Bardakjian TM - Search Results

1

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Huynh N, et al. Among authors: bardakjian tm. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5. Am J Ophthalmol. 2013. PMID: 24012100 Free PMC article.

2

Ocular manifestations of PACS1 mutation.

Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Pefkianaki M, et al. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14. J AAPOS. 2018. PMID: 29550517

3

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.

4

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. Ullah E, et al. Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23. Ophthalmic Genet. 2017. PMID: 27661448 Free PMC article.

5

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Watson G, Schneider A, Mackey DA, Grigg JR, Zenker M, Jamieson RV. Ng WY, et al. Among authors: bardakjian tm. Clin Genet. 2013 Feb;83(2):162-8. doi: 10.1111/j.1399-0004.2012.01851.x. Epub 2012 Feb 20. Clin Genet. 2013. PMID: 22283518

6

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. Bardakjian TM, et al. Am J Med Genet A. 2010 Dec;152A(12):3120-3. doi: 10.1002/ajmg.a.33492. Am J Med Genet A. 2010. PMID: 21082658

7

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A. Amlie-Wolf L, et al. Am J Med Genet A. 2022 Jan;188(1):187-198. doi: 10.1002/ajmg.a.62518. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562068 Free PMC article.

8

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.

Narendra DP, Isonaka R, Nguyen D, Schindler AB, Kokkinis AD, Ehrlich D, Bardakjian TM, Goldstein DS, Liang TW, Gonzalez-Alegre P. Narendra DP, et al. Among authors: bardakjian tm. Neurology. 2020 May 26;94(21):944. doi: 10.1212/WNL.0000000000009502. Neurology. 2020. PMID: 32451338 No abstract available.

9

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

Bardakjian TM, Schneider A. Bardakjian TM, et al. Am J Med Genet A. 2005 Jan 1;132A(1):54-6. doi: 10.1002/ajmg.a.30442. Am J Med Genet A. 2005. PMID: 15578584 Review.

10

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Zhou J, et al. Among authors: bardakjian tm. Mol Vis. 2008 Mar 24;14:583-92. Mol Vis. 2008. PMID: 18385794 Free PMC article.

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