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Journal Abstract Search

286 related items for PubMed ID: 29907798

  • 21. Prenatal and perinatal history in Kabuki Syndrome.
    Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O.
    Am J Med Genet A; 2020 Jan; 182(1):85-92. PubMed ID: 31654559
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  • 22. Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
    Guo Z, Liu F, Li HJ.
    BMC Med Genet; 2018 Dec 03; 19(1):206. PubMed ID: 30509212
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  • 23. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L, Di Filippo T, Roccella M.
    Minerva Pediatr; 2015 Aug 03; 67(4):369-75. PubMed ID: 26129805
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  • 24. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
    Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G.
    Int J Mol Sci; 2017 Dec 28; 19(1):. PubMed ID: 29283410
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  • 25. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb 28; 164A(2):467-71. PubMed ID: 24311525
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  • 26. Growth charts in Kabuki syndrome 1.
    Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D.
    Am J Med Genet A; 2020 Mar 28; 182(3):446-453. PubMed ID: 31876365
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  • 27. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
    Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.
    Genet Med; 2020 Jan 28; 22(1):181-188. PubMed ID: 31363182
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  • 28. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
    Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.
    J Pediatr; 2013 Sep 28; 163(3):742-6. PubMed ID: 23535010
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  • 29. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
    Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C.
    Am J Hum Genet; 2012 Jan 13; 90(1):119-24. PubMed ID: 22197486
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  • 32. [One novel pathologic variation in KMT2D cause Kabuki syndrome with hearing loss as the main phenotype and related research on types of deafness].
    Qiu SW, Yuan YY.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep 13; 33(9):820-824. PubMed ID: 31446696
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  • 39. Growth pattern in Kabuki syndrome with a KMT2D mutation.
    Schott DA, Blok MJ, Gerver WJ, Devriendt K, Zimmermann LJ, Stumpel CT.
    Am J Med Genet A; 2016 Dec 13; 170(12):3172-3179. PubMed ID: 27530205
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