196 related articles for article (PubMed ID: 30664951)
21. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Steklov M; Pandolfi S; Baietti MF; Batiuk A; Carai P; Najm P; Zhang M; Jang H; Renzi F; Cai Y; Abbasi Asbagh L; Pastor T; De Troyer M; Simicek M; Radaelli E; Brems H; Legius E; Tavernier J; Gevaert K; Impens F; Messiaen L; Nussinov R; Heymans S; Eyckerman S; Sablina AA
Science; 2018 Dec; 362(6419):1177-1182. PubMed ID: 30442762
[TBL] [Abstract][Full Text] [Related]
22. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H; Caye A; Ghedira N; Capri Y; Pouvreau N; Fillot N; Trimouille A; Vignal C; Fenneteau O; Alembik Y; Alessandri JL; Blanchet P; Boute O; Bouvagnet P; David A; Dieux Coeslier A; Doray B; Dulac O; Drouin-Garraud V; Gérard M; Héron D; Isidor B; Lacombe D; Lyonnet S; Perrin L; Rio M; Roume J; Sauvion S; Toutain A; Vincent-Delorme C; Willems M; Baumann C; Verloes A
Eur J Hum Genet; 2016 Aug; 24(8):1124-31. PubMed ID: 26757980
[TBL] [Abstract][Full Text] [Related]
23. Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
Markholt S; Andreasen L; Bjerre J; Gregersen PA; Andersen BN
Eur J Med Genet; 2023 Feb; 66(2):104695. PubMed ID: 36608738
[TBL] [Abstract][Full Text] [Related]
24. Spinal cord glioblastoma multiforme in a patient with Noonan syndrome: A clinical report.
Khan A; Soliman MAR; Ghannam MM; Jowdy PK; Hess R; Recker MJ; Reynolds RM
Clin Neurol Neurosurg; 2021 Aug; 207():106725. PubMed ID: 34153779
[TBL] [Abstract][Full Text] [Related]
25. Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
Kraoua L; Jaouadi H; Allouche M; Achour A; Kaouther H; Ahmed HB; Chaker L; Maazoul F; Ouarda F; Zaffran S; M'rad R
Mol Genet Genomic Med; 2022 Jul; 10(7):e1954. PubMed ID: 35656879
[TBL] [Abstract][Full Text] [Related]
26. Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Chinton J; Huckstadt V; Foncuberta ME; Perez MM; Bonetto MC; Gravina LP; Obregon MG
Am J Med Genet A; 2022 Aug; 188(8):2505-2508. PubMed ID: 35689529
[TBL] [Abstract][Full Text] [Related]
27. Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I; Chang VY; Capone GL; Vitte J; Benelli M; Barbetti L; Sestini R; Trevisson E; Hulsebos TJ; Giovannini M; Nelson SF; Papi L
Eur J Hum Genet; 2015 Jul; 23(7):963-8. PubMed ID: 25335493
[TBL] [Abstract][Full Text] [Related]
28. A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
Zhou P; Zhu L; Fan Q; Liu Y; Zhang T; Yang T; Chen J; Cheng Q; Li T; Chen L
Am J Med Genet A; 2020 Aug; 182(8):1967-1971. PubMed ID: 32476286
[TBL] [Abstract][Full Text] [Related]
29. Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Ferrari L; Mangano E; Bonati MT; Monterosso I; Capitanio D; Chiappori F; Brambilla I; Gelfi C; Battaglia C; Bordoni R; Riva P
Eur J Hum Genet; 2020 Oct; 28(10):1432-1445. PubMed ID: 32514133
[TBL] [Abstract][Full Text] [Related]
30. [A patient with Noonan syndrome].
Bins A; Gortzak RA
Ned Tijdschr Tandheelkd; 2013 Dec; 120(12):671-5. PubMed ID: 24555250
[TBL] [Abstract][Full Text] [Related]
31. Expanding the genetic spectrum of Noonan syndrome.
Noordam K
Horm Res; 2007; 68 Suppl 5():24-7. PubMed ID: 18174700
[TBL] [Abstract][Full Text] [Related]
32. RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P; Cheng A; Cuevas-Navarro A; Everman DB; Papageorge AG; Simanshu DK; Tankka A; Galeas J; Urisman A; McCormick F
Science; 2019 Mar; 363(6432):1226-1230. PubMed ID: 30872527
[TBL] [Abstract][Full Text] [Related]
33. Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
Siegfried A; Cances C; Denuelle M; Loukh N; Tauber M; Cavé H; Delisle MB
Am J Med Genet A; 2017 Apr; 173(4):1061-1065. PubMed ID: 28328117
[TBL] [Abstract][Full Text] [Related]
34. [A case report of Noonan syndrome diagnosed in primary healthcare].
Villaroel-Vargas J; Molina-Vargas L; Zurita-Leal A; Zavala-Calahorrano A
Medwave; 2020 Feb; 20(2):e7826. PubMed ID: 32119651
[TBL] [Abstract][Full Text] [Related]
35. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X; Yao R; Tan X; Li N; Ding Y; Li J; Chang G; Chen Y; Ma L; Wang J; Fu L; Wang X
Clin Genet; 2019 Oct; 96(4):290-299. PubMed ID: 31219622
[TBL] [Abstract][Full Text] [Related]
36. IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.
Bertelloni S; Baroncelli GI; Dati E; Ghione S; Baldinotti F; Toschi B; Simi P
Hormones (Athens); 2013; 12(1):86-92. PubMed ID: 23624134
[TBL] [Abstract][Full Text] [Related]
37. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.
Colley A; Donnai D; Evans DG
Clin Genet; 1996 Feb; 49(2):59-64. PubMed ID: 8740913
[TBL] [Abstract][Full Text] [Related]
38. Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G; Baban A; De Luca E; Leonardi B; Pongiglione G; Digilio MC
Am J Med Genet A; 2016 Mar; 170(3):665-9. PubMed ID: 26686981
[TBL] [Abstract][Full Text] [Related]
39. LZTR1: A promising adaptor of the CUL3 family.
Zhang H; Cao X; Wang J; Li Q; Zhao Y; Jin X
Oncol Lett; 2021 Jul; 22(1):564. PubMed ID: 34113392
[TBL] [Abstract][Full Text] [Related]
40. Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.
McWilliams GD; SantaCruz K; Hart B; Clericuzio C
Am J Med Genet A; 2016 Jan; 170A(1):195-201. PubMed ID: 26377682
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]