Literature DB >> 4843303

The autosomal recessive form of spondylocostal dysostosis.

P Franceschini, E Grassi, C Fabris, G Bogetti, M Randaccio.   

Abstract

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Year:  1974        PMID： 4843303     DOI： 10.1148/112.3.673

Source DB:  PubMed          Journal:  Radiology        ISSN： 0033-8419            Impact factor:   11.105


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  5 in total

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

Authors:  P D Turnpenny; M P Bulman; T M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; S Ellard
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Authors:  P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

3.  Hereditary costovertebral dysplasia with malignant cerebral tumour.

Authors:  T J David; A Glass
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Congenital spinal deformity in a three generation family.

Authors:  I K Temple; T G Thomas; M Baraitser
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

5.  Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Authors:  P D Turnpenny; R J Thwaites; F N Boulos
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318
  5 in total

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