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Items: 1 to 20 of 43

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.

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.

3.

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
4.

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.

5.

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

Day R, Fryer A.

Clin Dysmorphol. 2003 Oct;12(4):277-8.

PMID:
14564219
6.

Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.

Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E.

Am J Med Genet A. 2003 Jul 15;120A(2):241-6. Review.

PMID:
12833407
7.

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
9.

Notch signaling and inherited disease syndromes.

Gridley T.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R9-13. Review.

PMID:
12668592
10.

When body segmentation goes wrong.

Pourquié O, Kusumi K.

Clin Genet. 2001 Dec;60(6):409-16. Review.

PMID:
11846732
11.
12.

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
13.

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.

14.

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries.

Kusumi K, Sun ES, Kerrebrock AW, Bronson RT, Chi DC, Bulotsky MS, Spencer JB, Birren BW, Frankel WN, Lander ES.

Nat Genet. 1998 Jul;19(3):274-8.

PMID:
9662403
15.
16.

Skeletal and CNS defects in Presenilin-1-deficient mice.

Shen J, Bronson RT, Chen DF, Xia W, Selkoe DJ, Tonegawa S.

Cell. 1997 May 16;89(4):629-39.

17.

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm.

Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJ, Trumbauer ME, Chen HY, Price DL, Van der Ploeg LH, Sisodia SS.

Nature. 1997 May 15;387(6630):288-92.

PMID:
9153393
18.

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.

Mortier GR, Lachman RS, Bocian M, Rimoin DL.

Am J Med Genet. 1996 Feb 2;61(4):310-9. Review.

PMID:
8834041
19.

The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.

Aurora P, Wallis CE, Winter RM.

Clin Dysmorphol. 1996 Apr;5(2):165-9. No abstract available.

PMID:
8723567
20.

Jarcho-Levin syndrome: unusual survival in a classical case.

McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB.

Am J Med Genet. 1994 Feb 1;49(3):328-32.

PMID:
8209895

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