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2. Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization. Gori I; George R; Purkiss AG; Strohbuecker S; Randall RA; Ogrodowicz R; Carmignac V; Faivre L; Joshi D; Kjær S; Hill CS Elife; 2021 Jan; 10():. PubMed ID: 33416497 [TBL] [Abstract][Full Text] [Related]
3. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Verstraeten A; Alaerts M; Van Laer L; Loeys B Hum Mutat; 2016 Jun; 37(6):524-31. PubMed ID: 26919284 [TBL] [Abstract][Full Text] [Related]
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5. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Schepers D; Doyle AJ; Oswald G; Sparks E; Myers L; Willems PJ; Mansour S; Simpson MA; Frysira H; Maat-Kievit A; Van Minkelen R; Hoogeboom JM; Mortier GR; Titheradge H; Brueton L; Starr L; Stark Z; Ockeloen C; Lourenco CM; Blair E; Hobson E; Hurst J; Maystadt I; Destrée A; Girisha KM; Miller M; Dietz HC; Loeys B; Van Laer L Eur J Hum Genet; 2015 Feb; 23(2):224-8. PubMed ID: 24736733 [TBL] [Abstract][Full Text] [Related]
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7. TGF-β signalopathies as a paradigm for translational medicine. Cannaerts E; van de Beek G; Verstraeten A; Van Laer L; Loeys B Eur J Med Genet; 2015 Dec; 58(12):695-703. PubMed ID: 26598797 [TBL] [Abstract][Full Text] [Related]
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10. A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. Zhang L; Xu X; Sun K; Sun J; Wang Y; Liu Y; Yang N; Tao C; Cai B; Shi G; Zhang F; Shi J Am J Med Genet A; 2019 Jun; 179(6):936-939. PubMed ID: 30883014 [TBL] [Abstract][Full Text] [Related]
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14. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Lindsay ME; Schepers D; Bolar NA; Doyle JJ; Gallo E; Fert-Bober J; Kempers MJ; Fishman EK; Chen Y; Myers L; Bjeda D; Oswald G; Elias AF; Levy HP; Anderlid BM; Yang MH; Bongers EM; Timmermans J; Braverman AC; Canham N; Mortier GR; Brunner HG; Byers PH; Van Eyk J; Van Laer L; Dietz HC; Loeys BL Nat Genet; 2012 Jul; 44(8):922-7. PubMed ID: 22772368 [TBL] [Abstract][Full Text] [Related]
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19. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463 [TBL] [Abstract][Full Text] [Related]
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