Literature DB >> 4220010

The Roberts syndrome.

M V Freeman, D W Williams, R N Schimke, S A Temtamy, E Vachier, J German.   

Abstract

The Roberts syndrome appears to follow an autosomal recessive mode of inheritance. The cause of the abnormalities probably exerts its effect prior to the seventh week of gestation and only on a few organ systems undergoing development during this time. The peculiar morphologic features of metaphase chromosomes of the one individual who has been studied extensively are unexplained.

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Mesh:

Year:  1974        PMID: 4220010

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  5 in total

1.  The SC phocomelia and the Roberts syndrome: nosologic aspects.

Authors:  J Herrmann; J M Opitz
Journal:  Eur J Pediatr       Date:  1977-06-01       Impact factor: 3.183

2.  Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.

Authors:  E W Jabs; C M Tuck-Muller; R Cusano; J B Rattner
Journal:  Chromosoma       Date:  1991-05       Impact factor: 4.316

3.  Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.

Authors:  N E Krassikoff; J M Cowan; D M Parry; U Francke
Journal:  Am J Hum Genet       Date:  1986-11       Impact factor: 11.025

4.  A dominantly inherited cytogenetic anomaly: a possible cell division mutant.

Authors:  N L Rudd; I E Teshima; R H Martin; J E Sisken; R Weksberg
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.

Authors:  Baoshan Xu; Kenneth K Lee; Lily Zhang; Jennifer L Gerton
Journal:  PLoS Genet       Date:  2013-10-03       Impact factor: 5.917

  5 in total

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