653 related articles for article (PubMed ID: 28650561)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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; 117(5):330-337. PubMed ID: 31560489
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. [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; 144(2):67-72. PubMed ID: 25194980
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
Adachi M; Abe Y; Aoki Y; Matsubara Y
Seizure; 2012 Jan; 21(1):55-60. PubMed ID: 21871821
[TBL] [Abstract][Full Text] [Related]
11. Familial cardio-facio-cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
Rauen KA; Maeda Y; Egense A; Tidyman WE
Am J Med Genet A; 2021 Feb; 185(2):469-475. PubMed ID: 33274568
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.
Čizmárová M; Hlinková K; Bertok S; Kotnik P; Duba HC; Bertalan R; Poločková K; Košťálová Ľ; Pribilincová Z; Hlavatá A; Kovács L; Ilenčíková D
Ann Hum Genet; 2016 Jan; 80(1):50-62. PubMed ID: 26607044
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
Tidyman WE; Rauen KA
Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Noonan syndrome and clinically related disorders.
Tartaglia M; Gelb BD; Zenker M
Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):161-79. PubMed ID: 21396583
[TBL] [Abstract][Full Text] [Related]
18. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
Morcaldi G; Bellini T; Rossi C; Maghnie M; Boccardo F; Bonioli E; Bellini C
Lymphology; 2015 Sep; 48(3):121-7. PubMed ID: 26939159
[TBL] [Abstract][Full Text] [Related]
19. Neurodevelopmental Aspects of RASopathies.
Kim YE; Baek ST
Mol Cells; 2019 Jun; 42(6):441-447. PubMed ID: 31250618
[No Abstract] [Full Text] [Related]
20. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B; Santomé JL; Carcavilla A; Guillén-Navarro E; Pérez-Aytés A; Sánchez del Pozo J; García-Miñaur S; Castillo E; Alonso M; Vendrell T; Santana A; Maroto E; Galbis L
Rev Esp Cardiol (Engl Ed); 2012 May; 65(5):447-55. PubMed ID: 22465605
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
