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Items: 15

1.

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ.

Neurology. 2003 Jun 10;60(11):1811-6.

PMID:
12796536
2.

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.

Donaldson MR, Yoon G, Fu YH, Ptacek LJ.

Ann Med. 2004;36 Suppl 1:92-7. Review.

PMID:
15176430
3.

Management and treatment of Andersen-Tawil syndrome (ATS).

Sansone V, Tawil R.

Neurotherapeutics. 2007 Apr;4(2):233-7. Review.

PMID:
17395133
4.

[A new type of periodic paralysis: Andersen-Tawil syndrome].

Pouget J.

Bull Acad Natl Med. 2008 Nov;192(8):1551-6; discussion 1556-7. Review. French.

PMID:
19445372
5.

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Tristani-Firouzi M, Etheridge SP.

Pflugers Arch. 2010 Jul;460(2):289-94. doi: 10.1007/s00424-010-0820-6. Epub 2010 Mar 21. Review.

PMID:
20306271
6.

Andersen-Tawil syndrome: clinical and molecular aspects.

Nguyen HL, Pieper GH, Wilders R.

Int J Cardiol. 2013 Dec 5;170(1):1-16. Review.

PMID:
24383070
7.

Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome.

Rajakulendran S, Tan SV, Hanna MG.

Pract Neurol. 2010 Aug;10(4):227-31. doi: 10.1136/jnnp.2010.217794. Review.

PMID:
20647529
8.

Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome.

Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M.

Curr Cardiol Rev. 2014 Aug;10(3):222-8. Review.

9.

Andersen-Tawil Syndrome.

Statland JM, Tawil R, Venance SL.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Nov 22 [updated 2015 Sep 3].

10.

Regulation of the ATP-sensitive K channel Kir6.2 by ATP and PIP(2).

Ribalet B, John SA, Xie LH, Weiss JN.

J Mol Cell Cardiol. 2005 Jul;39(1):71-7. Review.

PMID:
15978904
11.

Activation of inwardly rectifying potassium (Kir) channels by phosphatidylinosital-4,5-bisphosphate (PIP2): interaction with other regulatory ligands.

Xie LH, John SA, Ribalet B, Weiss JN.

Prog Biophys Mol Biol. 2007 Jul;94(3):320-35. Epub 2006 Jun 19. Review.

PMID:
16837026
12.
13.

[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

Márquez MF, Totomoch-Serra A, Vargas-Alarcón G, Cruz-Robles D, Pellizzon OA, Cárdenas M.

Arch Cardiol Mex. 2014 Oct-Dec;84(4):278-85. doi: 10.1016/j.acmx.2013.12.007. Epub 2014 Sep 27. Review. Spanish.

PMID:
25270337
14.

A potential molecular target for morphological defects of fetal alcohol syndrome: Kir2.1.

Bates EA.

Curr Opin Genet Dev. 2013 Jun;23(3):324-9. doi: 10.1016/j.gde.2013.05.001. Epub 2013 Jun 4. Review.

PMID:
23756044
15.

[Genetic syndromology. Introduction to a series].

Seemanová E.

Cas Lek Cesk. 2002 May 24;141(10):299-303. Review. Czech.

PMID:
12078581

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