Babovic-Vuksanovic D - Search Results

1

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

Ensenauer R, Tuchman M, El-Youssef M, Kotagal S, Ishitani MB, Matern D, Babovic-Vuksanovic D. Ensenauer R, et al. Mol Genet Metab. 2005 Apr;84(4):363-6. doi: 10.1016/j.ymgme.2004.12.011. Mol Genet Metab. 2005. PMID: 15781198

2

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients.

Jalal SM, Harwood AR, Sekhon GS, Pham Lorentz C, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH Jr, Michels VV. Jalal SM, et al. Genet Med. 2003 Jan-Feb;5(1):28-34. doi: 10.1097/00125817-200301000-00005. Genet Med. 2003. PMID: 12544473 Free article.

3

Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.

Babovic-Vuksanovic D, Jenkins SC, Ensenauer R, Newman DC, Jalal SM. Babovic-Vuksanovic D, et al. Am J Med Genet A. 2004 Jan 30;124A(3):318-22. doi: 10.1002/ajmg.a.20391. Am J Med Genet A. 2004. PMID: 14708108

4

Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5).

Ensenauer R, Jalal S, Meyer R, Babovic-Vuksanovic D. Ensenauer R, et al. Am J Med Genet A. 2004 Feb 15;125A(1):86-91. doi: 10.1002/ajmg.a.20420. Am J Med Genet A. 2004. PMID: 14755472

5

The phenotypic spectrum of trisomy 2: report of two new cases.

Mihci E, Velagaleti GV, Ensenauer R, Babovic-Vuksanovic D. Mihci E, et al. Clin Dysmorphol. 2009 Oct;18(4):201-4. doi: 10.1097/MCD.0b013e32832d0639. Clin Dysmorphol. 2009. PMID: 19474704

6

Anesthetic implications of ornithine transcarbamylase deficiency.

Dutoit AP, Flick RR, Sprung J, Babovic-Vuksanovic D, Weingarten TN. Dutoit AP, et al. Paediatr Anaesth. 2010 Jul;20(7):666-73. doi: 10.1111/j.1460-9592.2010.03322.x. Epub 2010 May 20. Paediatr Anaesth. 2010. PMID: 20497355

7

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.

Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV. Babovic-Vuksanovic D, et al. Am J Med Genet. 1998 Oct 12;79(5):383-7. Am J Med Genet. 1998. PMID: 9779806

8

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. Mao R, et al. Am J Med Genet. 2002 Jul 15;110(4):338-45. doi: 10.1002/ajmg.10467. Am J Med Genet. 2002. PMID: 12116207

9

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D. Kitzmann AS, et al. Ophthalmic Genet. 2006 Dec;27(4):157-9. doi: 10.1080/13816810600977168. Ophthalmic Genet. 2006. PMID: 17148043

10

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. Vairo FP, et al. Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28831385 Free PMC article.

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