ME.
    Am J Med Genet A; 2020 Apr 15; 182(4):866-876. PubMed ID: 31913576
    [Abstract] [Full Text] [Related]

  • 14. Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
    Jhang WK, Choi JH, Lee BH, Kim GH, Yoo HW.
    Pediatr Cardiol; 2016 Dec 15; 37(8):1539-1547. PubMed ID: 27554254
    [Abstract] [Full Text] [Related]

  • 15. Behavioral profile in RASopathies.
    Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S.
    Am J Med Genet A; 2014 Apr 15; 164A(4):934-42. PubMed ID: 24458522
    [Abstract] [Full Text] [Related]

  • 16. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
    Bezniakow N, Gos M, Obersztyn E.
    Dev Period Med; 2014 Apr 15; 18(3):285-96. PubMed ID: 25182392
    [Abstract] [Full Text] [Related]

  • 17. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
    Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.
    Am J Med Genet A; 2014 Nov 15; 164A(11):2814-21. PubMed ID: 25250515
    [Abstract] [Full Text] [Related]

  • 18. The heart in RASopathies.
    Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G.
    Am J Med Genet C Semin Med Genet; 2022 Dec 15; 190(4):440-451. PubMed ID: 36408797
    [Abstract] [Full Text] [Related]

  • 19. [New insight of craniofacial and oral findings of the RASopathies].
    Cao HT, Yang YJ, Zheng Q, Shi B, Li CH.
    Zhonghua Kou Qiang Yi Xue Za Zhi; 2018 Dec 09; 53(12):858-861. PubMed ID: 30522213
    [Abstract] [Full Text] [Related]

  • 20. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.
    Med Clin (Barc); 2015 Jan 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

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