Literature DB >> 13950852

[Polydysspondylic syndrome due to 14-15 translocation and dyschondrosteosis in the same subject. Familial segregation].

J C MLYNARSKI, P MAROTEAUX, G DESHAIES, C BENICHOU, C SALMON.   

Abstract

Entities:  

Keywords:  CHROMOSOMES; DYSCHONDROPLASIA; SPINAL DISEASES

Mesh：

Year:  1963        PMID： 13950852

Source DB:  PubMed          Journal:  C R Hebd Seances Acad Sci        ISSN： 0001-4036


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  11 in total

1.  Translocations of D chromosomes in two families: t(13q14q) and t(13q14q)+(13p14p).

Authors:  C G Palmer; P M Conneally; J C Christian
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

2.  A family with D-D translocation.

Authors:  E Krmpotic; K Ramanathan; A Grossman
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

3.  Di Guglielmo syndrome in a t(DgDg) heterozygote.

Authors:  B Dallapiccola; P Malacarne
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

4.  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

5.  Transmission of a D/D reciprocal translocation in a family with high incidence of mental retardation.

Authors:  A S Dekaban
Journal:  Am J Hum Genet       Date:  1966-05       Impact factor: 11.025

6.  [An isolated case of dyschondrosteosis].

Authors:  P Dodinaval; M Collard
Journal:  Humangenetik       Date:  1965

7.  [Another case of dyschondrosteosis (Léri-Weill)].

Authors:  P E Becker
Journal:  Humangenetik       Date:  1965

8.  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

9.  Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity.

Authors:  E A Devos; J G Leroy; J J Braeckman; L J Vanden Bulcke; L O Langer
Journal:  Eur J Pediatr       Date:  1978-05-22       Impact factor: 3.183

10.  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
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