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Items: 1 to 20 of 33

1.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D.

Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Erratum in: Am J Hum Genet. 2010 Oct 8;87(4):572-3.

2.

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

3.

Extracellular BMP-antagonist regulation in development and disease: tied up in knots.

Walsh DW, Godson C, Brazil DP, Martin F.

Trends Cell Biol. 2010 May;20(5):244-56. doi: 10.1016/j.tcb.2010.01.008. Epub 2010 Feb 24. Review.

PMID:
20188563
4.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB.

Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18.

5.

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF.

BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646.

6.

Cv2, functioning as a pro-BMP factor via twisted gastrulation, is required for early development of nephron precursors.

Ikeya M, Fukushima K, Kawada M, Onishi S, Furuta Y, Yonemura S, Kitamura T, Nosaka T, Sasai Y.

Dev Biol. 2010 Jan 15;337(2):405-14. doi: 10.1016/j.ydbio.2009.11.013. Epub 2009 Nov 13.

7.

Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES).

Shtir CJ, Marjoram P, Azen S, Conti DV, Le Marchand L, Haiman CA, Varma R.

BMC Genet. 2009 Nov 10;10:71. doi: 10.1186/1471-2156-10-71.

8.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.

9.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

10.

Mutations in PYCR1 cause cutis laxa with progeroid features.

Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.

Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2.

PMID:
19648921
11.

The role of Notch in patterning the human vertebral column.

Dunwoodie SL.

Curr Opin Genet Dev. 2009 Aug;19(4):329-37. doi: 10.1016/j.gde.2009.06.005. Epub 2009 Jul 14. Review.

PMID:
19608404
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.

A concentration-dependent endocytic trap and sink mechanism converts Bmper from an activator to an inhibitor of Bmp signaling.

Kelley R, Ren R, Pi X, Wu Y, Moreno I, Willis M, Moser M, Ross M, Podkowa M, Attisano L, Patterson C.

J Cell Biol. 2009 Feb 23;184(4):597-609. doi: 10.1083/jcb.200808064. Epub 2009 Feb 16.

14.

Global distribution of genomic diversity underscores rich complex history of continental human populations.

Auton A, Bryc K, Boyko AR, Lohmueller KE, Novembre J, Reynolds A, Indap A, Wright MH, Degenhardt JD, Gutenkunst RN, King KS, Nelson MR, Bustamante CD.

Genome Res. 2009 May;19(5):795-803. doi: 10.1101/gr.088898.108. Epub 2009 Feb 13.

15.

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D.

Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24.

16.

Development of the vertebral morphogenetic field in the mouse: interactions between Crossveinless-2 and Twisted Gastrulation.

Zakin L, Metzinger CA, Chang EY, Coffinier C, De Robertis EM.

Dev Biol. 2008 Nov 1;323(1):6-18. doi: 10.1016/j.ydbio.2008.08.019. Epub 2008 Aug 29.

17.

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL.

Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5.

PMID:
18775957
18.

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.

PMID:
17764081
19.

Abnormal vertebral segmentation and the notch signaling pathway in man.

Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S.

Dev Dyn. 2007 Jun;236(6):1456-74. Review.

20.

von Willebrand factor type C domain-containing proteins regulate bone morphogenetic protein signaling through different recognition mechanisms.

Zhang JL, Huang Y, Qiu LY, Nickel J, Sebald W.

J Biol Chem. 2007 Jul 6;282(27):20002-14. Epub 2007 May 4.

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