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570 related items for PubMed ID: 28250421

  • 1. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
    J Hum Genet; 2017 Aug; 62(8):741-746. PubMed ID: 28250421
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  • 2. A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Kaname T, Yanagi K.
    J Hum Genet; 2017 Aug; 62(8):739-740. PubMed ID: 28566769
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  • 4. 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; 158A(3):547-52. PubMed ID: 22307766
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  • 5. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
    Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya FS, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves MT, Sousa SB, Weksberg R.
    Hum Mol Genet; 2023 Apr 20; 32(9):1429-1438. PubMed ID: 36440975
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  • 8. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
    Eur J Hum Genet; 2017 Jun 20; 25(6):694-701. PubMed ID: 28422132
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  • 9. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
    Miyake N, Tsurusaki Y, Matsumoto N.
    Am J Med Genet C Semin Med Genet; 2014 Sep 20; 166C(3):257-61. PubMed ID: 25081545
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  • 11. 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 20; 161A(5):1073-7. PubMed ID: 23463723
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  • 20. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
    Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q.
    BMC Med Genomics; 2021 Mar 02; 14(1):68. PubMed ID: 33653342
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