Babovic-Vuksanovic D - Search Results

1

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D. Dhamija R, et al. Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24888332

2

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

3

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.

Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D. Lorentz CP, et al. Am J Med Genet. 2002 Jul 22;111(1):61-7. doi: 10.1002/ajmg.10457. Am J Med Genet. 2002. PMID: 12124737 Review.

4

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

5

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

6

Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

Pittock ST, Babovic-Vuksanovic D, Lteif A. Pittock ST, et al. Am J Med Genet A. 2005 Jun 15;135(3):314-6. doi: 10.1002/ajmg.a.30721. Am J Med Genet A. 2005. PMID: 15887261

7

Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.

Merritt JL 2nd, Davis DM, Pittelkow MR, Babovic-Vuksanovic D. Merritt JL 2nd, et al. Am J Med Genet A. 2006 Aug 1;140(15):1669-72. doi: 10.1002/ajmg.a.31351. Am J Med Genet A. 2006. PMID: 16835931

8

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

9

Vitamin A deficiency in an infant with PAGOD syndrome.

Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D. Gavrilova R, et al. Am J Med Genet A. 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. Am J Med Genet A. 2009. PMID: 19760653

10

Towards individualized medicine: insights gained from genomic studies.

Kirmani S, Babovic-Vuksanovic D. Kirmani S, et al. Bosn J Basic Med Sci. 2009 Oct;9 Suppl 1(Suppl 1):S11-S16. doi: 10.17305/bjbms.2009.2748. Bosn J Basic Med Sci. 2009. PMID: 19912112 Free PMC article.

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