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Items: 1 to 20 of 101

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 1;20(2):377-385. doi: 10.1093/europace/euw433.

PMID:
28371864
2.

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. doi: 10.1002/ajmg.a.37258. Epub 2015 Jul 31.

PMID:
26227324
3.

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. doi: 10.1016/j.jacep.2017.08.007. Epub 2017 Nov 6.

PMID:
30067485
4.

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. doi: 10.1002/ajmg.a.38084. Review.

PMID:
28211989
5.

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. doi: 10.1016/j.hrthm.2014.09.051. Epub 2014 Sep 28.

6.

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 Jun-Jul;58(6-7):332-5. doi: 10.1016/j.ejmg.2015.04.001. Epub 2015 Apr 13.

PMID:
25882468
7.

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 May 7. doi: 10.1002/ajmg.a.38833. [Epub ahead of print]

PMID:
29736926
8.

Timothy Syndrome.

Napolitano C, Splawski I, Timothy KW, Bloise R, Priori SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Feb 15 [updated 2015 Jul 16].

9.

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. doi: 10.1111/pin.12456. Epub 2016 Sep 4.

PMID:
27593853
10.

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 1;220:290-8. doi: 10.1016/j.ijcard.2016.06.081. Epub 2016 Jun 23.

PMID:
27390944
11.

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. doi: 10.1002/ajmg.a.36924.

PMID:
25691416
12.

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.

Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX.

Circ Arrhythm Electrophysiol. 2013 Jun;6(3):614-22. doi: 10.1161/CIRCEP.113.000092. Epub 2013 Apr 11. Review.

PMID:
23580742
13.

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. doi: 10.1093/europace/euu063. Epub 2014 Apr 12.

PMID:
24728418
14.

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. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Review.

PMID:
27868338
15.

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D.

Am J Med Genet A. 2012 Jan;158A(1):182-7. doi: 10.1002/ajmg.a.34355. Epub 2011 Nov 21.

16.

Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.

An HS, Choi EY, Kwon BS, Kim GB, Bae EJ, Noh CI, Choi JY, Park SS.

J Korean Med Sci. 2013 May;28(5):788-91. doi: 10.3346/jkms.2013.28.5.788. Epub 2013 May 2.

17.

Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.

Dufendach KA, Giudicessi JR, Boczek NJ, Ackerman MJ.

Pediatrics. 2013 Jun;131(6):e1991-5. doi: 10.1542/peds.2012-2941. Epub 2013 May 20.

18.

Implantable cardioverter defibrillator and survival after out-of-hospital cardiac arrest due to acute myocardial infarction in Denmark in the years 2001-2012, a nationwide study.

Winther-Jensen M, Kjaergaard J, Lassen JF, Køber L, Torp-Pedersen C, Hansen SM, Lippert F, Kragholm K, Christensen EF, Hassager C.

Eur Heart J Acute Cardiovasc Care. 2017 Mar;6(2):144-154. doi: 10.1177/2048872616687115. Epub 2017 Jan 6.

PMID:
28058848
19.

Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2).

Philipp LR, Rodriguez FH 3rd.

Proc (Bayl Univ Med Cent). 2016 Apr;29(2):160-2.

20.

Congenital long QT syndrome.

Crotti L, Celano G, Dagradi F, Schwartz PJ.

Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Review.

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