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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 1
1982 2
1990 1
1991 1
1993 2
1994 3
1995 2
1996 1
1997 1
1998 1
1999 2
2001 1
2002 1
2003 1
2007 1
2008 1
2010 2
2011 2
2012 3
2013 3
2014 1
2024 0

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PubMed (OMIM) for id: 26040

32 results

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Page 1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Somatic SETBP1 mutations in myeloid malignancies.
Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, Nagata Y, Guinta K, Mori H, Sekeres MA, Chiba K, Tanaka H, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP. Makishima H, et al. Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832012 Free PMC article.
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, Doisaki S, Hama A, Nakanishi K, Takahashi Y, Yoshida N, Maciejewski JP, Miyano S, Ogawa S, Kojima S. Sakaguchi H, et al. Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832011
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, Rossi F, Gaipa G, De Martini GP, di Celle PF, Jang HG, Fantin V, Bignell GR, Magistroni V, Haferlach T, Pogliani EM, Campbell PJ, Chase AJ, Tapper WJ, Cross NC, Gambacorti-Passerini C. Piazza R, et al. Nat Genet. 2013 Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222956 Free PMC article.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937
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. Hoischen A, et al. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468
32 results