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- [2] Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementNature Genetics, 2012, 44 : 1375 - 1381Yu SunBeata BakNadia SchoenmakersA S Paul van TrotsenburgWilma OostdijkPeter VosholEmma CambridgeJacqueline K WhitePaul le TissierS Neda Mousavy GharavyJuan P Martinez-BarberaWilhelmina H Stokvis-BrantsmaThomas VulsmaMarlies J KempersLuca PersaniIrene CampiMarco BonomiPaolo Beck-PeccozHongdong ZhuTimothy M E DavisAnita C S Hokken-KoelegaDaria Gorbenko Del BlancoJayanti J RangasamiClaudia A L RuivenkampJeroen F J LarosMarjolein KriekSarina G KantCathy A J BoschNienke R BiermaszNatasha M Appelman-DijkstraEleonora P CorssmitGuido C J HovensAlberto M PereiraJohan T den DunnenMichael G WadeMartijn H BreuningRaoul C HennekamKrishna ChatterjeeMehul T DattaniJan M WitDaniel J Bernard
- [3] Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementNATURE GENETICS, 2012, 44 (12) : 1375 - 1381Sun, YuBak, BeataSchoenmakers, Nadiavan Trotsenburg, A. S. PaulOostdijk, WilmaVoshol, PeterCambridge, EmmaWhite, Jacqueline K.le Tissier, PaulGharavy, S. Neda MousavyMartinez-Barbera, Juan P.Stokvis-Brantsma, Wilhelmina H.Vulsma, ThomasKempers, Marlies J.Persani, LucaCampi, IreneBonomi, MarcoBeck-Peccoz, PaoloZhu, HongdongDavis, Timothy M. E.Hokken-Koelega, Anita C. S.Del Blanco, Dania GorbenkoRangasami, Jayanti J.Ruivenkamp, Claudia A. L.Laros, Jeroen F. J.Kriek, MarjoleinKant, Sarina G.Bosch, Cathy A. J.Biermasz, Nienke R.Appelman-Dijkstra, Natasha M.Corssmit, Eleonora P.Hovens, Guido C. J.Pereira, Alberto M.den Dunnen, Johan T.Wade, Michael G.Breuning, Martijn H.Hennekam, Raoul C.Chatterjee, KrishnaDattani, Mehul T.Wit, Jan M.Bernard, Daniel J.
- [4] Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderHUMAN MUTATION, 2021, 42 (05) : 498 - 505Ghesh, LeilaBesnard, ThomasNizon, MathildeTrochu, EvaLandeau-Trottier, GaelleBreheret, FloraThauvin-Robinet, ChristelBruel, Ange-LineKuentz, PaulCoubes, ChristineCuisset, LaurenceMignot, CyrilKeren, BorisBezieau, StephaneCogne, Benjamin
- [5] De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesGENETICS IN MEDICINE, 2021, 23 (04) : 637 - 644Li, DongStrong, AlannaShen, Kaitlyn M.Cassiman, DavidVan Dyck, MariaLinhares, Natalia DuarteValadares, Eugenia RibeiroWang, TianchengPena, Sergio D. J.Jaeken, JaakVergano, SamanthaZackai, ElaineHing, AnneChow, PennyGanguly, ArupaScholz, TasjaBierhals, TatjanaPhilipp, DeindlHakonarson, HakonBhoj, Elizabeth
- [6] Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (01) : 65 - 71Liu, XuezhongHan, DongyiLi, JianzhongHan, BingOuyang, XiaomeiCheng, JingLi, XuJin, ZhanguoWang, YouqinBitner-Glindzicz, MariaKong, XiangyinXu, HengKantardzhieva, AlbenaEavey, Roland D.Seidman, Christine E.Seidman, Jonathan G.Du, Li L.Chen, Zheng-YiDai, PuTeng, MaikunYan, DeniseYuan, Huijun
- [7] Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsGENETICS IN MEDICINE, 2017, 19 (04) : 386 - 395Meester, Josephina A. N.Vandeweyer, GeertPintelon, IsabelLammens, MartinVan Hoorick, LanaDe Belder, SimonWaitzman, KathrynYoung, LucianaMarkham, Larry W.Vogt, JulieRicher, JulieBeauchesne, Luc M.Unger, SheilaSuperti-Furga, AndreaPrsa, MilanDhillon, RamiReyniers, EdwinDietz, Harry C.Wuyts, WimMortier, GeertVerstraeten, AlineVan Laer, LutLoeys, Bart L.
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- [9] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsyJOURNAL OF HUMAN GENETICS, 2011, 56 (08) : 561 - 565Shimojima, KeikoSugawara, MidoriShichiji, MinobuMukaida, SouichiTakayama, RumikoImai, KatsumiYamamoto, Toshiyuki
- [10] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsyJournal of Human Genetics, 2011, 56 : 561 - 565Keiko ShimojimaMidori SugawaraMinobu ShichijiSouichi MukaidaRumiko TakayamaKatsumi ImaiToshiyuki Yamamoto