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Items: 1 to 20 of 32

1.

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Roessler HI, Volker-Touw CML, Terhal PA, van Haaften G, van Haelst MM.

Clin Dysmorphol. 2018 Jul;27(3):78-83. doi: 10.1097/MCD.0000000000000219. No abstract available.

PMID:
29595750
2.

Cantú syndrome with coexisting familial pituitary adenoma.

Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M.

Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11.

3.

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG.

J Biol Chem. 2018 Feb 9;293(6):2041-2052. doi: 10.1074/jbc.RA117.000351. Epub 2017 Dec 22.

PMID:
29275331
4.

Cantú Syndrome Associated with Ovarian Agenesis.

Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC.

Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10.

5.

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.

Kim H, Kim S, Jeon H, Kim J, Yoo J, Seong M, Park S.

Clin Lab. 2017 May 1;63(5):991-995. doi: 10.7754/Clin.Lab.2017.170107.

6.

Clinical utility gene card for: Cantú syndrome.

Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. No abstract available.

7.

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.

Leon Guerrero CR, Pathak S, Grange DK, Singh GK, Nichols CG, Lee JM, Vo KD.

Neurology. 2016 Jul 19;87(3):270-6. doi: 10.1212/WNL.0000000000002861. Epub 2016 Jun 17.

8.

K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.

Levin MD, Singh GK, Zhang HX, Uchida K, Kozel BA, Stein PK, Kovacs A, Westenbroek RE, Catterall WA, Grange DK, Nichols CG.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6773-8. doi: 10.1073/pnas.1606465113. Epub 2016 May 31.

9.

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

Cooper PE, Sala-Rabanal M, Lee SJ, Nichols CG.

J Gen Physiol. 2015 Dec;146(6):527-40. doi: 10.1085/jgp.201511495.

10.

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Levin MD, Zhang H, Uchida K, Grange DK, Singh GK, Nichols CG.

Heart Rhythm. 2015 Nov;12(11):2316-24. doi: 10.1016/j.hrthm.2015.06.042. Epub 2015 Jun 30.

11.

Cantú Syndrome and Related Disorders.

Grange DK, Nichols CG, Singh GK.

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.
2014 Oct 2.

12.

A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension.

Park JY, Koo SH, Jung YJ, Lim YJ, Chung ML.

Am J Med Genet A. 2014 Aug;164A(8):2118-20. doi: 10.1002/ajmg.a.36563. Epub 2014 Apr 8. No abstract available.

PMID:
24715715
13.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG.

Hum Mutat. 2014 Jul;35(7):809-13. doi: 10.1002/humu.22555. Epub 2014 May 6.

14.

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N.

Am J Med Genet A. 2014 Jan;164A(1):231-6. doi: 10.1002/ajmg.a.36228. Epub 2013 Nov 25.

PMID:
24352916
15.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.

Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.

16.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
17.

Cantú syndrome is caused by mutations in ABCC9.

van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.

Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.

18.

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.

Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.

19.

Short-term follow-up of a Brazilian patient with Cantú syndrome.

Graziadio C, Rosa RF, Rosa RC, Zen PR, Flores JA, Paskulin GA.

Am J Med Genet A. 2011 May;155A(5):1184-8. doi: 10.1002/ajmg.a.33904. Epub 2011 Apr 4. No abstract available.

PMID:
21465652
20.

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S.

Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885. Epub 2011 Feb 22.

PMID:
21344641

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