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Journal Abstract Search

180 related items for PubMed ID: 35833929

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  • 2. 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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  • 3. 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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  • 4. 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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  • 6. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
    Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M.
    Am J Med Genet A; 2023 Apr 14; 191(4):1044-1049. PubMed ID: 36628575
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  • 11. 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 14; 158A(3):547-52. PubMed ID: 22307766
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  • 15. 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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  • 18. A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.
    Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW.
    Ann Lab Med; 2014 Sep 17; 34(5):390-4. PubMed ID: 25187894
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  • 20. 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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