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Journal Abstract Search

179 related items for PubMed ID: 23307537

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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 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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  • 6. 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 08; 164A(1):231-6. PubMed ID: 24352916
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  • 9. 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 08; 59(3):677-684. PubMed ID: 29327300
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  • 10. De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
    Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N.
    Am J Med Genet A; 2015 Oct 08; 167A(10):2418-24. PubMed ID: 26033841
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  • 14. 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 08; 146(6):527-40. PubMed ID: 26621776
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  • 15. 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 08; 179(8):1585-1590. PubMed ID: 31175705
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  • 17. Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.
    Tran TNA, Phan HN, Vu HA, Nguyen HT.
    Am J Med Genet A; 2022 Jan 08; 188(1):377-381. PubMed ID: 34453476
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  • 19. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
    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.
    Am J Med Genet C Semin Med Genet; 2019 Dec 08; 181(4):658-681. PubMed ID: 31828977
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