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Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
Oliver C, Groves L, Hansen BD, Salehi M, Kheradmand S, Carrico CS, Caudill P, Mattingly M, Dorsett D, Chea S, Singh VP, Krantz ID, Huisman S, Deardorff MA, Kline AD. Oliver C, et al. Among authors: krantz id. Am J Med Genet A. 2022 Mar;188(3):1005-1014. doi: 10.1002/ajmg.a.62591. Epub 2021 Dec 7. Am J Med Genet A. 2022. PMID: 34877788
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. Among authors: krantz id. 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.
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. Among authors: krantz id. 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.
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.
266 results