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Journal Abstract Search

184 related items for PubMed ID: 22473152

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  • 3. Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
    Liu WL, He ZX, Li F, Ai R, Ma HW.
    J Genet; 2018 Mar; 97(1):35-46. PubMed ID: 29666323
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  • 4. A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
    Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V.
    Am J Med Genet A; 2020 Aug; 182(8):1947-1951. PubMed ID: 32445275
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  • 6. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
    Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N.
    Ital J Pediatr; 2020 May 27; 46(1):74. PubMed ID: 32460883
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  • 7. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
    Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH.
    Childs Nerv Syst; 2013 Apr 27; 29(4):525-9. PubMed ID: 23400866
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  • 8. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
    Suphapeetiporn K, Srichomthong C, Shotelersuk V.
    Clin Genet; 2011 Apr 27; 79(4):391-3. PubMed ID: 21371013
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  • 10. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
    Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H.
    Eur J Med Genet; 2015 Sep 27; 58(9):479-87. PubMed ID: 26188272
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  • 12. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
    Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D.
    Am J Med Genet A; 2015 May 27; 167A(5):1039-46. PubMed ID: 25663181
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  • 13. SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
    Banfi F, Rubio A, Zaghi M, Massimino L, Fagnocchi G, Bellini E, Luoni M, Cancellieri C, Bagliani A, Di Resta C, Maffezzini C, Ianielli A, Ferrari M, Piazza R, Mologni L, Broccoli V, Sessa A.
    Nat Commun; 2021 Jun 30; 12(1):4050. PubMed ID: 34193871
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  • 14. [Schinzel-Giedion syndrome: a new mutation in SETBP1].
    López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E.
    An Pediatr (Barc); 2015 Jan 30; 82(1):e12-6. PubMed ID: 25082129
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  • 16. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
    Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
    BMC Med Genet; 2016 Jun 10; 17(1):42. PubMed ID: 27282200
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  • 20. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
    Zheng J, Gu M, Xiao S, Li C, Mi H, Xu X.
    BMC Pediatr; 2024 May 06; 24(1):309. PubMed ID: 38711130
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