Riethman H - Search Results

1

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB. Conlin LK, et al. Among authors: riethman h. J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972251

2

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. DeScipio C, et al. Among authors: riethman h. Am J Med Genet A. 2008 Mar 15;146A(6):730-9. doi: 10.1002/ajmg.a.32216. Am J Med Genet A. 2008. PMID: 18257100

3

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Among authors: riethman h. Am J Med Genet A. 2010 Feb;152A(2):373-82. doi: 10.1002/ajmg.a.33219. Am J Med Genet A. 2010. PMID: 20101690 Free PMC article.

4

Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20".

Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Descipio C, et al. Among authors: riethman h. Am J Med Genet A. 2010 Jun;152A(6):1599. doi: 10.1002/ajmg.a.33390. Am J Med Genet A. 2010. PMID: 20503345 No abstract available.

5

Sequence organization of the human chromosome 2q telomere.

Macina RA, Negorev DG, Spais C, Ruthig LA, Hu XL, Riethman HC. Macina RA, et al. Among authors: riethman hc. Hum Mol Genet. 1994 Oct;3(10):1847-53. doi: 10.1093/hmg/3.10.1847. Hum Mol Genet. 1994. PMID: 7545974

6

Interstitial deletions are not the main mechanism leading to 18q deletions.

Strathdee G, Harrison W, Riethman HC, Goodart SA, Overhauser J. Strathdee G, et al. Among authors: riethman hc. Am J Hum Genet. 1994 Jun;54(6):1085-91. Am J Hum Genet. 1994. PMID: 8198131 Free PMC article.

7

Physical analysis of the terminal 270 kb of DNA from human chromosome 1q.

Negorev DG, Macina RA, Spais C, Ruthig LA, Hu XL, Riethman HC. Negorev DG, et al. Among authors: riethman hc. Genomics. 1994 Aug;22(3):569-78. doi: 10.1006/geno.1994.1430. Genomics. 1994. PMID: 8001968

8

Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres.

Macina RA, Morii K, Hu XL, Negorev DG, Spais C, Ruthig LA, Riethman HC. Macina RA, et al. Among authors: riethman hc. Genome Res. 1995 Oct;5(3):225-32. doi: 10.1101/gr.5.3.225. Genome Res. 1995. PMID: 8593610 Free article.

9

Structure of the terminal 300 kb of DNA from human chromosome 21q.

Reston JT, Hu XL, Macina RA, Spais C, Riethman HC. Reston JT, et al. Among authors: riethman hc. Genomics. 1995 Mar 1;26(1):31-8. doi: 10.1016/0888-7543(95)80079-2. Genomics. 1995. PMID: 7782083

10

The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization.

Negorev D, Riethman H, Wechsler-Reya R, Sakamuro D, Prendergast GC, Simon D. Negorev D, et al. Among authors: riethman h. Genomics. 1996 Apr 15;33(2):329-31. doi: 10.1006/geno.1996.0205. Genomics. 1996. PMID: 8725406 No abstract available.

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