Kostiner D - Search Results

1

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Among authors: kostiner d. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240

2

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q.

Kostiner DR, Nguyen H, Cox VA, Cotter PD. Kostiner DR, et al. Cytogenet Genome Res. 2002;98(1):9-12. doi: 10.1159/000068536. Cytogenet Genome Res. 2002. PMID: 12584435

3

Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR.

Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D, Albertson DG, Norton ME, Cotter PD. Ki A, et al. Among authors: kostiner dr. Am J Med Genet A. 2003 Jul 30;120A(3):365-9. doi: 10.1002/ajmg.a.20236. Am J Med Genet A. 2003. PMID: 12838556

4

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Among authors: kostiner d. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

5

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Among authors: kostiner d. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.

6

Male infertility: analysis of the markers and genes on the human Y chromosome.

Kostiner DR, Turek PJ, Reijo RA. Kostiner DR, et al. Hum Reprod. 1998 Nov;13(11):3032-8. doi: 10.1093/humrep/13.11.3032. Hum Reprod. 1998. PMID: 9853850 Review.

7

A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II.

Sidden CR, Filly RA, Norton ME, Kostiner DR. Sidden CR, et al. Among authors: kostiner dr. J Ultrasound Med. 2001 Jun;20(6):699-703. doi: 10.7863/jum.2001.20.6.699. J Ultrasound Med. 2001. PMID: 11400945

8

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Klein OD, et al. Among authors: kostiner dr. Hepatol Int. 2008 Sep;2(3):390-4. doi: 10.1007/s12072-008-9078-x. Epub 2008 May 7. Hepatol Int. 2008. PMID: 19669271 Free PMC article.

9

Hyperammonemia in urea cycle disorders: role of the nephrologist.

Mathias RS, Kostiner D, Packman S. Mathias RS, et al. Among authors: kostiner d. Am J Kidney Dis. 2001 May;37(5):1069-80. doi: 10.1016/s0272-6386(05)80026-5. Am J Kidney Dis. 2001. PMID: 11325692 Review.

10

Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.

Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Takanashi J, et al. Among authors: kostiner d. AJNR Am J Neuroradiol. 2003 Mar;24(3):390-3. AJNR Am J Neuroradiol. 2003. PMID: 12637287 Free PMC article.

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