Results 61 to 70 of about 2,023 (102)

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. [PDF]

Am J Med Genet C Semin Med Genet, 2019
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G.   +14 more
europepmc   +1 more source

Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity. [PDF]

J Clin Invest, 2020
McClenaghan C, Huang Y, Yan Z, Harter TM, Halabi CM, Chalk R, Kovacs A, van Haaften G, Remedi MS, Nichols CG.   +9 more
europepmc   +1 more source

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1. [PDF]

Am J Med Genet A
Gao J, Ververi A, Thompson E, Tryon R, Sotiriadis A, Rouvalis F, Grange DK, Giannios C, Nichols CG.   +8 more
europepmc   +1 more source

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents. [PDF]

J Cell Mol Med, 2019
Houtman MJC, Chen X, Qile M, Duran K, van Haaften G, Stary-Weinzinger A, van der Heyden MAG.   +6 more
europepmc   +1 more source

Cantú syndrome with coexisting familial pituitary adenoma. [PDF]

Endocrine, 2018
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M.   +7 more
europepmc   +1 more source

WITHDRAWAL: Cantú Syndrome: A New Case and Evolution of Clinical Conditions During First 2-Year Follow-Up. [PDF]

Clin Case Rep
europepmc   +1 more source

Cantú Syndrome Associated with Ovarian Agenesis. [PDF]

Mol Syndromol, 2017
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC.   +8 more
europepmc   +1 more source

Cardiovascular consequences of KATP overactivity in Cantu syndrome. [PDF]

JCI Insight, 2018
Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG.   +12 more
europepmc   +1 more source

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. [PDF]

Am J Med Genet A, 2019
Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG.   +15 more
europepmc   +1 more source

Clinical utility gene card for: Cantú syndrome. [PDF]

Eur J Hum Genet, 2017
Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.   +7 more
europepmc   +1 more source