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Journal Abstract Search

139 related items for PubMed ID: 28627835

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  • 2. De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
    Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.
    Pediatr Dermatol; 2016; 33(2):e109-13. PubMed ID: 26871653
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  • 3. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
    Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K.
    Eur J Med Genet; 2020 Sep; 63(9):103996. PubMed ID: 32622958
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  • 6. 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. PubMed ID: 22610116
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  • 7. 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 18; 164A(1):231-6. PubMed ID: 24352916
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  • 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 18; 146(6):527-40. PubMed ID: 26621776
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  • 11. 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 08; 90(6):1094-101. PubMed ID: 22608503
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  • 14. 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 08; 27(3):78-83. PubMed ID: 29595750
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  • 15. Cantú syndrome with novel pathogenic variant in nucleotide-binding domain 1 of ABCC9.
    Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.
    Pediatr Int; 2020 Oct 08; 62(10):1206-1208. PubMed ID: 32926509
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  • 16. 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 09; 293(6):2041-2052. PubMed ID: 29275331
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  • 17. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
    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.
    Am J Med Genet A; 2019 Aug 09; 179(8):1585-1590. PubMed ID: 31175705
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  • 18. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
    Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.
    Am J Med Genet A; 2013 Feb 09; 161A(2):295-300. PubMed ID: 23307537
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  • 19. Cantú syndrome as a rare cause of pericardial effusion in a young woman.
    Jesani H, Elangovan S, Zaidi A.
    Br J Hosp Med (Lond); 2019 Dec 02; 80(12):732-733. PubMed ID: 31822179
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