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91 results
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Wilms' tumor in a 13-year old girl with trisomy 18.
Karayalcin G, Shanske A, Honigman R. Karayalcin G, et al. Among authors: shanske a. Am J Dis Child. 1981 Jul;135(7):665-6. doi: 10.1001/archpedi.1981.02130310069024. Am J Dis Child. 1981. PMID: 6264780 No abstract available.
Trisomy 18 in a second 20-year-old woman.
Shanske AL. Shanske AL. Am J Med Genet A. 2006 May 1;140(9):966-7. doi: 10.1002/ajmg.a.31171. Am J Med Genet A. 2006. PMID: 16575893 No abstract available.
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins.
Shanske AL, Dowling P, Schmidt R, White BJ, Russell B, Bogdanow A, Marion RW. Shanske AL, et al. J Med Genet. 1999 Aug;36(8):625-8. J Med Genet. 1999. PMID: 10465114 Free PMC article.
Mosaic trisomy of a small r(1) with an abnormal phenotype.
Shanske AL, Marion RW. Shanske AL, et al. Am J Med Genet. 2002 Jul 15;110(4):413; author reply 414. doi: 10.1002/ajmg.10482. Am J Med Genet. 2002. PMID: 12116223 No abstract available.
Letter to the editor: Hidden pituitary gland: implications for assessment.
Paroder V, Miller T, Shanske AL, Shiota K, Khan MN, Cohen MM Jr. Paroder V, et al. Among authors: shanske al. Am J Med Genet A. 2013 Mar;161A(3):630-1. doi: 10.1002/ajmg.a.35880. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401199 No abstract available.
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Among authors: shanske al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW. Shanske A, et al. Am J Med Genet. 2001 Aug 15;102(3):231-6. doi: 10.1002/ajmg.1451. Am J Med Genet. 2001. PMID: 11484199 Review.
Normal adaptive function with learning disability in duplication 8p including band p22.
Sklower Brooks SS, Genovese M, Gu H, Duncan CJ, Shanske A, Jenkins EC. Sklower Brooks SS, et al. Among authors: shanske a. Am J Med Genet. 1998 Jun 30;78(2):114-7. doi: 10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>;2-6. Am J Med Genet. 1998. PMID: 9674899
Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
Shanske AL, Edelmann L, Kardon NB, Gosset P, Levy B. Shanske AL, et al. Am J Med Genet A. 2004 Nov 15;131(1):29-35. doi: 10.1002/ajmg.a.30311. Am J Med Genet A. 2004. PMID: 15368480 Review.
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
Shanske AL, Patel A, Saukam S, Levy B, L├╝decke HJ. Shanske AL, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. Am J Med Genet A. 2008. PMID: 19012352
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