共 50 条
- [21] Immunodeficiency and Severe Susceptibility to Bacteria Associated with a Loss-of-Function Homozygous Mutation of MKL1JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S502 - S503Record, J.Malinova, D.Zenner, H. L.Plagnol, V.Nowak, K.Moulding, D.Bouma, G.Curtis, J.Gilmour, K.Hackett, S.Nejentsev, S.Thrasher, A. J.Burns, S. O.
- [22] PITX2c Loss-of-Function Mutations Responsible for Congenital Atrial Septal DefectsINTERNATIONAL JOURNAL OF MEDICAL SCIENCES, 2013, 10 (10): : 1422 - 1429Yuan, FangZhao, LanWang, JuanZhang, WeiLi, XinQiu, Xing-BiaoLi, Ruo-GuXu, Ying-JiaXu, LeiQu, Xing-KaiFang, Wei-YiYang, Yi-Qing
- [23] Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystoniaJOURNAL OF CLINICAL INVESTIGATION, 2009, 119 (06): : 1595 - 1603Kurian, Manju A.Zhen, JuanCheng, Shu-YuanLi, YanMordekar, Santosh R.Jardine, PhilipMorgan, Neil V.Meyer, EstherTee, LouisePasha, ShanazWassmer, EvangelineHeales, Simon J. R.Gissen, PaulReith, Maarten E. A.Maher, Eamonn R.
- [24] Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityPLOS GENETICS, 2018, 14 (08):Ta-Shma, AsafHjeij, RimPerles, ZeevDougherty, Gerard W.Abu Zahira, IbrahimLetteboer, Stef J. F.Antony, DinuDarwish, AlaaMans, Dorus A.Spittler, SabrinaEdelbusch, ChristineCindric, SandraNoethe-Menchen, TabeaOlbrich, HeikeStuhlmann, FriederikeAprea, IsabellaPennekamp, PetraLoges, Niki T.Breuer, OdedShaag, AvrahamRein, Azaria J. J. T.Gulec, Elif YilmazGezdirici, AlperAbitbul, RevitalElias, NaelAmirav, IsraelSchmidts, MiriamRoepman, RonaldElpeleg, OrlyOmran, Heymut
- [25] Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type ICLINICAL GENETICS, 2018, 93 (02) : 255 - 265Braunisch, M. C.Gallwitz, H.Abicht, A.Diebold, I.Holinski-Feder, E.Van Maldergem, L.Lammens, M.Kovacs-Nagy, R.Alhaddad, B.Strom, T. M.Meitinger, T.Senderek, J.Rudnik-Schoeneborn, S.Haack, T. B.
- [26] 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.
- [27] A Novel Form of Familial Fibrotic Cardiomyopathy Associated With Homozygous Loss-of-Function SERPINE1 MutationCIRCULATION, 2016, 134Khan, Sadiya S.Shah, Sanjiv J.Klyachko, EkaterinaFlevaris, PanagiotisLee, Daniel C.Cuttica, MichaelCarr, James C.Benefield, Brandon C.Nelson, LaurenHeiman, MeadowGupta, SwetaShapiro, Amy D.Vaughan, Douglas E.
- [28] Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationHUMAN MUTATION, 2015, 36 (05) : 562 - 568Vetro, AnnalisaIascone, MariaLimongelli, IvanAmeziane, NajimGana, SimoneMina, Erika DellaGiussani, UrsulaCiccone, RobertoForlino, AntonellaPezzoli, LauraRooimans, Martin A.van Essen, Antoni J.Messa, JoleRizzuti, TommasoBianchi, PaoloDorsman, Josephinede Winter, Johan P.Lalatta, FaustinaZuffardi, Orsetta
- [29] Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1BLOOD, 2015, 126 (13) : 1527 - 1535Record, JulienMalinova, DessislavaZenner, Helen L.Plagnol, VincentNowak, KarolinSyed, FarhatullahBouma, GerbenCurtis, JamesGilmour, KimberlyCale, CatherineHackett, ScottCharras, GuillaumeMoulding, DaleNejentsev, SergeyThrasher, Adrian J.Burns, Siobhan O.
- [30] 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