162 related articles for article (PubMed ID: 30414707)
1. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
Okuzono S; Fukai R; Noda M; Miyake N; Lee S; Kaku N; Sanefuji M; Akamine S; Kanno S; Ishizaki Y; Torisu H; Kira R; Matsumoto N; Sakai Y; Ohga S
Brain Dev; 2019 Apr; 41(4):378-381. PubMed ID: 30414707
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome.
Fasciano D; Wei S; Li R; Siegal GP
Pathol Res Pract; 2018 Sep; 214(9):1510-1513. PubMed ID: 30100356
[TBL] [Abstract][Full Text] [Related]
5. A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.
Wakusawa K; Kobayashi S; Abe Y; Tanaka S; Endo W; Inui T; Iwaki M; Watanabe S; Togashi N; Nara T; Niihori T; Aoki Y; Haginoya K
Brain Dev; 2014 Jan; 36(1):61-3. PubMed ID: 23340054
[TBL] [Abstract][Full Text] [Related]
6. Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Musto E; Gambardella ML; Perulli M; Quintiliani M; Veredice C; Verdolotti T; Berté G; Leoni C; Onesimo R; Pulitanò SM; Tartaglia M; Zampino G; Contaldo I; Battaglia DI
Epilepsia Open; 2024 Feb; 9(1):258-267. PubMed ID: 37943120
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
Aizaki K; Sugai K; Saito Y; Nakagawa E; Sasaki M; Aoki Y; Matsubara Y
Brain Dev; 2011 Feb; 33(2):166-9. PubMed ID: 20395089
[TBL] [Abstract][Full Text] [Related]
12. A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
Sekiguchi K; Maeda T; Suenobu S; Kunisaki N; Shimizu M; Kiyota K; Handa YS; Akiyoshi K; Korematsu S; Aoki Y; Matsubara Y; Izumi T
Am J Med Genet A; 2013 Oct; 161A(10):2600-3. PubMed ID: 23950000
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
Inoue S; Moriya M; Watanabe Y; Miyagawa-Tomita S; Niihori T; Oba D; Ono M; Kure S; Ogura T; Matsubara Y; Aoki Y
Hum Mol Genet; 2014 Dec; 23(24):6553-66. PubMed ID: 25035421
[TBL] [Abstract][Full Text] [Related]
15. Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.
Cabrera S; Morel C; Tartaglia MC
Am J Med Genet A; 2016 May; 170A(5):1251-6. PubMed ID: 26842671
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Calandrelli R; Pilato F; Panfili M; Battaglia D; Gambardella ML; Colosimo C
Neuroradiology; 2022 Jan; 64(1):185-195. PubMed ID: 34309696
[TBL] [Abstract][Full Text] [Related]
18. Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.
Dong X; Png NCY; Fortier MV; Lim JY; Wong KPL; Choo JTL; Tan EC; Jamuar SS
Am J Med Genet A; 2022 Sep; 188(9):2732-2737. PubMed ID: 35801299
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
