Trzupek KM - Search Results

1

Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

Trzupek KM, Falk RE, Demer JL, Weleber RG. Trzupek KM, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1218-22. doi: 10.1002/ajmg.a.31717. Am J Med Genet A. 2007. PMID: 17486591

2

Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy.

Weleber RG, Kurz DE, Trzupek KM. Weleber RG, et al. Among authors: trzupek km. Ophthalmol Clin North Am. 2003 Dec;16(4):583-93, vii. doi: 10.1016/s0896-1549(03)00072-5. Ophthalmol Clin North Am. 2003. PMID: 14740999 Review.

3

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Weleber RG, Gupta N, Trzupek KM, Wepner MS, Kurz DE, Milam AH. Weleber RG, et al. Among authors: trzupek km. Mol Genet Metab. 2004 Sep-Oct;83(1-2):128-37. doi: 10.1016/j.ymgme.2004.06.019. Mol Genet Metab. 2004. PMID: 15464427

4

Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.

Weleber RG, Watzke RC, Shults WT, Trzupek KM, Heckenlively JR, Egan RA, Adamus G. Weleber RG, et al. Among authors: trzupek km. Am J Ophthalmol. 2005 May;139(5):780-94. doi: 10.1016/j.ajo.2004.12.104. Am J Ophthalmol. 2005. PMID: 15860281

5

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

Grant EA, Trzupek KM, Reiss J, Crow K, Messiaen L, Weleber RG. Grant EA, et al. Among authors: trzupek km. Ophthalmic Genet. 2008 Sep;29(3):133-8. doi: 10.1080/13816810802206507. Ophthalmic Genet. 2008. PMID: 18766994

6

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. Weleber RG, et al. Among authors: trzupek km. Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106. Invest Ophthalmol Vis Sci. 2011. PMID: 20811047

7

Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.

Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG. Francis PJ, et al. Among authors: trzupek km. Arch Ophthalmol. 2005 Aug;123(8):1146-9. doi: 10.1001/archopht.123.8.1146. Arch Ophthalmol. 2005. PMID: 16087855 No abstract available.

8

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP. Thiagalingam S, et al. Among authors: trzupek km. Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681. Ophthalmic Genet. 2007. PMID: 17896311

9

Choroideremia: analysis of the retina from a female symptomatic carrier.

Bonilha VL, Trzupek KM, Li Y, Francis PJ, Hollyfield JG, Rayborn ME, Smaoui N, Weleber RG. Bonilha VL, et al. Among authors: trzupek km. Ophthalmic Genet. 2008 Sep;29(3):99-110. doi: 10.1080/13816810802206499. Ophthalmic Genet. 2008. PMID: 18766988 Free PMC article.

10

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. Arch Ophthalmol. 2007 Feb;125(2):252-8. doi: 10.1001/archopht.125.2.252. Arch Ophthalmol. 2007. PMID: 17296903

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