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Journal Abstract Search

180 related items for PubMed ID: 21371013

  • 1. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
    Suphapeetiporn K, Srichomthong C, Shotelersuk V.
    Clin Genet; 2011 Apr; 79(4):391-3. PubMed ID: 21371013
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  • 2. 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; 48(2):117-22. PubMed ID: 21037274
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  • 3. 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
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  • 4. 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; 30(7):932-6. PubMed ID: 25028416
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  • 5. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
    Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM.
    Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
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  • 9. 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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  • 11. 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 30; 58(9):479-87. PubMed ID: 26188272
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  • 13. 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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  • 16. 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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  • 17. 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
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  • 19. 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 06; 42(6):483-5. PubMed ID: 20436468
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  • 20. Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
    Watanabe S, Murayama A, Haginoya K, Tanaka S, Togashi N, Abukawa D, Sato A, Imaizumi M, Yoshikawa H, Takayama R, Wakusawa K, Kobayashi S, Sato I, Onuma A.
    Brain Dev; 2012 Feb 06; 34(2):151-5. PubMed ID: 21507589
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