167 related articles for article (PubMed ID: 31145547)
21. Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.
Jaffré F; Miller CL; Schänzer A; Evans T; Roberts AE; Hahn A; Kontaridis MI
Circulation; 2019 Jul; 140(3):207-224. PubMed ID: 31163979
[TBL] [Abstract][Full Text] [Related]
22. Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways.
Takenouchi T; Sakamoto Y; Miwa T; Torii C; Kosaki R; Kishi K; Takahashi T; Kosaki K
Am J Med Genet A; 2014 Nov; 164A(11):2869-72. PubMed ID: 25123707
[TBL] [Abstract][Full Text] [Related]
23. Leopard syndrome.
Sarkozy A; Digilio MC; Dallapiccola B
Orphanet J Rare Dis; 2008 May; 3():13. PubMed ID: 18505544
[TBL] [Abstract][Full Text] [Related]
24. Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
van den Berg H; Schreuder WH; Jongmans M; van Bommel-Slee D; Witsenburg B; de Lange J
Eur J Med Genet; 2016 Aug; 59(8):425-8. PubMed ID: 27238887
[TBL] [Abstract][Full Text] [Related]
25. LEOPARD syndrome: clinical diagnosis in the first year of life.
Digilio MC; Sarkozy A; de Zorzi A; Pacileo G; Limongelli G; Mingarelli R; Calabrò R; Marino B; Dallapiccola B
Am J Med Genet A; 2006 Apr; 140(7):740-6. PubMed ID: 16523510
[TBL] [Abstract][Full Text] [Related]
26. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
Kato H; Yoshida R; Tsukamoto K; Suga H; Eto H; Higashino T; Araki J; Ogata T; Yoshimura K
Int J Dermatol; 2010 Oct; 49(10):1146-51. PubMed ID: 20883402
[TBL] [Abstract][Full Text] [Related]
27. Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
Zhang J; Shen J; Cheng R; Ni C; Liang J; Li M; Yao Z
Mol Med Rep; 2016 Sep; 14(3):2639-43. PubMed ID: 27484170
[TBL] [Abstract][Full Text] [Related]
28. [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]
29. 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
[TBL] [Abstract][Full Text] [Related]
30. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.
Wu X; Simpson J; Hong JH; Kim KH; Thavarajah NK; Backx PH; Neel BG; Araki T
J Clin Invest; 2011 Mar; 121(3):1009-25. PubMed ID: 21339642
[TBL] [Abstract][Full Text] [Related]
31. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
Conboy E; Dhamija R; Wang M; Xie J; Dyck PJ; Bridges AG; Spinner RJ; Clayton AC; Watson RE; Messiaen L; Babovic-Vuksanovic D
J Med Genet; 2016 Feb; 53(2):123-6. PubMed ID: 26337637
[TBL] [Abstract][Full Text] [Related]
32. Is Raf1 a nexus for cardiac hypertrophic signaling in human disease?
Del Re DP; Sadoshima J
J Mol Cell Cardiol; 2011 Jul; 51(1):1-3. PubMed ID: 21539844
[No Abstract] [Full Text] [Related]
33. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M; Moncini S; Cisternino M; Morella IM; Ferraiuolo S; Russo S; Mannarino S; Brazzelli V; Coi P; Zippel R; Venturin M; Riva P
Am J Med Genet A; 2010 Sep; 152A(9):2176-84. PubMed ID: 20683980
[TBL] [Abstract][Full Text] [Related]
34. Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA; Nishizawa T; Komoike Y; Yagi H; Furutani M; Amo R; Kamisago M; Momma K; Katayama H; Nakagawa M; Fujiwara Y; Matsushima M; Mizuno K; Tokuyama M; Hirota H; Muneuchi J; Higashinakagawa T; Matsuoka R
Nat Genet; 2007 Aug; 39(8):1013-7. PubMed ID: 17603482
[TBL] [Abstract][Full Text] [Related]
35. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
Takenouchi T; Sakamoto Y; Sato H; Suzuki H; Uehara T; Ohsone Y; Kosaki K
Am J Med Genet A; 2018 Dec; 176(12):2777-2780. PubMed ID: 30450715
[TBL] [Abstract][Full Text] [Related]
36. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
37. Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Hahn A; Lauriol J; Thul J; Behnke-Hall K; Logeswaran T; Schänzer A; Böğürcü N; Garvalov BK; Zenker M; Gelb BD; von Gerlach S; Kandolf R; Kontaridis MI; Schranz D
Am J Med Genet A; 2015 Apr; 167A(4):744-51. PubMed ID: 25708222
[TBL] [Abstract][Full Text] [Related]
38. Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.
Monda E; Prosnitz A; Aiello R; Lioncino M; Norrish G; Caiazza M; Drago F; Beattie M; Tartaglia M; Russo MG; Colan SD; Calcagni G; Gelb BD; Kaski JP; Roberts AE; Limongelli G
Circ Genom Precis Med; 2023 Aug; 16(4):350-358. PubMed ID: 37199218
[TBL] [Abstract][Full Text] [Related]
39. PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
Digilio MC; Sarkozy A; Pacileo G; Limongelli G; Marino B; Dallapiccola B
Eur J Pediatr; 2006 Nov; 165(11):803-5. PubMed ID: 16733669
[TBL] [Abstract][Full Text] [Related]
40. Noonan syndrome with multiple lentigines and associated craniosynostosis.
McDonald BS; Pigors M; Kelsell DP; O'Toole EA; Burkitt-Wright E; Kerr B; Batta K
Clin Exp Dermatol; 2018 Apr; 43(3):357-359. PubMed ID: 29356064
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
