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Results: 5

1.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H.

Eur J Hum Genet. 2014 Aug 20. doi: 10.1038/ejhg.2014.165. [Epub ahead of print]

PMID:
25138099
[PubMed - as supplied by publisher]
2.

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP.

Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12.

PMID:
23665959
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma.

Hakimi AA, Chen YB, Wren J, Gonen M, Abdel-Wahab O, Heguy A, Liu H, Takeda S, Tickoo SK, Reuter VE, Voss MH, Motzer RJ, Coleman JA, Cheng EH, Russo P, Hsieh JJ.

Eur Urol. 2013 May;63(5):848-54. doi: 10.1016/j.eururo.2012.09.005. Epub 2012 Sep 27.

PMID:
23036577
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutations and epimutations in the origin of cancer.

Peltomäki P.

Exp Cell Res. 2012 Feb 15;318(4):299-310. doi: 10.1016/j.yexcr.2011.12.001. Epub 2011 Dec 13. Review.

PMID:
22182599
[PubMed - indexed for MEDLINE]
5.

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA.

Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351.

PMID:
21796119
[PubMed - indexed for MEDLINE]
Free PMC Article

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