共 50 条
- [41] Carriers of Loss-of-Function Mutations in ABCA1 Display Pancreatic β-Cell DysfunctionDIABETES CARE, 2010, 33 (04) : 869 - 874Vergeer, MennoBrunham, Liam R.Koetsveld, JorisKruit, Janine K.Verchere, C. BruceKastelein, John J. P.Hayden, Michael R.Stroes, Erik S. G.
- [42] Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic HypogonadismJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (05): : E808 - E814Bayram, YavuzGulsuner, SuleymanGuran, TulayAbaci, AyhanYesil, GozdeGulsuner, Hilal UnalAtay, ZeynepPierce, Sarah B.Gambin, TomaszLee, MingTuran, SerapBober, EceAtik, Mehmed M.Walsh, TomKaraca, EnderPehlivan, DavutJhangiani, Shalini N.Muzny, DonnaBereket, AbdullahBuyukgebiz, AtillaBoerwinkle, EricGibbs, Richard A.King, Mary-ClaireLupski, James R.
- [43] Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeNature Genetics, 2003, 33 : 463 - 465Catherine DodéJacqueline LevilliersJean-Michel DupontAnne De PaepeNathalie Le DûNadia Soussi-YanicostasRoney S. CoimbraSedigheh DelmaghaniSylvie Compain-NouailleFrançoise BaverelChristophe PêcheuxDominique Le TessierCorinne CruaudMarc DelpechFrank SpelemanStefan VermeulenAndrea AmalfitanoYvan BachelotPhilippe BouchardSylvie CabrolJean-Claude CarelHenriette Delemarre-van de WaalBarbara Goulet-SalmonMarie-Laure KottlerOdile RichardFranco Sanchez-FrancoRobert SauraJacques YoungChristine PetitJean-Pierre Hardelin
- [44] Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeNATURE GENETICS, 2003, 33 (04) : 463 - 465Dodé, CLevilliers, JDupont, JMDe Paepe, ALe Dû, NSoussi-Yanicostas, NCoimbra, RSDelmaghani, SCompain-Nouaille, SBaverel, FPêcheux, CLe Tessier, DCruaud, CDelpech, MSpeleman, FVermeulen, SAmalfitano, ABachelot, YBouchard, PCabrol, SCarel, JCDelemarre-van de Waal, HGoulet-Salmon, BKottler, MLRichard, OSanchez-Franco, FSaura, RYoung, JPetit, CHardelin, JP
- [45] Severe viral respiratory infections in children with IFIH1 loss-of-function mutationsPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (31) : 8342 - 8347Asgari, SamiraSchlapbach, Luregn J.Anchisi, StephanieHammer, ChristianBartha, IstvanJunier, ThomasMottet-Osman, GenevievePosfay-Barbe, Klara M.Longchamp, DavidStocker, MartinCordey, SamuelKaiser, LaurentRiedel, ThomasKenna, TonyLong, DeborahSchibler, AndreasTelenti, AmalioTapparel, CarolineMcLaren, Paul J.Garcin, DominiqueFellay, Jacques
- [46] SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionHUMAN MOLECULAR GENETICS, 2011, 20 (12) : 2297 - 2307Fassio, AnnaPatry, LysanneCongia, SoniaOnofri, FrancoPiton, AmelieGauthier, JuliePozzi, DavideMessa, MirkoDefranchi, EnricoFadda, ManuelaCorradi, AnnaBaldelli, PietroLapointe, LineSt-Onge, JudithMeloche, CarolineMottron, LaurentValtorta, FlaviaDang Khoa NguyenRouleau, Guy A.Benfenati, FabioCossette, Patrick
- [47] CADASIL brain vessels show a HTRA1 loss-of-function profileACTA NEUROPATHOLOGICA, 2018, 136 (01) : 111 - 125Zellner, AndreasScharrer, EvaArzberger, ThomasOka, ChioDomenga-Denier, ValerieJoutel, AnneLichtenthaler, Stefan F.Mueller, Stephan A.Dichgans, MartinHaffner, Christof
- [48] CADASIL brain vessels show a HTRA1 loss-of-function profileActa Neuropathologica, 2018, 136 : 111 - 125Andreas ZellnerEva ScharrerThomas ArzbergerChio OkaValérie Domenga-DenierAnne JoutelStefan F. LichtenthalerStephan A. MüllerMartin DichgansChristof Haffner
- [49] Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humansHAEMATOLOGICA, 2016, 101 (10) : E392 - E396Schipp, CyrillNabhani, SchafiqBienemann, KirstenSimanovsky, NataliaKfir-Erenfeld, ShlomitAssayag-Asherie, NathalieOommen, Prasad T.Revel-Vilk, ShoshanaHoenscheid, AndreaGombert, MichaelGinzel, SebastianSchaefer, DanielLaws, Hans-JuergenYefenof, EitanFleckenstein, BernhardBorkhardt, ArndtStepensky, PolinaFischer, Ute
- [50] Adverse events in a newborn on valproate therapy due to loss-of-function mutations in CYP2C9EPILEPSY & BEHAVIOR CASE REPORTS, 2015, 4 : 86 - 87Nagy, AndreaBudi, TamasTemesvari, MannaSzever, ZsuzsaSzabo, Pal TamasMonostory, Katalin