NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation (Q36567024)

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20 January 2020

title

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation (English)

1 reference

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Cornelia de Lange syndrome

20 January 2020

main subject

1 reference

genotype-phenotype correlation

inferred from title

1 reference

inferred from title

author

Claudia Gonzaga-Jauregui

4

1 reference

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20 January 2020

Davut Pehlivan

1

1 reference

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20 January 2020

Dorothy E Loy

5

1 reference

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20 January 2020

9

James R Lupski

1 reference

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20 January 2020

author name string

Melanie Hullings

2

1 reference

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20 January 2020

Claudia M B Carvalho

3

1 reference

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20 January 2020

Laird G Jackson

6

1 reference

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20 January 2020

Ian D Krantz

7

1 reference

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20 January 2020

Matthew A Deardorff

8

1 reference

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20 January 2020

language of work or name

English

0 references

publication date

5 January 2012

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20 January 2020

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20 January 2020

volume

14

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20 January 2020

issue

3

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20 January 2020

page(s)

313-322

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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

20 January 2020

cites work

1 reference

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

30 September 2017

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Genome-wide DNA methylation analysis in cohesin mutant human cell lines

30 September 2017

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Structural variation in the human genome and its role in disease

30 September 2017

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

30 September 2017

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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome

30 September 2017

1 reference

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Copy number variation in human health, disease, and evolution

30 September 2017

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Mechanisms of change in gene copy number

30 September 2017

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Genomic disorders ten years on.

30 September 2017

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

30 September 2017

1 reference

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

30 September 2017

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On the molecular etiology of Cornelia de Lange syndrome

30 September 2017

1 reference

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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

30 September 2017

1 reference

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

30 September 2017

1 reference

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

30 September 2017

1 reference

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Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556738

Global variation in copy number in the human genome

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556738

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556738

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

30 September 2017

1 reference

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de Lange syndrome: a clinical review of 310 individuals

30 September 2017

1 reference

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

30 September 2017

1 reference

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 September 2018

1 reference

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Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2011.13

Growth manifestations in the Brachmann-de Lange syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22241092

12 December 2020

inferred from PubMed ID database lookup

Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22241092

12 December 2020

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22241092

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/GIM.2011.13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22241092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

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20 January 2020

PubMed publication ID

22241092

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22241092%20AND%20SRC:MED&resulttype=core&format=json