共 50 条
- [41] A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathyHuman Genome Variation, 2 (1)Tetsuya OdaHui XiongKazuhiro KobayashiShuo WangWataru SatakeHui JiaoYanling YangPei-Chieng ChaYukiko K HayashiIchizo NishinoYutaka SuzukiSumio SuganoXiru WuTatsushi Toda
- [42] A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney diseaseMEDICINE, 2024, 103 (13) : E27853Wei, TingZhang, BingTang, WeiLi, XinShuai, ZhuangTang, TaoZhang, YueyangDeng, LinLiu, Qingsong
- [43] Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family HistoryAMERICAN JOURNAL OF KIDNEY DISEASES, 2008, 52 (06) : 1042 - 1050Reed, BereniceMcFann, KimKimberling, William J.Pei, YorkGabow, Patricia A.Christopher, KarenPetersen, EricKelleher, CatherineFain, Pamela R.Johnson, AnnSchrier, Robert W.
- [44] De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaPLOS ONE, 2016, 11 (03):Strom, Samuel P.Clark, Michael J.Martinez, AriadnaGarcia, SarahAbelazeem, Amira A.Matynia, AnnaParikh, SachinSullivan, Lori S.Bowne, Sara J.Daiger, Stephen P.Gorin, Michael B.
- [45] Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxaCLINICAL AND EXPERIMENTAL DERMATOLOGY, 2022, 47 (10) : 1895 - 1897Makino, TeruhikoTerada, YoshiyukiMizawa, MegumiHirono, KeiichiAdachi, YuichiAoki, SatomiKubo, AkiharuShimizu, Tadamichi
- [46] Aneurysms in autosomal dominant polycystic kidney disease; high rates of de novo formation and screening failuresJOURNAL OF NEUROSURGERY, 2018, 128 (04) : 41 - 41Wilkinson, D. AndrewChaudhary, NeerajGemmete, JosephThompson, B.Pandey, Aditya
- [47] De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsGENETICS IN MEDICINE, 2022, 24 (09) : 1952 - 1966Dias, Kerith-RaeCarlston, Colleen M.Blok, Laura E. R.De Hayr, LachlanNawaz, UrwahEvans, Carey-AnneBayrak-Toydemir, PinarHtun, StephanieZhu, YingMa, AlanLynch, Sally AnnMoorwood, CatherineStals, KarenEllard, SianBainbridge, Matthew N.Friedman, JenniferPappas, John G.Rabin, RachelNowak, Catherine B.Douglas, JessicaWilson, Theodore E.Sacoto, Maria J. GuillenMullegama, Sureni, VPalculict, Timothy BlakeKirk, Edwin P.Pinner, Jason R.Edwards, MatthewMontanari, FrancescaGraziano, ClaudioPippucci, TommasoDingmann, BriGlass, IanMefford, Heather C.Shimoji, TakeyoshiSuzuki, ToshimitsuYamakawa, KazuhiroStreff, HaleySchaaf, Christian P.Slavotinek, Anne M.Voineagu, IrinaCarey, John C.Buckley, Michael F.Schenck, AnnetteHarvey, Robert J.Roscioli, Tony
- [48] A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathyNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 811 - 811Toda, T.Xiong, H.Oda, T.Kobayashi, K.Wang, S.Satake, W.Jiao, H.Yang, Y.Suzuki, Y.Sugano, S.Wu, X.
- [49] Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual DisabilityAMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (03) : 306 - 316Hamdan, Fadi F.Gauthier, JulieAraki, YoichiLin, Da-TingYoshizawa, YuhkiHigashi, KyoheiPark, A-ReumSpiegelman, DanDobrzeniecka, SylviaPiton, AmelieTomitori, HideyukiDaoud, HusseinMassicotte, ChristineHenrion, EdouardDiallo, OusmaneShekarabi, MasoudMarineau, ClaudeShevell, MichaelMaranda, BrunoMitchell, GrantNadeau, AmelieD'Anjou, GuyVanasse, MichelSrour, MyriamLafreniere, Ronald G.Drapeau, PierreLacaille, Jean ClaudeKim, EunjoonLee, Jae-RanIgarashi, KazueiHuganir, Richard L.Rouleau, Guy A.Michaud, Jacques L.
- [50] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (03) : 378 - 383Hamanaka, KoheiSugawara, YujiShimoji, TakeyoshiNordtveit, Tone IreneKato, MitsuhiroNakashima, MitsukoSaitsu, HirotomoSuzuki, ToshimitsuYamakawa, KazuhiroAukrust, IngvildHouge, GunnarMitsuhashi, SatomiTakata, AtsushiIwama, KazuhiroAlkanaq, AhmedFujita, AtsushiImagawa, EriMizuguchi, TakeshiMiyake, NorikoMiyatake, SatokoMatsumoto, Naomichi