These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 32926509)

  • 1. 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; 62(10):1206-1208. PubMed ID: 32926509
    [No Abstract]   [Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel variants of ABCC9 in Japanese children with Cantú syndrome.
    Kubota K; Yamamoto T; Miyatake S; Matsumoto N; Fukao T
    Pediatr Int; 2020 Mar; 62(3):410-412. PubMed ID: 32198910
    [No Abstract]   [Full Text] [Related]  

  • 4. 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; 63(5):991-995. PubMed ID: 28627835
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 44(7):793-6. PubMed ID: 22610116
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 24176758
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 179(8):1585-1590. PubMed ID: 31175705
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 90(6):1094-101. PubMed ID: 22608503
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 29327300
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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):. PubMed ID: 28051078
    [No Abstract]   [Full Text] [Related]  

  • 12. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
    Ohko K; Nakajima K; Nakajima H; Hiraki Y; Kubota K; Fukao T; Miyatake S; Matsumoto N; Sano S
    J Dermatol; 2020 Mar; 47(3):306-310. PubMed ID: 31907964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 29595750
    [No Abstract]   [Full Text] [Related]  

  • 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. PubMed ID: 24352916
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 26621776
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 161A(2):295-300. PubMed ID: 23307537
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 181(4):658-681. PubMed ID: 31828977
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 80(12):732-733. PubMed ID: 31822179
    [No Abstract]   [Full Text] [Related]  

  • 19. Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K
    McClenaghan C; Hanson A; Sala-Rabanal M; Roessler HI; Josifova D; Grange DK; van Haaften G; Nichols CG
    J Biol Chem; 2018 Feb; 293(6):2041-2052. PubMed ID: 29275331
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Three-dimensional facial morphology in Cantú syndrome.
    Roessler HI; Shields K; Grange DK; Knoers NVAM; van Haaften G; Hammond P; van Haelst MM
    Am J Med Genet A; 2020 May; 182(5):1041-1052. PubMed ID: 32100467
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.