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Spatial and temporal expression of MFRP and its interaction with CTRP5.
Mandal MN, Vasireddy V, Jablonski MM, Wang X, Heckenlively JR, Hughes BA, Reddy GB, Ayyagari R. Mandal MN, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5514-21. doi: 10.1167/iovs.06-0449. Invest Ophthalmol Vis Sci. 2006. PMID: 17122143
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. Duncan JL, et al. Among authors: heckenlively jr. Ophthalmic Genet. 2016;37(1):44-52. doi: 10.3109/13816810.2014.929716. Epub 2014 Jul 9. Ophthalmic Genet. 2016. PMID: 25007332 Free PMC article.
Molecular testing for hereditary retinal disease as part of clinical care.
Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Downs K, et al. Among authors: heckenlively jr. Arch Ophthalmol. 2007 Feb;125(2):252-8. doi: 10.1001/archopht.125.2.252. Arch Ophthalmol. 2007. PMID: 17296903
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. Chekuri A, et al. Among authors: heckenlively jr. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5. Hum Genet. 2018. PMID: 29978320 Free PMC article.
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. Gerth-Kahlert C, et al. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597. Invest Ophthalmol Vis Sci. 2017. PMID: 28763557 Free article.
240 results