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Results: 1 to 20 of 25

1.

Oscillatory gene expression and somitogenesis.

Kageyama R, Niwa Y, Isomura A, González A, Harima Y.

Wiley Interdiscip Rev Dev Biol. 2012 Sep-Oct;1(5):629-41. doi: 10.1002/wdev.46. Epub 2012 Mar 22. Review.

PMID:
23799565
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?

Phadke SR, Ranganath P, Boggula VR, Gupta D, Phadke RV, Sloman M, Turnpenny PD.

Am J Med Genet A. 2012 Dec;158A(12):3065-70. doi: 10.1002/ajmg.a.35607. Epub 2012 Nov 19.

PMID:
23166036
[PubMed - indexed for MEDLINE]
4.

Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.

Qiu XS, Zhou S, Jiang H, Ji ML, Ding Q, Lv F, Liu Z, Tang N, Cheng JC, Qiu Y.

Stud Health Technol Inform. 2012;176:52-5.

PMID:
22744456
[PubMed - indexed for MEDLINE]
5.

The mechanism of somite formation in mice.

Saga Y.

Curr Opin Genet Dev. 2012 Aug;22(4):331-8. doi: 10.1016/j.gde.2012.05.004. Epub 2012 Jun 27. Review.

PMID:
22742849
[PubMed - indexed for MEDLINE]
6.

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.

George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ.

Am J Med Genet A. 2012 Aug;158A(8):1971-6. doi: 10.1002/ajmg.a.35428. Epub 2012 Jun 18.

PMID:
22711292
[PubMed - indexed for MEDLINE]
7.

Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation.

Ranes M, Carlan SJ, Perez J, Attia S.

Prenat Diagn. 2012 Jun;32(6):604-6. doi: 10.1002/pd.3874. Epub 2012 May 4. No abstract available.

PMID:
22565932
[PubMed - indexed for MEDLINE]
8.

A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O'Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, McGregor L, Kageyama R, Kusumi K, Dunwoodie SL.

Cell. 2012 Apr 13;149(2):295-306. doi: 10.1016/j.cell.2012.02.054. Epub 2012 Apr 5.

PMID:
22484060
[PubMed - indexed for MEDLINE]
9.

Identification of genes for bone mineral density variation by computational disease gene identification strategy.

Li GH, Deng HW, Kung AW, Huang QY.

J Bone Miner Metab. 2011 Nov;29(6):709-16. doi: 10.1007/s00774-011-0271-y. Epub 2011 Jun 3.

PMID:
21638018
[PubMed - indexed for MEDLINE]
10.

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).

Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, Seimon LP, Cowles RA.

Pediatr Radiol. 2011 Mar;41(3):384-8. doi: 10.1007/s00247-010-1928-8. Epub 2010 Dec 22.

PMID:
21174082
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
20087400
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
Free Article
15.

T-box protein Tbx18 interacts with the paired box protein Pax3 in the development of the paraxial mesoderm.

Farin HF, Mansouri A, Petry M, Kispert A.

J Biol Chem. 2008 Sep 12;283(37):25372-80. doi: 10.1074/jbc.M802723200. Epub 2008 Jul 21.

PMID:
18644785
[PubMed - indexed for MEDLINE]
Free Article
16.

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
[PubMed - indexed for MEDLINE]
17.

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O.

Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15.

PMID:
18485326
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Defective somitogenesis and abnormal vertebral segmentation in man.

Turnpenny PD.

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

PMID:
21038776
[PubMed - indexed for MEDLINE]
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.

PMID:
17497699
[PubMed - indexed for MEDLINE]
Free Article
20.

Sharp developmental thresholds defined through bistability by antagonistic gradients of retinoic acid and FGF signaling.

Goldbeter A, Gonze D, Pourquié O.

Dev Dyn. 2007 Jun;236(6):1495-508.

PMID:
17497689
[PubMed - indexed for MEDLINE]
Free Article

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