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Items: 1 to 20 of 32

1.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2.

2.

Regulated pre-mRNA splicing: the ghostwriter of the eukaryotic genome.

Johnson TL, Vilardell J.

Biochim Biophys Acta. 2012 Jun;1819(6):538-45. doi: 10.1016/j.bbagrm.2011.12.011. Epub 2012 Jan 9. Review.

3.

Exome sequencing as a tool for Mendelian disease gene discovery.

Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J.

Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031. Review.

PMID:
21946919
4.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.

Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.

5.

Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature.

Schlieve T, Almusa M, Miloro M, Kolokythas A.

J Oral Maxillofac Surg. 2012 Mar;70(3):616-25. doi: 10.1016/j.joms.2011.02.053. Epub 2011 Jul 1. Review. No abstract available.

PMID:
21723020
6.

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C.

Am J Hum Genet. 2011 May 13;88(5):643-9. doi: 10.1016/j.ajhg.2011.04.008. Epub 2011 May 5.

7.

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.

He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A.

Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587.

8.

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.

9.

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Wang K, Li M, Hakonarson H.

Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.

10.

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ.

Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.

11.

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C.

Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.

12.

The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup.

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352. Epub 2009 Jun 8.

13.

Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.

14.

Bone morphogenetic protein signaling in limb outgrowth and patterning.

Robert B.

Dev Growth Differ. 2007 Aug;49(6):455-68. Review.

PMID:
17661740
15.

Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation.

Watanabe H, Shionyu M, Kimura T, Kimata K, Watanabe H.

J Biol Chem. 2007 Jul 13;282(28):20728-38. Epub 2007 May 18.

16.

Signals, pathways and splicing regulation.

Blaustein M, Pelisch F, Srebrow A.

Int J Biochem Cell Biol. 2007;39(11):2031-48. Epub 2007 Apr 8. Review.

PMID:
17507279
17.

Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1.

Isono K, Mizutani-Koseki Y, Komori T, Schmidt-Zachmann MS, Koseki H.

Genes Dev. 2005 Mar 1;19(5):536-41.

18.

Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor.

Nishanian TG, Waldman T.

Biochem Biophys Res Commun. 2004 Oct 8;323(1):91-7.

PMID:
15351706
19.

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.

Kennedy SJ, Teebi AS.

Am J Med Genet A. 2004 Aug 15;129A(1):73-6.

PMID:
15266620
20.

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS.

Mol Cell. 2001 Aug;8(2):375-81.

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