315 related articles for article (PubMed ID: 33274568)
21. 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]
22. 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]
23. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
Rauen KA; Banerjee A; Bishop WR; Lauchle JO; McCormick F; McMahon M; Melese T; Munster PN; Nadaf S; Packer RJ; Sebolt-Leopold J; Viskochil DH
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):136-46. PubMed ID: 21495172
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
Makita Y; Narumi Y; Yoshida M; Niihori T; Kure S; Fujieda K; Matsubara Y; Aoki Y
J Pediatr Hematol Oncol; 2007 May; 29(5):287-90. PubMed ID: 17483702
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G; Rosenberg J; Blaser S; Rauen KA
Dev Med Child Neurol; 2007 Dec; 49(12):894-9. PubMed ID: 18039235
[TBL] [Abstract][Full Text] [Related]
28. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
Armour CM; Allanson JE
J Med Genet; 2008 Apr; 45(4):249-54. PubMed ID: 18039946
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
Champion KJ; Bunag C; Estep AL; Jones JR; Bolt CH; Rogers RC; Rauen KA; Everman DB
Clin Genet; 2011 May; 79(5):468-74. PubMed ID: 20735442
[TBL] [Abstract][Full Text] [Related]
31. Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y; Choi Y; Seo GH; Kim GH; Choi IH; Keum C; Ko JM; Cheon CK; Jeon J; Choi JH; Yoo HW; Lee BH
J Hum Genet; 2021 Apr; 66(4):389-399. PubMed ID: 33040082
[TBL] [Abstract][Full Text] [Related]
32. Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
Karaer K; Lissewski C; Zenker M
Am J Med Genet A; 2015 Feb; 167A(2):385-8. PubMed ID: 25487361
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
Hazan F; Aykut A; Hizarcioglu M; Tavli V; Onay H; Ozkinay F
Genet Couns; 2012; 23(2):305-11. PubMed ID: 22876591
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.
Terry J; Rauen KA; Nowaczyk MJ
Pediatr Dev Pathol; 2014; 17(1):59-63. PubMed ID: 24303953
[TBL] [Abstract][Full Text] [Related]
38. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML; Sarkozy A; Pantaleoni F; Carta C; Lepri F; Ferese R; Cordeddu V; Martinelli S; Briuglia S; Digilio MC; Zampino G; Tartaglia M; Dallapiccola B
Eur J Hum Genet; 2009 Jun; 17(6):733-40. PubMed ID: 19156172
[TBL] [Abstract][Full Text] [Related]
39. Cardio
Chen B; Chen S; Xiong J; Yin F
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Apr; 46(4):432-437. PubMed ID: 33967092
[TBL] [Abstract][Full Text] [Related]
40. BRAF and MEK mutations make a late entrance.
Duesbery N; Vande Woude G
Sci STKE; 2006 Mar; 2006(328):pe15. PubMed ID: 16569817
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
