392 related articles for article (PubMed ID: 29590634)
21. Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.
Chen J; Che L; Xu C; Zhao S; Yang J; Li M; Li G; Shen Y
Gene; 2020 Apr; 733():144369. PubMed ID: 31972311
[TBL] [Abstract][Full Text] [Related]
22. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME; Magoulas PL; Adi S; Kavamura MI; Neri G; Noonan J; Pierpont EI; Reinker K; Roberts AE; Shankar S; Sullivan J; Wolford M; Conger B; Santa Cruz M; Rauen KA
Pediatrics; 2014 Oct; 134(4):e1149-62. PubMed ID: 25180280
[TBL] [Abstract][Full Text] [Related]
23. Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P; Rauen KA
Methods Enzymol; 2008; 438():277-89. PubMed ID: 18413255
[TBL] [Abstract][Full Text] [Related]
24. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Geoghegan S; King G; Henchliffe J; Ramsden SC; Barry RJ; Green AJ; O'Connell SM
Am J Med Genet A; 2018 Jul; 176(7):1637-1640. PubMed ID: 29704308
[TBL] [Abstract][Full Text] [Related]
25. Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.
Tidyman WE; Lee HS; Rauen KA
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):104-14. PubMed ID: 21495178
[TBL] [Abstract][Full Text] [Related]
26. 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; 18(3):285-96. PubMed ID: 25182392
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome.
Inoue SI; Morozumi N; Yoshikiyo K; Maeda H; Aoki Y
Hum Mol Genet; 2019 Jan; 28(1):74-83. PubMed ID: 30239744
[TBL] [Abstract][Full Text] [Related]
29. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
[TBL] [Abstract][Full Text] [Related]
30. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y; Aoki Y; Niihori T; Neri G; Cavé H; Verloes A; Nava C; Kavamura MI; Okamoto N; Kurosawa K; Hennekam RC; Wilson LC; Gillessen-Kaesbach G; Wieczorek D; Lapunzina P; Ohashi H; Makita Y; Kondo I; Tsuchiya S; Ito E; Sameshima K; Kato K; Kure S; Matsubara Y
Am J Med Genet A; 2007 Apr; 143A(8):799-807. PubMed ID: 17366577
[TBL] [Abstract][Full Text] [Related]
31. Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
Moriya M; Inoue S; Miyagawa-Tomita S; Nakashima Y; Oba D; Niihori T; Hashi M; Ohnishi H; Kure S; Matsubara Y; Aoki Y
Hum Mol Genet; 2015 Dec; 24(25):7349-60. PubMed ID: 26472072
[TBL] [Abstract][Full Text] [Related]
32. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
Siegel DH; McKenzie J; Frieden IJ; Rauen KA
Br J Dermatol; 2011 Mar; 164(3):521-9. PubMed ID: 21062266
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.
Papadopoulou E; Sifakis S; Sol-Church K; Klein-Zighelboim E; Stabley DL; Raissaki M; Gripp KW; Kalmanti M
Am J Med Genet A; 2011 Mar; 155A(3):605-11. PubMed ID: 21337689
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL; Albrecht B; Arici C; van der Burgt I; Buske A; Gillessen-Kaesbach G; Heller R; Horn D; Hübner CA; Korenke GC; König R; Kress W; Krüger G; Meinecke P; Mücke J; Plecko B; Rossier E; Schinzel A; Schulze A; Seemanova E; Seidel H; Spranger S; Tuysuz B; Uhrig S; Wieczorek D; Kutsche K; Zenker M
Clin Genet; 2008 Jan; 73(1):62-70. PubMed ID: 18042262
[TBL] [Abstract][Full Text] [Related]
37. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P; Tetsu O; Tidyman WE; Estep AL; Conger BA; Cruz MS; McCormick F; Rauen KA
Science; 2006 Mar; 311(5765):1287-90. PubMed ID: 16439621
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
Cirstea IC; Gremer L; Dvorsky R; Zhang SC; Piekorz RP; Zenker M; Ahmadian MR
Hum Mol Genet; 2013 Jan; 22(2):262-70. PubMed ID: 23059812
[TBL] [Abstract][Full Text] [Related]
40. Craniofacial and dental development in Costello syndrome.
Goodwin AF; Oberoi S; Landan M; Charles C; Massie JC; Fairley C; Rauen KA; Klein OD
Am J Med Genet A; 2014 Jun; 164A(6):1425-30. PubMed ID: 24668879
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
