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Literature DB >> 527250

Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

Abstract

In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their contours. The observed abnormalities are interpreted as evidence for the presence of a genetically determined disturbance affecting the normal mechanisms for pairing and disjoining of sister chromatids.

Entities: Disease

Mesh：

Year: 1979 PMID： 527250 DOI： 10.1111/j.1399-0004.1979.tb01354.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Cited

36 in total

1. Replication timing of homologous alpha-satellite DNA in Roberts syndrome.

Authors: A C Barbosa; P A Otto; A M Vianna-Morgante
Journal: Chromosome Res Date: 2000 Impact factor: 5.239

Review 2. Sister acts: coordinating DNA replication and cohesion establishment.

Authors: Rebecca Sherwood; Tatsuro S Takahashi; Prasad V Jallepalli
Journal: Genes Dev Date: 2010-12-15 Impact factor: 11.361

3. Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

Authors: H Rivera; O Zuffardi; P Maraschio; A Caiulo; C Anichini; R Scarinci; R Vivarelli
Journal: J Med Genet Date: 1989-10 Impact factor: 6.318

Review 4. How cohesin and CTCF cooperate in regulating gene expression.

Authors: Kerstin S Wendt; Jan-Michael Peters
Journal: Chromosome Res Date: 2009-03-24 Impact factor: 5.239

Review 5. Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code".

Authors: P Vogt
Journal: Hum Genet Date: 1990-03 Impact factor: 4.132

10. 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

Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

1. Replication timing of homologous alpha-satellite DNA in Roberts syndrome.

Review 2. Sister acts: coordinating DNA replication and cohesion establishment.

3. Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.

Review 4. How cohesin and CTCF cooperate in regulating gene expression.

Review 5. Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code".

6. Mitotic disturbance associated with mosaic aneuploidies.

7. Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Review 8. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.

9. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

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