Miraldi Utz V - Search Results

1

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Miraldi Utz V, Brightman DS, Sandoval MA, Hufnagel RB, Saal HM. Miraldi Utz V, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):644-655. doi: 10.1002/ajmg.c.31839. Epub 2020 Sep 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32888375 Free PMC article. Review.

2

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

Wasserman H, Hufnagel RB, Miraldi Utz V, Zhang K, Valencia CA, Leslie ND, Crimmins NA. Wasserman H, et al. Among authors: miraldi utz v. Pediatr Diabetes. 2016 Nov;17(7):535-539. doi: 10.1111/pedi.12335. Epub 2015 Nov 4. Pediatr Diabetes. 2016. PMID: 26530398 Free PMC article.

3

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease.

Sisk RA, Miraldi-Utz V, Schwartz TL, Hufnagel RB, Ahmed ZM. Sisk RA, et al. Among authors: miraldi utz v. Ophthalmic Surg Lasers Imaging Retina. 2022 Aug;53(8):464-467. doi: 10.3928/23258160-20220706-01. Epub 2022 Aug 1. Ophthalmic Surg Lasers Imaging Retina. 2022. PMID: 35951720

4

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

Miraldi Utz V, Ebert JJ, Brightman DS, Simpson BN, Benoit S, Sisk RA. Miraldi Utz V, et al. Ophthalmic Genet. 2023 Feb;44(1):89-92. doi: 10.1080/13816810.2022.2090011. Epub 2022 Nov 25. Ophthalmic Genet. 2023. PMID: 36426739

5

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

Miraldi Utz V, Coussa RG, Marino MJ, Chappelow AV, Pauer GJ, Hagstrom SA, Traboulsi EI. Miraldi Utz V, et al. Br J Ophthalmol. 2014 Apr;98(4):513-8. doi: 10.1136/bjophthalmol-2013-304270. Epub 2014 Jan 23. Br J Ophthalmol. 2014. PMID: 24457364

6

Nature versus nurture: A systematic approach to elucidate gene-environment interactions in the development of myopic refractive errors.

Miraldi Utz V. Miraldi Utz V. Ophthalmic Genet. 2017 Mar-Apr;38(2):117-121. doi: 10.1080/13816810.2016.1183216. Epub 2016 May 27. Ophthalmic Genet. 2017. PMID: 27232389 Review.

7

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV. Miraldi Utz V, et al. JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. JAMA Ophthalmol. 2018. PMID: 29522070 Free PMC article.

8

Gene therapy for RPE65-related retinal disease.

Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI. Miraldi Utz V, et al. Ophthalmic Genet. 2018 Dec;39(6):671-677. doi: 10.1080/13816810.2018.1533027. Epub 2018 Oct 18. Ophthalmic Genet. 2018. PMID: 30335549 Review.

9

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.

Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI. Drack AV, et al. Among authors: miraldi utz v. J AAPOS. 2019 Aug;23(4):226-228.e1. doi: 10.1016/j.jaapos.2019.04.005. Epub 2019 Jun 21. J AAPOS. 2019. PMID: 31233830

10

Surgical management of lens subluxation in Marfan syndrome.

Miraldi Utz V, Coussa RG, Traboulsi EI. Miraldi Utz V, et al. J AAPOS. 2014 Apr;18(2):140-6. doi: 10.1016/j.jaapos.2013.12.007. J AAPOS. 2014. PMID: 24698610

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