Jackson L - Search Results

1

de Lange syndrome: a clinical review of 310 individuals.

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

2

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. 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.

3

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.

4

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. Rohatgi S, et al. Am J Med Genet A. 2010 Jul;152A(7):1641-53. doi: 10.1002/ajmg.a.33441. Am J Med Genet A. 2010. PMID: 20583156 Free PMC article.

5

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. Schrier SA, et al. Among authors: jackson lg. Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8. Am J Med Genet A. 2011. PMID: 22069164 Free PMC article. Review.

6

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: jackson l. Am J Med Genet. 1992 Nov 1;44(4):477-81. doi: 10.1002/ajmg.1320440418. Am J Med Genet. 1992. PMID: 1442891

7

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. Among authors: jackson lg. Am J Med Genet. 1993 Nov 15;47(7):1053-8. doi: 10.1002/ajmg.1320470724. Am J Med Genet. 1993. PMID: 7507292

8

Growth manifestations in the Brachmann-de Lange syndrome.

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

9

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. Liu J, et al. Hum Mutat. 2009 Nov;30(11):1535-42. doi: 10.1002/humu.21095. Hum Mutat. 2009. PMID: 19701948 Free PMC article.

10

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID. Clark DM, et al. Among authors: jackson lg. Am J Med Genet A. 2012 Aug;158A(8):1848-56. doi: 10.1002/ajmg.a.35410. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740382 Free PMC article. Review.

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