(Q24338354)

17

0 references

Raoul Hennekam

16

object named as

Raoul Hennekam

0 references

Jolanta Wierzba

18

object named as

Jolanta Wierzba

0 references

Janusz Limon

9

object named as

Janusz Limon

0 references

author name string

Diana Braunholz

1

0 references

Melanie Hullings

2

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María Concepcion Gil-Rodríguez

3

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Christopher T Fincher

4

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Mark B Mallozzi

5

0 references

Elizabeth Loy

6

0 references

Melanie Albrecht

7

0 references

Maninder Kaur

8

0 references

Abhinav Rampuria

10

0 references

Dinah Clark

11

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Antonie Kline

12

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Andreas Dalski

13

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Juliane Eckhold

14

0 references

Ian D Krantz

19

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Matthew A Deardorff

20

0 references

Frank J Kaiser

European Journal of Human Genetics

21

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language of work or name

English

0 references

publication date

March 2012

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published in

0 references

volume

20

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page(s)

271-6

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issue

3

0 references

cites work

Mediator and cohesin connect gene expression and chromatin architecture

1 reference

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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

19 March 2017

1 reference

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Cohesinopathy mutations disrupt the subnuclear organization of chromatin

19 March 2017

1 reference

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Transcriptional dysregulation in NIPBL and cohesin mutant human cells

19 March 2017

1 reference

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The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance

19 March 2017

1 reference

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Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression

19 March 2017

1 reference

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Precocious sister chromatid separation (PSCS) 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=3283175

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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=3283175

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of 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=3283175

Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

19 March 2017

1 reference

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

19 March 2017

1 reference

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Cohesin, gene expression and development: lessons from Drosophila

19 March 2017

1 reference

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Cohesin: its roles and mechanisms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Cohesin mediates transcriptional insulation by CCCTC-binding factor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Dosage-sensitive regulation of cohesin chromosome binding and dynamics by Nipped-B, Pds5, and Wapl

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

The Scc2/Scc4 cohesin loader determines the distribution of cohesin on budding yeast chromosomes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

On the molecular etiology of Cornelia de Lange syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

SMC1 involvement in fragile site expression.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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=3283175

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Developmental data on individuals with the Brachmann-de Lange syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Cdc7-Drf1 kinase links chromosome cohesion to the initiation of DNA replication in Xenopus egg extracts.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283175

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Scc2 couples replication licensing to sister chromatid cohesion in Xenopus egg extracts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Cohesin-dependent regulation of Runx genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.175