140 related articles for article (PubMed ID: 33811550)
21. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y; Niihori T; Banjo T; Okamoto N; Mizuno S; Kurosawa K; Ogata T; Takada F; Yano M; Ando T; Hoshika T; Barnett C; Ohashi H; Kawame H; Hasegawa T; Okutani T; Nagashima T; Hasegawa S; Funayama R; Nagashima T; Nakayama K; Inoue S; Watanabe Y; Ogura T; Matsubara Y
Am J Hum Genet; 2013 Jul; 93(1):173-80. PubMed ID: 23791108
[TBL] [Abstract][Full Text] [Related]
22. Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.
Luo C; Yang YF; Yin BL; Chen JL; Huang C; Zhang WZ; Wang J; Zhang H; Yang JF; Tan ZP
Am J Med Genet A; 2012 Aug; 158A(8):1918-23. PubMed ID: 22786616
[TBL] [Abstract][Full Text] [Related]
23. Occurrence of high-grade glioma in Noonan syndrome: Report of two cases.
El-Ayadi M; Ansari M; Kühnöl CD; Bendel A; Sturm D; Pietsch T; Kramm CM; von Bueren AO
Pediatr Blood Cancer; 2019 May; 66(5):e27625. PubMed ID: 30693642
[TBL] [Abstract][Full Text] [Related]
24. Clinical and molecular characterization of 40 patients with Noonan syndrome.
Ferrero GB; Baldassarre G; Delmonaco AG; Biamino E; Banaudi E; Carta C; Rossi C; Silengo MC
Eur J Med Genet; 2008; 51(6):566-72. PubMed ID: 18678287
[TBL] [Abstract][Full Text] [Related]
25. The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.
Shatokhina O; Bostanova F; Bulakh M; Beresneva A; Ryzhkova O
Clin Genet; 2024 May; 105(5):573-580. PubMed ID: 38332451
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J; Huckstadt V; Mucciolo M; Lepri F; Novelli A; Gravina LP; Obregon MG
Am J Med Genet A; 2020 Feb; 182(2):409-414. PubMed ID: 31825158
[TBL] [Abstract][Full Text] [Related]
28. Pilocytic astrocytoma in a child with Noonan syndrome.
Schuettpelz LG; McDonald S; Whitesell K; Desruisseau DM; Grange DK; Gurnett CA; Wilson DB
Pediatr Blood Cancer; 2009 Dec; 53(6):1147-9. PubMed ID: 19621452
[TBL] [Abstract][Full Text] [Related]
29. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
Addissie YA; Kotecha U; Hart RA; Martinez AF; Kruszka P; Muenke M
Am J Med Genet A; 2015 Nov; 167A(11):2657-63. PubMed ID: 26249544
[TBL] [Abstract][Full Text] [Related]
30. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM; Steenhaut P; Bernard P; Race V; Sznajer Y
Eur J Obstet Gynecol Reprod Biol; 2019 Sep; 240():232-241. PubMed ID: 31336229
[TBL] [Abstract][Full Text] [Related]
31. Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR; Yamamoto GL; Almeida TF; Buscarilli M; Jorge AA; Malaquias AC; Kim CA; Takahashi VN; Passos-Bueno MR; Pereira AC
Am J Med Genet A; 2014 Nov; 164A(11):2952-7. PubMed ID: 25124994
[TBL] [Abstract][Full Text] [Related]
32. Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
Baldassarre G; Mussa A; Banaudi E; Rossi C; Tartaglia M; Silengo M; Ferrero GB
Am J Med Genet A; 2014 Dec; 164A(12):3120-5. PubMed ID: 25331583
[TBL] [Abstract][Full Text] [Related]
33. Prolapse of all cardiac valves in Noonan syndrome.
Otikunta AN; Subbareddy YV; Polamuri P; Thakkar A
BMJ Case Rep; 2015 Feb; 2015():. PubMed ID: 25716036
[TBL] [Abstract][Full Text] [Related]
34. Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.
Sublett JA; Prada CE; Jefferies JL
Eur J Med Genet; 2017 Dec; 60(12):680-684. PubMed ID: 28911804
[TBL] [Abstract][Full Text] [Related]
35. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
Allanson JE
Am J Med Genet A; 2016 Oct; 170(10):2570-7. PubMed ID: 27155212
[TBL] [Abstract][Full Text] [Related]
36. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
Garren B; Stephan M; Hogue JS
Am J Med Genet A; 2020 Jan; 182(1):195-200. PubMed ID: 31697451
[TBL] [Abstract][Full Text] [Related]
37. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome.
Menashe M; Arbel R; Raveh D; Achiron R; Yagel S
Ultrasound Obstet Gynecol; 2002 Jan; 19(1):51-5. PubMed ID: 11851968
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
Ramond F; Duband S; Croisille P; Cavé H; Teyssier G; Adouard V; Touraine R
Eur J Med Genet; 2017 Jun; 60(6):299-302. PubMed ID: 28347726
[TBL] [Abstract][Full Text] [Related]
40. 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
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]