BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 28371864)

  • 1. A multicentre study of patients with Timothy syndrome.
    Walsh MA; Turner C; Timothy KW; Seller N; Hares DL; James AF; Hancox JC; Uzun O; Boyce D; Stuart AG; Brennan P; Sarton C; McGuire K; Newbury-Ecob RA; Mcleod K
    Europace; 2018 Feb; 20(2):377-385. PubMed ID: 28371864
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8).
    Krause U; Gravenhorst V; Kriebel T; Ruschewski W; Paul T
    Clin Res Cardiol; 2011 Dec; 100(12):1123-7. PubMed ID: 21915623
    [No Abstract]   [Full Text] [Related]  

  • 3. Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
    Sepp R; Hategan L; Bácsi A; Cseklye J; Környei L; Borbás J; Széll M; Forster T; Nagy I; Hegedűs Z
    Am J Med Genet A; 2017 Mar; 173(3):784-789. PubMed ID: 28211989
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.
    Hermida A; Jedraszak G; Kubala M; Mathiron A; Berna P; Bennis Y; Hermida JS
    Gene; 2021 Apr; 777():145465. PubMed ID: 33524520
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
    Landstrom AP; Boczek NJ; Ye D; Miyake CY; De la Uz CM; Allen HD; Ackerman MJ; Kim JJ
    Int J Cardiol; 2016 Oct; 220():290-8. PubMed ID: 27390944
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
    Diep V; Seaver LH
    Am J Med Genet A; 2015 Nov; 167A(11):2780-5. PubMed ID: 26227324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder.
    Dufendach KA; Timothy K; Ackerman MJ; Blevins B; Pflaumer A; Etheridge S; Perry J; Blom NA; Temple J; Chowdhury D; Skinner JR; Johnsrude C; Bratincsak A; Bos JM; Shah M
    JACC Clin Electrophysiol; 2018 Apr; 4(4):459-466. PubMed ID: 30067485
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.
    Kosaki R; Ono H; Terashima H; Kosaki K
    Am J Med Genet A; 2018 Jul; 176(7):1657-1661. PubMed ID: 29736926
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.
    Corona-Rivera JR; Barrios-Prieto E; Nieto-García R; Bloise R; Priori S; Napolitano C; Bobadilla-Morales L; Corona-Rivera A; Zapata-Aldana E; Peña-Padilla C; Rivera-Vargas J; Chavana-Naranjo E
    Eur J Med Genet; 2015; 58(6-7):332-5. PubMed ID: 25882468
    [TBL] [Abstract][Full Text] [Related]  

  • 10. International Cohort of Neonatal Timothy Syndrome.
    Matthews A; Timothy K; Golden A; Gonzalez Corcia MC
    Neonatology; 2024; 121(3):388-395. PubMed ID: 38211567
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
    Boczek NJ; Miller EM; Ye D; Nesterenko VV; Tester DJ; Antzelevitch C; Czosek RJ; Ackerman MJ; Ware SM
    Heart Rhythm; 2015 Jan; 12(1):211-9. PubMed ID: 25260352
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
    Hiippala A; Tallila J; Myllykangas S; Koskenvuo JW; Alastalo TP
    Am J Med Genet A; 2015 Mar; 167A(3):629-34. PubMed ID: 25691416
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
    Baurand A; Falcon-Eicher S; Laurent G; Villain E; Bonnet C; Thauvin-Robinet C; Jacquot C; Eicher JC; Gourraud JB; Schmitt S; Bézieau S; Giraud M; Dumont S; Kuentz P; Probst V; Burguet A; Kyndt F; Faivre L
    Am J Med Genet A; 2017 Feb; 173(2):531-536. PubMed ID: 27868338
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8).
    Ergül Y; Özyılmaz İ; Haydın S; Güzeltaş A; Tuzcu V
    Anatol J Cardiol; 2015 Aug; 15(8):672-4. PubMed ID: 26301350
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel Gain-of-Function Variant in
    Kelu Bisabu K; Zhao J; Mokrane AE; Segura É; Marsolais M; Grondin S; Naas E; Gagnon J; Cadrin-Tourigny J; Aguilar M; Mongeon FP; Talajic M; Parent L; Tadros R
    Circ Genom Precis Med; 2020 Dec; 13(6):e003123. PubMed ID: 33191761
    [No Abstract]   [Full Text] [Related]  

  • 16. Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
    Wemhöner K; Friedrich C; Stallmeyer B; Coffey AJ; Grace A; Zumhagen S; Seebohm G; Ortiz-Bonnin B; Rinné S; Sachse FB; Schulze-Bahr E; Decher N
    J Mol Cell Cardiol; 2015 Mar; 80():186-95. PubMed ID: 25633834
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.
    Han D; Xue X; Yan Y; Li G
    Exp Biol Med (Maywood); 2019 Sep; 244(12):960-971. PubMed ID: 31324123
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.
    Fukuyama M; Ohno S; Ozawa J; Kato K; Makiyama T; Nakagawa Y; Horie M
    Circ J; 2020 Mar; 84(4):559-568. PubMed ID: 32161207
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
    Fukuyama M; Wang Q; Kato K; Ohno S; Ding WG; Toyoda F; Itoh H; Kimura H; Makiyama T; Ito M; Matsuura H; Horie M
    Europace; 2014 Dec; 16(12):1828-37. PubMed ID: 24728418
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of Timothy syndrome with adrenal medullary dystrophy.
    Kawaida M; Abe T; Nakanishi T; Miyahara Y; Yamagishi H; Sakamoto M; Yamada T
    Pathol Int; 2016 Oct; 66(10):587-592. PubMed ID: 27593853
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.