Babovic-Vuksanovic D - Search Results

1

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, Babovic-Vuksanovic D. Cuturilo G, et al. Clin Genet. 2016 Jan;89(1):109-14. doi: 10.1111/cge.12572. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25691298 Review.

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

Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters.

Babovic-Vuksanovic D, Westman JA, Jalal SM, Lindor NM. Babovic-Vuksanovic D, et al. Clin Dysmorphol. 1998 Jul;7(3):171-6. doi: 10.1097/00019605-199807000-00003. Clin Dysmorphol. 1998. PMID: 9689989

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

Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype.

Babovic N, Simmons PS, Moir C, Thorland EC, Scheithauer B, Gliem TJ, Babovic-Vuksanovic D. Babovic N, et al. Am J Med Genet A. 2010 Oct;152A(10):2623-7. doi: 10.1002/ajmg.a.33637. Am J Med Genet A. 2010. PMID: 20815035

6

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC. Hoppman-Chaney N, et al. Am J Med Genet A. 2012 Jan;158A(1):193-8. doi: 10.1002/ajmg.a.34360. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106055

7

Retinal mosaicism in a girl with an X-Y translocation.

Cherfan CG, Link TP, Babovic-Vuksanovic D, Ellison JW, Brodsky MC. Cherfan CG, et al. Br J Ophthalmol. 2013 Feb;97(2):243. doi: 10.1136/bjophthalmol-2012-301738. Epub 2012 Nov 2. Br J Ophthalmol. 2013. PMID: 23125064 No abstract available.

8

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Ellingson MS, Wick MJ, White WM, Raymond KM, Saenger AK, Pichurin PN, Wassif CA, Porter FD, Babovic-Vuksanovic D. Ellingson MS, et al. Clin Genet. 2014 May;85(5):495-7. doi: 10.1111/cge.12209. Epub 2013 Jun 24. Clin Genet. 2014. PMID: 23790112 Free PMC article. No abstract available.

9

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

10

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Mills JR, Moyer AM, Kipp BR, Poplawski AB, Messiaen LM, Babovic-Vuksanovic D. Mills JR, et al. Clin Genet. 2018 Jan;93(1):187-190. doi: 10.1111/cge.13099. Epub 2017 Nov 29. Clin Genet. 2018. PMID: 28737257

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