Babovic-Vuksanovic D - Search Results

1

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. Babovic-Vuksanovic D, et al. J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4. J Pediatr. 1999. PMID: 10586187

2

Maternal cell contamination of buccal smear samples in nursing neonates.

Babovic-Vuksanovic D, Michels VV, Law ME, Lindor NM, Jalal SM. Babovic-Vuksanovic D, et al. Clin Genet. 1998 Feb;53(2):114-8. doi: 10.1111/j.1399-0004.1998.tb02657.x. Clin Genet. 1998. PMID: 9611071

3

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

4

Guidelines for buccal smear collection in breast-fed infants.

Babovic-Vuksanovic D, Michels VV, Law ME, Bailey R, Wyatt WA, Lindor NM, Jalal SM. Babovic-Vuksanovic D, et al. Am J Med Genet. 1999 Jun 4;84(4):357-60. doi: 10.1002/(sici)1096-8628(19990604)84:4<357::aid-ajmg9>3.0.co;2-4. Am J Med Genet. 1999. PMID: 10340651

5

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G. Schollen E, et al. Hum Mutat. 2000 Sep;16(3):247-52. doi: 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 2000. PMID: 10980531 Review.

6

Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin.

Mao R, Jalal SM, Snow K, Michels VV, Szabo SM, Babovic-Vuksanovic D. Mao R, et al. Genet Med. 2000 Mar-Apr;2(2):131-5. doi: 10.1097/00125817-200003000-00003. Genet Med. 2000. PMID: 11397326 Free article. Review.

7

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

8

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.

Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J. Nguyen TV, et al. Biochemistry. 2002 Sep 17;41(37):11126-33. doi: 10.1021/bi026030r. Biochemistry. 2002. PMID: 12220177

9

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.

10

Phase II trial of pirfenidone in adults with neurofibromatosis type 1.

Babovic-Vuksanovic D, Ballman K, Michels V, McGrann P, Lindor N, King B, Camp J, Micic V, Babovic N, Carrero X, Spinner R, O'Neill B. Babovic-Vuksanovic D, et al. Neurology. 2006 Nov 28;67(10):1860-2. doi: 10.1212/01.wnl.0000243231.12248.67. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035676 Clinical Trial.

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