Zernant J - Search Results

1

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Jaakson K, et al. Among authors: zernant j. Hum Mutat. 2003 Nov;22(5):395-403. doi: 10.1002/humu.10263. Hum Mutat. 2003. PMID: 14517951

2

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene.

Tõnisson N, Zernant J, Kurg A, Pavel H, Slavin G, Roomere H, Meiel A, Hainaut P, Metspalu A. Tõnisson N, et al. Among authors: zernant j. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5503-8. doi: 10.1073/pnas.082100599. Proc Natl Acad Sci U S A. 2002. PMID: 11960007 Free PMC article.

3

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R. Simonelli F, et al. Among authors: zernant j. Ophthalmic Res. 2004 Mar-Apr;36(2):82-8. doi: 10.1159/000076886. Ophthalmic Res. 2004. PMID: 15017103

4

Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.

Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T. Umeda S, et al. Among authors: zernant j. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):683-91. doi: 10.1167/iovs.04-1031. Invest Ophthalmol Vis Sci. 2005. PMID: 15671300

5

Genotype-phenotype correlation in Italian families with Stargardt disease.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Allikmets R, Rinaldi E. Simonelli F, et al. Among authors: zernant j. Ophthalmic Res. 2005 May-Jun;37(3):159-67. doi: 10.1159/000086073. Epub 2005 May 7. Ophthalmic Res. 2005. PMID: 15942264

6

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Zernant J, et al. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111. Invest Ophthalmol Vis Sci. 2005. PMID: 16123401

7

Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.

Hargitai J, Zernant J, Somfai GM, Vamos R, Farkas A, Salacz G, Allikmets R. Hargitai J, et al. Among authors: zernant j. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4402-8. doi: 10.1167/iovs.05-0504. Invest Ophthalmol Vis Sci. 2005. PMID: 16303926

8

Peripapillary atrophy in Stargardt disease.

Hwang JC, Zernant J, Allikmets R, Barile GR, Chang S, Smith RT. Hwang JC, et al. Among authors: zernant j. Retina. 2009 Feb;29(2):181-6. doi: 10.1097/IAE.0b013e31818a2c01. Retina. 2009. PMID: 18854780 Free PMC article.

9

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF. Escher P, et al. Among authors: zernant j. Hum Mutat. 2009 Mar;30(3):342-51. doi: 10.1002/humu.20858. Hum Mutat. 2009. PMID: 19006237 Free PMC article.

10

Analysis of the ABCA4 gene by next-generation sequencing.

Zernant J, Schubert C, Im KM, Burke T, Brown CM, Fishman GA, Tsang SH, Gouras P, Dean M, Allikmets R. Zernant J, et al. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8479-87. doi: 10.1167/iovs.11-8182. Invest Ophthalmol Vis Sci. 2011. PMID: 21911583 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

78 results

Search Page