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Journal Abstract Search

494 related items for PubMed ID: 27605097

  • 1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
    Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.
    Am J Med Genet A; 2016 Nov; 170(11):2847-2859. PubMed ID: 27605097
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  • 2. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
    Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J.
    Am J Med Genet A; 2013 Apr; 161A(4):835-40. PubMed ID: 23494856
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  • 4. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
    Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M.
    Genes (Basel); 2021 Aug 17; 12(8):. PubMed ID: 34440431
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  • 6. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
    Sacharow S, Li D, Fan YS, Tekin M.
    Am J Med Genet A; 2012 Mar 17; 158A(3):547-52. PubMed ID: 22307766
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  • 9. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
    Kim HJ, Cho E, Park JB, Im WY, Kim HJ.
    Eur J Med Genet; 2015 Feb 17; 58(2):86-94. PubMed ID: 25464108
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  • 10. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
    De Bernardi ML, Ivanovski I, Caraffi SG, Maini I, Street ME, Bayat A, Zollino M, Lepri FR, Gnazzo M, Errichiello E, Superti-Furga A, Garavelli L.
    Am J Med Genet A; 2018 Sep 17; 176(9):1991-1995. PubMed ID: 30088855
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  • 11. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
    Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.
    Eur J Hum Genet; 2015 Sep 17; 23(9):1176-85. PubMed ID: 25424714
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  • 13. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
    Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH.
    Mol Genet Genomic Med; 2023 Apr 17; 11(4):e2127. PubMed ID: 36564961
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  • 14. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.
    Miyatake S, Murakami A, Okamoto N, Sakamoto M, Miyake N, Saitsu H, Matsumoto N.
    Am J Med Genet A; 2013 May 17; 161A(5):1073-7. PubMed ID: 23463723
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  • 17. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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  • 20. KBG syndrome in a Chinese population: A case series.
    Ho S, Luk HM, Lo IFM.
    Am J Med Genet A; 2022 Jun 14; 188(6):1693-1699. PubMed ID: 35174959
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