Jauregui R - Search Results

1

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.

Jauregui R, Abreu NJ, Golan S, Panarelli JF, Sigireddi M, Nayak GK, Gold DM, Rucker JC, Galetta SL, Grossman SN. Jauregui R, et al. Brain Sci. 2023 Jul 5;13(7):1030. doi: 10.3390/brainsci13071030. Brain Sci. 2023. PMID: 37508961 Free PMC article.

2

Treatment of Periodic Alternating Nystagmus as a Consequence of Ataxia-Telangiectasia.

Jauregui R, Bhagat D, Garcia MR, Miller C, Grossman SN. Jauregui R, et al. J Neuroophthalmol. 2024 Mar 1;44(1):e151-e152. doi: 10.1097/WNO.0000000000001739. Epub 2022 Oct 21. J Neuroophthalmol. 2024. PMID: 36730924 No abstract available.

3

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Cui X, Jauregui R, Park KS, Tsang SH. Cui X, et al. Among authors: jauregui r. Ophthalmic Genet. 2018 Aug;39(4):512-516. doi: 10.1080/13816810.2018.1474370. Epub 2018 May 14. Ophthalmic Genet. 2018. PMID: 29757052 Free PMC article.

4

Idiopathic Intracranial Hypertension.

Jauregui R, Busis NA. Jauregui R, et al. N Engl J Med. 2023 Dec 28;389(26):2467. doi: 10.1056/NEJMicm2308721. N Engl J Med. 2023. PMID: 38157502 No abstract available.

5

Caring for Hereditary Childhood Retinal Blindness.

Jauregui R, Cho GY, Takahashi VKL, Takiuti JT, Bassuk AG, Mahajan VB, Tsang SH. Jauregui R, et al. Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):183-191. doi: 10.22608/APO.201851. Epub 2018 Mar 14. Asia Pac J Ophthalmol (Phila). 2018. PMID: 29536675 Free article. Review.

6

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Cho A, Lima de Carvalho JR Jr, Tanaka AJ, Jauregui R, Levi SR, Bassuk AG, Mahajan VB, Tsang SH. Cho A, et al. Among authors: jauregui r. Orphanet J Rare Dis. 2020 Jan 30;15(1):32. doi: 10.1186/s13023-020-1312-1. Orphanet J Rare Dis. 2020. PMID: 32000842 Free PMC article.

7

Non-paraneoplastic related retinopathy: clinical challenges and review.

Takiuti JT, Takahashi VKL, Xu CL, Jauregui R, Tsang SH. Takiuti JT, et al. Among authors: jauregui r. Ophthalmic Genet. 2019 Aug;40(4):293-297. doi: 10.1080/13816810.2019.1650072. Epub 2019 Aug 8. Ophthalmic Genet. 2019. PMID: 31394964 Free PMC article. Review.

8

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Jauregui R, Nuzbrokh Y, Su PY, Zernant J, Allikmets R, Tsang SH, Sparrow JR. Jauregui R, et al. Transl Vis Sci Technol. 2021 Jan 5;10(1):3. doi: 10.1167/tvst.10.1.3. eCollection 2021 Jan. Transl Vis Sci Technol. 2021. PMID: 33505770 Free PMC article.

9

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH. Jauregui R, et al. Am J Ophthalmol. 2019 Nov;207:77-86. doi: 10.1016/j.ajo.2019.06.002. Epub 2019 Jun 8. Am J Ophthalmol. 2019. PMID: 31181178 Free PMC article.

10

Deferoxamine-induced electronegative ERG responses.

Jauregui R, Park KS, Bassuk AG, Mahajan VB, Tsang SH. Jauregui R, et al. Doc Ophthalmol. 2018 Aug;137(1):15-23. doi: 10.1007/s10633-018-9640-3. Epub 2018 May 16. Doc Ophthalmol. 2018. PMID: 29770904

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