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Items: 1 to 20 of 104

1.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471.

PMID:
20503311
2.

Mutated MESP2 causes spondylocostal dysostosis in humans.

Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD.

Am J Hum Genet. 2004 Jun;74(6):1249-54. Epub 2004 Apr 30.

3.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL.

Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20.

4.

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.

Nat Genet. 2000 Apr;24(4):438-41.

PMID:
10742114
5.

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.

Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.

Clin Genet. 2004 Jul;66(1):67-72.

PMID:
15200511
6.

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
8.

Defective somitogenesis and abnormal vertebral segmentation in man.

Turnpenny PD.

Adv Exp Med Biol. 2008;638:164-89. Review.

PMID:
21038776
9.

Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes.

Kusumi K, Mimoto MS, Covello KL, Beddington RS, Krumlauf R, Dunwoodie SL.

Genesis. 2004 Jun;39(2):115-21.

PMID:
15170697
10.

Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM.

PLoS One. 2015 Feb 6;10(2):e0117055. doi: 10.1371/journal.pone.0117055. eCollection 2015.

11.

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL.

Am J Hum Genet. 2006 Jan;78(1):28-37. Epub 2005 Nov 16.

12.

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

Bonafé L, Giunta C, Gassner M, Steinmann B, Superti-Furga A.

Clin Genet. 2003 Jul;64(1):28-35.

PMID:
12791036
13.

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Whittock NV, Turnpenny PD, Tuerlings J, Ellard S.

Prenat Diagn. 2003 Jul;23(7):575-9.

PMID:
12868087
14.

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.

Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, Amor DJ.

Am J Med Genet A. 2008 Aug 1;146A(15):1972-6. doi: 10.1002/ajmg.a.32299.

PMID:
18627039
15.

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, Turnpenny PD, Dunwoodie SL.

Am J Med Genet A. 2013 Sep;161A(9):2244-9. doi: 10.1002/ajmg.a.36073. Epub 2013 Jul 29.

PMID:
23897666
16.

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL.

Hum Mol Genet. 2015 Mar 1;24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24.

PMID:
25343988
17.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.

Am J Hum Genet. 1999 Jul;65(1):175-82.

18.

[Spondylocostal dysostosis: a rare genetic disease].

Beine O, Bolland J, Verloes A, Lebrun FR, Khamis J, Muller Ch.

Rev Med Liege. 2004 Sep;59(9):513-6. Review. French.

PMID:
15562550
19.

Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis.

Makino Y, Takahashi Y, Tanabe R, Tamamura Y, Watanabe T, Haraikawa M, Hamagaki M, Hata K, Kanno J, Yoneda T, Saga Y, Goseki-Sone M, Kaneko K, Yamaguchi A, Iimura T.

Bone. 2013 Mar;53(1):248-58. doi: 10.1016/j.bone.2012.11.033. Epub 2012 Dec 11.

PMID:
23238123
20.

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL.

Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17.

PMID:
23335591

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