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Year Number of Results
2001 2
2004 3
2005 2
2007 3
2020 0
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Page 1
Natural history of aging in Cornelia de Lange syndrome.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. Kline AD, et al. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):248-60. doi: 10.1002/ajmg.c.30137. Am J Med Genet C Semin Med Genet. 2007. PMID: 17640042 Free PMC article. Review.
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.
DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. DeScipio C, et al. Am J Med Genet A. 2005 Sep 1;137A(3):276-82. doi: 10.1002/ajmg.a.30857. Am J Med Genet A. 2005. PMID: 16075459 Free PMC article. Review.
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T. Tonkin ET, et al. Hum Genet. 2004 Jul;115(2):139-48. doi: 10.1007/s00439-004-1134-6. Epub 2004 May 27. Hum Genet. 2004. PMID: 15168106 Free PMC article.
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.