Iannaccone A - Search Results

1

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

Wilkin J, Kerr NC, Byrd KW, Ward JC, Iannaccone A. Wilkin J, et al. Among authors: iannaccone a. Ophthalmic Genet. 2016 Jun;37(2):217-27. doi: 10.3109/13816810.2015.1028647. Epub 2015 Sep 2. Ophthalmic Genet. 2016. PMID: 26331342

2

The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.

Iannaccone A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale MR. Iannaccone A, et al. Ophthalmic Genet. 1997 Mar;18(1):13-26. doi: 10.3109/13816819709057879. Ophthalmic Genet. 1997. PMID: 9134546

3

Visual evoked potentials in children with neurofibromatosis type 1.

Iannaccone A, McCluney RA, Brewer VR, Spiegel PH, Taylor JS, Kerr NC, Pivnick EK. Iannaccone A, et al. Doc Ophthalmol. 2002 Jul;105(1):63-81. doi: 10.1023/a:1015719803719. Doc Ophthalmol. 2002. PMID: 12152804

4

Familial unilateral Brown syndrome.

Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Iannaccone A, et al. Ophthalmic Genet. 2002 Sep;23(3):175-84. doi: 10.1076/opge.23.3.175.7882. Ophthalmic Genet. 2002. PMID: 12324876

5

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP. Iannaccone A, et al. Doc Ophthalmol. 2007 Sep;115(2):111-6. doi: 10.1007/s10633-007-9054-0. Epub 2007 May 3. Doc Ophthalmol. 2007. PMID: 17476461

6

Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.

Iannaccone A, Kerr NC, Kinnick TR, Calzada JI, Stone EM. Iannaccone A, et al. Arch Ophthalmol. 2011 Feb;129(2):211-7. doi: 10.1001/archophthalmol.2010.367. Arch Ophthalmol. 2011. PMID: 21320969

7

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A. Cox KF, et al. Among authors: iannaccone a. Vision Res. 2012 Dec 15;75:77-87. doi: 10.1016/j.visres.2012.08.005. Epub 2012 Aug 24. Vision Res. 2012. PMID: 22940089 Free article.

8

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.

Hood MP, Kerr NC, Smaoui N, Iannaccone A. Hood MP, et al. Among authors: iannaccone a. Doc Ophthalmol. 2015 Apr;130(2):157-64. doi: 10.1007/s10633-014-9477-3. Epub 2015 Jan 3. Doc Ophthalmol. 2015. PMID: 25555363

9

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM. Jacobson SG, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2000 Jun;41(7):1898-908. Invest Ophthalmol Vis Sci. 2000. PMID: 10845615

10

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: iannaccone a. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270

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