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Journal Abstract Search

215 related items for PubMed ID: 32445275

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.
    Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
    [Abstract] [Full Text] [Related]

  • 3. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
    Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW.
    PLoS Genet; 2017 Mar; 13(3):e1006683. PubMed ID: 28346496
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 27; 97(1):35-46. PubMed ID: 29666323
    [Abstract] [Full Text] [Related]

  • 7. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul 27; 21(3):152-154. PubMed ID: 22473152
    [No Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. [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 27; 82(1):e12-6. PubMed ID: 25082129
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 06; 167A(5):1039-46. PubMed ID: 25663181
    [Abstract] [Full Text] [Related]

  • 12. West syndrome in a patient with Schinzel-Giedion syndrome.
    Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K.
    J Child Neurol; 2015 Jun 06; 30(7):932-6. PubMed ID: 25028416
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. [Unusual facies with delayed development and multiple malformations in a 14-month-old boy].
    Lu T, Wang Y.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Aug 30; 19(8):921-925. PubMed ID: 28774369
    [Abstract] [Full Text] [Related]

  • 15. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
    Suphapeetiporn K, Srichomthong C, Shotelersuk V.
    Clin Genet; 2011 Apr 30; 79(4):391-3. PubMed ID: 21371013
    [No Abstract] [Full Text] [Related]

  • 16. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
    Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
    J Med Genet; 2011 Feb 30; 48(2):117-22. PubMed ID: 21037274
    [Abstract] [Full Text] [Related]

  • 17. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
    Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA.
    Nat Genet; 2010 Jun 30; 42(6):483-5. PubMed ID: 20436468
    [Abstract] [Full Text] [Related]

  • 18. SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
    Piazza R, Magistroni V, Redaelli S, Mauri M, Massimino L, Sessa A, Peronaci M, Lalowski M, Soliymani R, Mezzatesta C, Pirola A, Banfi F, Rubio A, Rea D, Stagno F, Usala E, Martino B, Campiotti L, Merli M, Passamonti F, Onida F, Morotti A, Pavesi F, Bregni M, Broccoli V, Baumann M, Gambacorti-Passerini C.
    Nat Commun; 2018 Jun 06; 9(1):2192. PubMed ID: 29875417
    [Abstract] [Full Text] [Related]

  • 19.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Duis J, van Bon BWM.
    ; 1993 Jun 06. PubMed ID: 38452171
    [Abstract] [Full Text] [Related]

  • 20. Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice.
    Whitlock JH, Soelter TM, Howton TC, Wilk EJ, Oza VH, Lasseigne BN.
    J Cell Mol Med; 2023 Nov 06; 27(22):3565-3577. PubMed ID: 37872881
    [Abstract] [Full Text] [Related]

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