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Items: 6

1.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A.

Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14.

2.

Expanding the genetic heterogeneity of intellectual disability.

Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.

Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Erratum in: Hum Genet. 2017 Dec 29;:.

PMID:
28940097
3.

PRC2 regulates RNA polymerase III transcribed non-translated RNA gene transcription through EZH2 and SUZ12 interaction with TFIIIC complex.

Liu C, Li S, Dai X, Ma J, Wan J, Jiang H, Wang P, Liu Z, Zhang H.

Nucleic Acids Res. 2015 Jul 27;43(13):6270-84. doi: 10.1093/nar/gkv574. Epub 2015 Jun 1.

4.

Modulation of chromatin modifying factors' gene expression in embryonic and induced pluripotent stem cells.

Luzzani C, Solari C, Losino N, Ariel W, Romorini L, Bluguermann C, Sevlever G, BaraƱao L, Miriuka S, Guberman A.

Biochem Biophys Res Commun. 2011 Jul 15;410(4):816-22. doi: 10.1016/j.bbrc.2011.06.070. Epub 2011 Jun 15.

PMID:
21703227
5.

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, Aboura A.

Am J Med Genet A. 2010 Jan;152A(1):111-7. doi: 10.1002/ajmg.a.33164.

PMID:
20034071
6.

Death effector domain-containing proteins DEDD and FLAME-3 form nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC.

Zhan Y, Hegde R, Srinivasula SM, Fernandes-Alnemri T, Alnemri ES.

Cell Death Differ. 2002 Apr;9(4):439-47.

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