Shanske A - Search Results

1

Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.

Shanske A, Ellison J, Vuguin P, Dowling P, Wasserman E, Heinrich J, Saenger P. Shanske A, et al. Am J Med Genet. 1999 Jan 1;82(1):34-9. Am J Med Genet. 1999. PMID: 9916840

2

Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.

Shanske AL, Puri M, Marshall B, Saenger P. Shanske AL, et al. Horm Res. 2007;67(2):61-6. doi: 10.1159/000096087. Epub 2006 Oct 6. Horm Res. 2007. PMID: 17028440

3

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.

4

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.

5

All shook up by SHOX deficiency.

Rappold GA, Shanske A, Saenger P. Rappold GA, et al. Among authors: shanske a. J Pediatr. 2005 Oct;147(4):422-4. doi: 10.1016/j.jpeds.2005.06.048. J Pediatr. 2005. PMID: 16227022 No abstract available.

6

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.

7

A myeloproliferative disorder with eosinophilia associated with a unique translocation (3;5).

Shanske AL, Kalman A, Grunwald H. Shanske AL, et al. Br J Haematol. 1996 Dec;95(3):524-6. doi: 10.1046/j.1365-2141.1996.d01-1928.x. Br J Haematol. 1996. PMID: 8943895

8

AT-rich palindromes mediate the constitutional t(11;22) translocation.

Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE. Edelmann L, et al. Among authors: shanske a. Am J Hum Genet. 2001 Jan;68(1):1-13. doi: 10.1086/316952. Epub 2000 Nov 28. Am J Hum Genet. 2001. PMID: 11095996 Free PMC article.

9

An adult with 49,XYYYY karyotype: case report and endocrine studies.

Shanske A, Sachmechi I, Patel DK, Bishnoi A, Rosner F. Shanske A, et al. Am J Med Genet. 1998 Nov 2;80(2):103-6. Am J Med Genet. 1998. PMID: 9805123

10

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.

Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M, Cannizzaro L, Shanske A, Morrow BE. Funke B, et al. Among authors: shanske a. Am J Hum Genet. 1999 Mar;64(3):747-58. doi: 10.1086/302284. Am J Hum Genet. 1999. PMID: 10053009 Free PMC article.

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