Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome (Q24315062)

mitotic sister chromatid cohesion

GOA release 2020-03-11

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Cornelia de Lange syndrome

GOA release 2020-03-11

1 reference

5

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author name string

Maninder Kaur

1

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Cheryl DeScipio

2

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Jennifer McCallum

3

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Dinah Yaeger

4

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Laird G Jackson

6

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Nancy B Spinner

7

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Ian D Krantz

American Journal of Medical Genetics Part A

8

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language of work or name

English

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publication date

15 September 2005

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published in

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

volume

138

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issue

1

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page(s)

27-31

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

de Lange syndrome: a clinical review of 310 individuals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Splitting the chromosome: cutting the ties that bind sister chromatids

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Condensin and cohesin: more than chromosome compactor and glue

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Splitting the chromosome: cutting the ties that bind sister chromatids.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Analysis of premature centromere division (PCD) of the X chromosome in Alzheimer patients through the cell cycle.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Cornelia de Lange syndrome--photo essay.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Chromosome studies of patients with Alzheimer disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2766539

Chromosome abnormalities in tuberous sclerosis

29 November 2018

1 reference

12 December 2020

C-anaphases: a mitotic variant

1 reference

12 December 2020

Premature centromere division: a possible manifestation of chromosome instability

1 reference

12 December 2020

Premature centromere division in three unrelated families

1 reference

12 December 2020

Premature separation of centromere and aneuploidy: an indicator of high risk in unaffected individuals from familial breast cancer families?

1 reference

12 December 2020

The frequency of induced premature centromere division in human populations occupationally exposed to genotoxic chemicals

1 reference

12 December 2020

Association of nonsyndromic Wilms tumor with premature centromere division (PCD)

1 reference

12 December 2020

Prenatal diagnosis of a rare chromosomal instability syndrome: variegated aneuploidy related to premature centromere division (PCD)

1 reference

12 December 2020

Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait

1 reference

12 December 2020

Premature chromatid separation (PCS) vs. premature centromere division (PCD)

1 reference

12 December 2020