共 50 条
- [1] Intragenic duplication of EHMT1 gene results in Kleefstra syndromeMOLECULAR CYTOGENETICS, 2014, 7Schwaibold, Eva Maria ChristinaSmogavec, MatejaHobbiebrunken, ElkeWinter, LorenzZoll, BarbaraBurfeind, PeterBrockmann, KnutPauli, Silke
- [2] Biochemical validation of EHMT1 missense mutations in Kleefstra syndromeJournal of Human Genetics, 2018, 63 : 555 - 562Ayumi YamadaChikako ShimuraYoichi Shinkai
- [3] A novel EHMT1 variant in a Turkish case with Kleefstra SyndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1105 - 1105Ersoy, AysenurGeckinli, Bilgen BilgeBaser, ZeynepHanoglu, OnurKapazan, Cekdar
- [4] Biochemical validation of EHMT1 missense mutations in Kleefstra syndromeJOURNAL OF HUMAN GENETICS, 2018, 63 (05) : 555 - 562Yamada, AyumiShimura, ChikakoShinka, Yoichi
- [5] Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 geneBMC NEUROLOGY, 2023, 23 (01)Niu, MengyueLi, YanjingZhan, ShikunSun, BominLiu, JunWu, Yiwen
- [6] Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized AssociationCASE REPORTS IN ENDOCRINOLOGY, 2018, 2018Torga, Ana PatriciaHodax, JuanitaMori, MariSchwab, JenniferQuintos, Jose Bernardo
- [7] Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesisEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 456 - 457Rots, DmitrijsYamada, AyumiForoutan, AidinMcCon-Key, HaleyKerkhof, JenniferAlders, MarielleMaystadt, IsabelleHolden, SimonBalasubramanian, MeenaMerla, GiuseppeSan-Ten, GijsBelonis, AlyceBouman, ArianneKummeling, JoostHeijligers, MalouVan Haelst, MiekeParker, MichaelPark, Soo-MiMetcalfe, KayGenevieve, DavidChatron, NicolasPutoux, AudreyPasquier, LaurentDubourg, ChristeleStrobl-Wildemann, GertrudPlomp, AstridVreeburg, MaaikeBaralle, DianaFoulds, NicolaScurr, IngridCappuccio, GerardaBrunetti-Pierri, NicolaVan Hagen, AnnetBijlsma, Emilia K.Firth, HelenForzano, FrancescaKalsner, LouisaHol, Janna A.Courage, CarolinaVanhoutte, ElsBanka, SiddharthVenselaar, HankaKasri, N. Nadifvan Bokhoven, HansBrunner, HanVissers, LisenkaShinkai, YoichiSadikovic, BekimKleefstra, Tjitske
- [8] Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 geneBMC Neurology, 23 (1)Niu M.Li Y.Zhan S.Sun B.Liu J.Wu Y.
- [9] Characterization of a Novel Transcript of the EHMT1 Gene Reveals Important Diagnostic Implications for Kleefstra SyndromeHUMAN MUTATION, 2011, 32 (07) : 853 - 859Nillesen, Willy M.Yntema, Helger G.Moscarda, MarcoVerbeek, Nienke E.Wilson, Louise C.Cowan, FrancesSchepens, MargaRaas-Rothschild, AnnickGafni-Weinstein, OrlyZollino, MarcellaVijzelaar, RaymonNeri, GiovanniNelen, Marcelvan Bokhoven, HansGiltay, JacquesKleefstra, Tjitske
- [10] REVERSIBLE WHITE MATTER LESIONS ASSOCIATED WITH MUTANT EHMT1 AND KLEEFSTRA SYNDROMENEUROLOGY-GENETICS, 2016, 2 (02)He, XuCaluseriu, OanaSrivastava, RatikaDenny, Anne MarieBolduc, Francois V.