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Journal Abstract Search

247 related items for PubMed ID: 34193871

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  • 5. 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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  • 6. 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; 58(9):479-87. PubMed ID: 26188272
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  • 8. [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; 82(1):e12-6. PubMed ID: 25082129
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  • 9. 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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  • 10. 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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  • 15. 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 27; 48(2):117-22. PubMed ID: 21037274
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  • 16. 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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  • 17. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
    Villani A, Greer MC, Kalish JM, Nakagawara A, Nathanson KL, Pajtler KW, Pfister SM, Walsh MF, Wasserman JD, Zelley K, Kratz CP.
    Clin Cancer Res; 2017 Jun 15; 23(12):e83-e90. PubMed ID: 28620009
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  • 18. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
    Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM.
    Hum Genet; 2021 Jun 15; 140(6):879-884. PubMed ID: 33386993
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  • 19. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
    Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K.
    Eur J Hum Genet; 2021 Sep 15; 29(9):1384-1395. PubMed ID: 33594261
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  • 20. The impact of SETBP1 mutations in neurological diseases and cancer.
    Kohyanagi N, Ohama T.
    Genes Cells; 2023 Sep 15; 28(9):629-641. PubMed ID: 37489294
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