510 related articles for article (PubMed ID: 25370770)
41. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T; Aoki Y; Niihori T; Cavé H; Verloes A; Okamoto N; Kawame H; Fujiwara I; Takada F; Ohata T; Sakazume S; Ando T; Nakagawa N; Lapunzina P; Meneses AG; Gillessen-Kaesbach G; Wieczorek D; Kurosawa K; Mizuno S; Ohashi H; David A; Philip N; Guliyeva A; Narumi Y; Kure S; Tsuchiya S; Matsubara Y
Hum Mutat; 2010 Mar; 31(3):284-94. PubMed ID: 20052757
[TBL] [Abstract][Full Text] [Related]
42. The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G; David E; Calì E; Chimenz R; La Bella S; Di Ludovico A; Di Rosa G; Gitto E; Mankad K; Nardello R; Mangano GD; Leoni C; Ceravolo G
Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136934
[TBL] [Abstract][Full Text] [Related]
43. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y; Aoki Y; Kuriyama S; Kawame H; Okamoto N; Kurosawa K; Ohashi H; Mizuno S; Ogata T; Kure S; Niihori T; Matsubara Y;
Am J Med Genet A; 2012 May; 158A(5):1083-94. PubMed ID: 22495831
[TBL] [Abstract][Full Text] [Related]
44. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Lepri FR; Scavelli R; Digilio MC; Gnazzo M; Grotta S; Dentici ML; Pisaneschi E; Sirleto P; Capolino R; Baban A; Russo S; Franchin T; Angioni A; Dallapiccola B
BMC Med Genet; 2014 Jan; 15():14. PubMed ID: 24451042
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. The cardiofaciocutaneous syndrome.
Roberts A; Allanson J; Jadico SK; Kavamura MI; Noonan J; Opitz JM; Young T; Neri G
J Med Genet; 2006 Nov; 43(11):833-42. PubMed ID: 16825433
[TBL] [Abstract][Full Text] [Related]
47. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
Allanson JE; Annerén G; Aoki Y; Armour CM; Bondeson ML; Cave H; Gripp KW; Kerr B; Nystrom AM; Sol-Church K; Verloes A; Zenker M
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):129-35. PubMed ID: 21495173
[TBL] [Abstract][Full Text] [Related]
48. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce S; Gordon K; Brice G; Ostergaard P; Nagaraja R; Short J; Moore S; Mortimer P; Mansour S
Eur J Hum Genet; 2016 May; 24(5):690-6. PubMed ID: 26242988
[TBL] [Abstract][Full Text] [Related]
49. 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]
50. Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome.
Shionoya Y; Yamamoto M; Sunada K; Nakamura K
Anesth Prog; 2020; 67(1):45-47. PubMed ID: 32191511
[TBL] [Abstract][Full Text] [Related]
51. [Influence of paternal age in schizophrenia].
Hubert A; Szöke A; Leboyer M; Schürhoff F
Encephale; 2011 Jun; 37(3):199-206. PubMed ID: 21703435
[TBL] [Abstract][Full Text] [Related]
52. Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.
Akahoshi S; Hirano A; Nagamine H; Miura M
Am J Med Genet A; 2020 Mar; 182(3):532-535. PubMed ID: 31926049
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. 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]
55.
Aoidi R; Houde N; Landry-Truchon K; Holter M; Jacquet K; Charron L; Krishnaswami SR; Yu BD; Rauen KA; Bisson N; Newbern J; Charron J
Dis Model Mech; 2018 Mar; 11(3):. PubMed ID: 29590634
[TBL] [Abstract][Full Text] [Related]
56. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S; Aoki Y; Niihori T; Okamoto N; Hennekam RC; Hopman S; Ohashi H; Mizuno S; Watanabe Y; Kamasaki H; Kondo I; Moriyama N; Kurosawa K; Kawame H; Okuyama R; Imaizumi M; Rikiishi T; Tsuchiya S; Kure S; Matsubara Y
J Hum Genet; 2010 Dec; 55(12):801-9. PubMed ID: 20882035
[TBL] [Abstract][Full Text] [Related]
57. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
Ciara E; Pelc M; Jurkiewicz D; Kugaudo M; Gieruszczak-Białek D; Skórka A; Posmyk R; Jakubiuk-Tomaszuk A; Cieślikowska A; Chrzanowska KH; Jezela-Stanek A; Krajewska-Walasek M
Eur J Med Genet; 2015 Jan; 58(1):14-20. PubMed ID: 25463315
[TBL] [Abstract][Full Text] [Related]
58. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S; Wilbe M; Dahlgren J; Legius E; van Haeringen A; Westphal O; Annerén G; Bondeson ML
BMC Med Genet; 2015 Oct; 16():95. PubMed ID: 26467218
[TBL] [Abstract][Full Text] [Related]
59. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Bessis D; Morice-Picard F; Bourrat E; Abadie C; Aouinti S; Baumann C; Best M; Bursztejn AC; Capri Y; Chiaverini C; Coubes C; Giuliano F; Hadj-Rabia S; Jacquemont ML; Lacombe D; Lyonnet S; Mallet S; Mazereeuw-Hautier J; Miquel J; Molinari N; Parfait B; Pernet C; Philip N; Pinson L; Pouvreau N; Vial Y; Sarda P; Sigaudy S; Verloes A; Cavé H; Geneviève D
Br J Dermatol; 2019 Jan; 180(1):172-180. PubMed ID: 30141192
[TBL] [Abstract][Full Text] [Related]
60. 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]
[Previous] [Next] [New Search]