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

Krantz, Ian D, McCallum, Jennifer, DeScipio, Cheryl, Kaur, Maninder, Gillis, Lynette A, Yaeger, Dinah, Jukofsky, Lori, Wasserman, Nora +13 more·2004·Nature Genetics
DOI 10.1038/ng1364

Cited by (712)

Items 301–400 of 712

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  2. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
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  3. Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome
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  6. Variations in sister chromatid cohesion dysfunction in esco2 mutant zebrafish reflects the phenotypic diversity of Roberts Syndrome
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  10. Neural crest cell‐specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects
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  11. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
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  14. Cohesin and related coiled-coil domain-containing complexes physically and functionally connect the dots across the genome
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  15. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
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  16. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome
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  25. SMC complexes link gene expression and genome architecture
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  26. Cornelia de Lange syndrome: Extending the physical and psychological phenotype
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  28. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
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  42. Expression of cohesin and condensin genes during zebrafish development supports a non-proliferative role for cohesin
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  48. Cornelia De Lange Syndrome
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  53. Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
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