Sohocki MM - Search Results

1

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK. Damji KF, et al. Among authors: sohocki mm. Can J Ophthalmol. 2001 Aug;36(5):252-9. doi: 10.1016/s0008-4182(01)80018-1. Can J Ophthalmol. 2001. PMID: 11548141

2

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. Dharmaraj S, et al. Among authors: sohocki mm. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368

3

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396

4

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP. Sohocki MM, et al. Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732. Nat Genet. 2000. PMID: 10615133 Free PMC article.

5

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis.

Dyer MA, Donovan SL, Zhang J, Gray J, Ortiz A, Tenney R, Kong J, Allikmets R, Sohocki MM. Dyer MA, et al. Among authors: sohocki mm. Brain Res Mol Brain Res. 2004 Dec 20;132(2):208-20. doi: 10.1016/j.molbrainres.2004.10.011. Brain Res Mol Brain Res. 2004. PMID: 15582159

6

Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.

Kanaya K, Sohocki MM, Kamitani T. Kanaya K, et al. Among authors: sohocki mm. Biochem Biophys Res Commun. 2004 May 7;317(3):768-73. doi: 10.1016/j.bbrc.2004.03.108. Biochem Biophys Res Commun. 2004. PMID: 15081406

7

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans.

Sohocki MM, Sullivan LS, Tirpak DL, Daiger SP. Sohocki MM, et al. Mamm Genome. 2001 Jul;12(7):566-8. doi: 10.1007/s003350020024. Mamm Genome. 2001. PMID: 11420621 Free PMC article.

8

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

Akey DT, Zhu X, Dyer M, Li A, Sorensen A, Blackshaw S, Fukuda-Kamitani T, Daiger SP, Craft CM, Kamitani T, Sohocki MM. Akey DT, et al. Among authors: sohocki mm. Hum Mol Genet. 2002 Oct 15;11(22):2723-33. doi: 10.1093/hmg/11.22.2723. Hum Mol Genet. 2002. PMID: 12374762 Free PMC article.

9

Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies.

Gallon VA, Wilkie SE, Deery EC, Newbold RJ, Sohocki MM, Bhattacharya SS, Hunt DM, Warren MJ. Gallon VA, et al. Among authors: sohocki mm. Biochim Biophys Acta. 2004 Oct 14;1690(2):141-9. doi: 10.1016/j.bbadis.2004.06.012. Biochim Biophys Acta. 2004. PMID: 15469903 Free article.

10

Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites.

Sohocki MM, Sullivan LS, Harrison WR, Sodergren EJ, Elder FF, Weinstock G, Tanase S, Daiger SP. Sohocki MM, et al. Genomics. 1997 Mar 1;40(2):247-52. doi: 10.1006/geno.1996.4604. Genomics. 1997. PMID: 9119391

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

22 results

Search Page

Filters