Kline AD - Search Results

1

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: kline ad. 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.

2

Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization.

Mewar R, Kline AD, Jackson L, Overhauser J. Mewar R, et al. Among authors: kline ad. Am J Med Genet. 1992 Nov 1;44(4):477-81. doi: 10.1002/ajmg.1320440418. Am J Med Genet. 1992. PMID: 1442891

3

Developmental data on individuals with the Brachmann-de Lange syndrome.

Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. Kline AD, et al. Am J Med Genet. 1993 Nov 15;47(7):1053-8. doi: 10.1002/ajmg.1320470724. Am J Med Genet. 1993. PMID: 7507292

4

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

Mewar R, Kline AD, Harrison W, Rojas K, Greenberg F, Overhauser J. Mewar R, et al. Among authors: kline ad. Am J Hum Genet. 1993 Dec;53(6):1269-78. Am J Hum Genet. 1993. PMID: 8250043 Free PMC article. Review.

5

Growth manifestations in the Brachmann-de Lange syndrome.

Kline AD, Barr M, Jackson LG. Kline AD, et al. Am J Med Genet. 1993 Nov 15;47(7):1042-9. doi: 10.1002/ajmg.1320470722. Am J Med Genet. 1993. PMID: 8291521

6

de Lange syndrome: a clinical review of 310 individuals.

Jackson L, Kline AD, Barr MA, Koch S. Jackson L, et al. Among authors: kline ad. Am J Med Genet. 1993 Nov 15;47(7):940-6. doi: 10.1002/ajmg.1320470703. Am J Med Genet. 1993. PMID: 8291537

7

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Kline AD, et al. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.

8

Variability in a family with an insertion involving 5p.

Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J. Marinescu RC, et al. Among authors: kline ad. Am J Med Genet. 1999 Sep 17;86(3):258-63. Am J Med Genet. 1999. PMID: 10482876

9

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

Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. Gillis LA, et al. Among authors: kline ad. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 Aug 18. Am J Hum Genet. 2004. PMID: 15318302 Free PMC article.

10

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. Kline AD, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1287-96. doi: 10.1002/ajmg.a.31757. Am J Med Genet A. 2007. PMID: 17508425 Review.

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