Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. (Q51864535)

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5 February 2020

title

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome (English)

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2

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Donatella Milani

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author name string

Paola Castronovo

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Anna Cereda

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Maura Masciadri

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Silvia Russo

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Angelo Selicorni

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Lidia Larizza

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publication date

19 August 2009

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volume

17

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issue

6

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page(s)

763-771

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

5 February 2020

cites work

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12 December 2020

On the molecular etiology of Cornelia de Lange syndrome

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12 December 2020

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

1 reference

12 December 2020

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

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12 December 2020

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

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12 December 2020

Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

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12 December 2020

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair

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12 December 2020

Premature sister chromatid separation in HIV-1-infected peripheral blood lymphocytes

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12 December 2020

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

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12 December 2020

Chromosome studies of patients with Alzheimer disease.

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12 December 2020

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

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12 December 2020

Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.

1 reference

12 December 2020

Premature centromere division of the X chromosome in neurons in Alzheimer's disease

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12 December 2020

Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls

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12 December 2020

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

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12 December 2020

Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

1 reference

12 December 2020

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome

1 reference

12 December 2020

Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells

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12 December 2020

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

1 reference

12 December 2020

C-anaphases: a mitotic variant

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12 December 2020

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

1 reference

12 December 2020

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

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12 December 2020

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

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12 December 2020

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Premature centromere division: a possible manifestation of chromosome instability

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12 December 2020

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

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12 December 2020

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

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12 December 2020

Chromosome abnormalities in tuberous sclerosis

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12 December 2020

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

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12 December 2020

A direct link between sister chromatid cohesion and chromosome condensation revealed through the analysis of MCD1 in S. cerevisiae

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12 December 2020

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

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12 December 2020

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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12 December 2020

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

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12 December 2020

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

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12 December 2020

10.1007/S10577-009-9066-6

Identifiers

DOI

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5 February 2020

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