(Q24596109)

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Cornelia de Lange syndrome, cohesin, and beyond

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Cornelia de Lange syndrome, cohesin, and beyond (English)

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Cornelia de Lange syndrome

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J Liu

1

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I D Krantz

2

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publication date

October 2009

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Clinical Genetics

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76

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4

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303-14

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells

1 reference

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24 March 2017

Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

1 reference

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24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Sororin is required for stable binding of cohesin to chromatin and for sister chromatid cohesion in interphase

1 reference

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24 March 2017

Wapl controls the dynamic association of cohesin with chromatin

1 reference

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24 March 2017

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

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

1 reference

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24 March 2017

Rings, bracelet or snaps: fashionable alternatives for Smc complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts

1 reference

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24 March 2017

Shugoshin prevents dissociation of cohesin from centromeres during mitosis in vertebrate cells

1 reference

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24 March 2017

Dissociation of cohesin from chromosome arms and loss of arm cohesion during early mitosis depends on phosphorylation of SA2.

1 reference

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24 March 2017

Genome-wide mapping of the cohesin complex in the yeast Saccharomyces cerevisiae

1 reference

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24 March 2017

The kinetochore is an enhancer of pericentric cohesin binding

1 reference

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24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Molecular architecture of SMC proteins and the yeast cohesin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Establishment and maintenance of sister chromatid cohesion in fission yeast by a unique mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

The cohesin complex: sequence homologies, interaction networks and shared motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Yeast cohesin complex requires a conserved protein, Eco1p(Ctf7), to establish cohesion between sister chromatids during DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

de Lange syndrome: a clinical review of 310 individuals

1 reference

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24 March 2017

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

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24 March 2017

Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold

2 references

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24 March 2017

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01271.X

7 January 2021

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PIASgamma is required for faithful chromosome segregation in human cells

1 reference

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1 reference

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24 March 2017

Eco1-dependent cohesin acetylation during establishment of sister chromatid cohesion

1 reference

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24 March 2017

Kinetochore orientation during meiosis is controlled by Aurora B and the monopolin complex

1 reference

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24 March 2017

DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain

1 reference

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24 March 2017

Identification of protein complexes required for efficient sister chromatid cohesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

An ESP1/PDS1 complex regulates loss of sister chromatid cohesion at the metaphase to anaphase transition in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

1 reference

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24 March 2017

Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies

1 reference

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24 March 2017

The cohesin complex and its roles in chromosome biology

1 reference

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The structure and function of SMC and kleisin complexes

1 reference

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24 March 2017

Structure and stability of cohesin's Smc1-kleisin interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

NBS1 and its functional role in the DNA damage response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

CTCF tethers an insulator to subnuclear sites, suggesting shared insulator mechanisms across species

1 reference

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24 March 2017

Chromosomal cohesin forms a ring

1 reference

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24 March 2017

A chromatin remodelling complex that loads cohesin onto human chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

The dissociation of cohesin from chromosomes in prophase is regulated by Polo-like kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Securin is required for chromosomal stability in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis

1 reference

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24 March 2017

Sister-chromatid separation at anaphase onset is promoted by cleavage of the cohesin subunit Scc1

1 reference

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Pituitary tumor transforming gene (PTTG) expression in pituitary adenomas

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Structure, expression, and function of human pituitary tumor-transforming gene (PTTG)

1 reference

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24 March 2017

The DXS423E gene in Xp11.21 escapes X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

CTCF-dependent chromatin insulator is linked to epigenetic remodeling

1 reference

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24 March 2017

Unzipped and loaded: the role of DNA helicases and RFC clamp-loading complexes in sister chromatid cohesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

24 March 2017

Cohesins functionally associate with CTCF on mammalian chromosome arms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

7 April 2017

Cohesin mediates transcriptional insulation by CCCTC-binding factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

7 April 2017

On the molecular etiology of Cornelia de Lange syndrome

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27 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

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Overexpression of Separase induces aneuploidy and mammary tumorigenesis

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Expression of various types of alternatively spliced WAPL transcripts in human cervical epithelia

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27 September 2017

Cohesin and CTCF: cooperating to control chromosome conformation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

27 September 2017

Sister chromatid cohesion: a simple concept with a complex reality

1 reference

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27 September 2017

Chromosome cohesion - rings, knots, orcs and fellowship.

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The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

1 reference

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Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators

1 reference

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Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

1 reference

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

1 reference

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Fork it over: the cohesion establishment factor Ctf7p and DNA replication

1 reference

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27 September 2017

Natural history of aging in Cornelia de Lange syndrome

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27 September 2017

Sister chromatid cohesion: the cohesin cleavage model does not ring true

1 reference

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27 September 2017

Unscheduled overexpression of human WAPL promotes chromosomal instability

1 reference

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27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

27 September 2017

A multi-step pathway for the establishment of sister chromatid cohesion

1 reference

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27 September 2017

The origin recognition complex functions in sister-chromatid cohesion in Saccharomyces cerevisiae.

1 reference

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27 September 2017

Targeting of cohesin by transcriptionally silent chromatin.

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27 September 2017

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27 September 2017

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1 reference

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27 September 2017

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

1 reference

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27 September 2017

Preferential cleavage of chromatin-bound cohesin after targeted phosphorylation by Polo-like kinase

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27 September 2017

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27 September 2017

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27 September 2017

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

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27 September 2017

Two putative acetyltransferases, san and deco, are required for establishing sister chromatid cohesion in Drosophila

1 reference

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27 September 2017

cis-acting DNA from fission yeast centromeres mediates histone H3 methylation and recruitment of silencing factors and cohesin to an ectopic site

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27 September 2017

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

1 reference

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27 September 2017

Characterization of fission yeast cohesin: essential anaphase proteolysis of Rad21 phosphorylated in the S phase

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27 September 2017

Behavioural phenotype of Cornelia de Lange syndrome

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27 September 2017

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

1 reference

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27 September 2017

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

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27 September 2017

Developmental data on individuals with the Brachmann-de Lange syndrome

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27 September 2017

Loss of ATRX leads to chromosome cohesion and congression defects

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30 May 2018

Cohesin relocation from sites of chromosomal loading to places of convergent transcription

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30 May 2018

Neuropathological analysis of an adult case of the Cornelia de Lange syndrome

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30 May 2018

Auditory brainstem responses in children with Cornelia de Lange syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

30 May 2018

Cornelia de Lange syndrome. Otolaryngologic manifestations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

30 May 2018

The hand profile on de Lange syndrome: diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

30 May 2018

A molecular determinant for the establishment of sister chromatid cohesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Cohesin-dependent regulation of Runx genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Evidence that Loading of Cohesin Onto Chromosomes Involves Opening of Its SMC Hinge

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Ophthalmologic findings in the Cornelia de Lange Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Epithelial re-organization and dynamics of progression through mitosis in Drosophila separase complex mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

ATP hydrolysis is required for cohesin's association with chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

A model for ATP hydrolysis-dependent binding of cohesin to DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Brain dysgenesis in Cornelia de Lange syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2853897

28 November 2018

Thrombocytopenia in the Brachmann-de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth manifestations in the Brachmann-de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical growth in Brachmann-de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brachmann-de Lange syndrome and congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anomalies of the kidney and urinary tract are common in de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct cohesin complexes organize meiotic chromosome domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cornelia de Lange syndrome associated with cecal volvulus: report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19793304

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correction: Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2009.01271.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1111/J.1399-0004.2009.01271.X

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

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