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Journal Abstract Search

229 related items for PubMed ID: 23463723

  • 1. 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; 161A(5):1073-7. PubMed ID: 23463723
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  • 3. 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; 58(2):86-94. PubMed ID: 25464108
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  • 4. 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; 25(6):694-701. PubMed ID: 28422132
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  • 5. 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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  • 9. 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; 11(4):e2127. PubMed ID: 36564961
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  • 11. Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
    Bianchi PM, Bianchi A, Digilio MC, Tucci FM, Sitzia E, De Vincentiis GC.
    Int J Pediatr Otorhinolaryngol; 2017 Dec; 103():109-112. PubMed ID: 29224748
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  • 12. 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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  • 14. KBG syndrome in a Chinese population: A case series.
    Ho S, Luk HM, Lo IFM.
    Am J Med Genet A; 2022 Jun 17; 188(6):1693-1699. PubMed ID: 35174959
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  • 16. KBG syndrome: Common and uncommon clinical features based on 31 new patients.
    Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC.
    Am J Med Genet A; 2020 May 17; 182(5):1073-1083. PubMed ID: 32124548
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  • 18. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
    Tunovic S, Barkovich J, Sherr EH, Slavotinek AM.
    Am J Med Genet A; 2014 Jul 17; 164A(7):1744-9. PubMed ID: 24838796
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