(Q28285886)

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

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title

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome (English)

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main subject

Cornelia de Lange syndrome

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Zahurul A Bhuiyan

1

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Helen Stewart

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2

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Egbert J Redeker

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3

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Marcel M A M Mannens

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4

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Raoul C M Hennekam

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5

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language of work or name

English

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publication date

April 2007

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published in

European Journal of Human Genetics

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volume

15

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issue

4

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page(s)

505-8

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cites work

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

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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

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene

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stated in

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201776

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7 January 2021

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

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7 January 2021

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Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

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7 January 2021

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 January 2021

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

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7 January 2021

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Phosphoproteome analysis of the human mitotic spindle

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7 January 2021

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Identification of Alu elements mediating a partial PMP22 deletion

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7 January 2021

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Identifiers

DOI

10.1038/SJ.EJHG.5201776

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Dimensions Publication ID

1012026717

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PubMed publication ID

17264868

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ResearchGate publication ID

6539397

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(Q28285886)

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

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