Sohocki MM - Search Results

1

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

2

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP. Sohocki MM, et al. Am J Hum Genet. 1998 Nov;63(5):1307-15. doi: 10.1086/302101. Am J Hum Genet. 1998. PMID: 9792858 Free PMC article.

3

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Among authors: sohocki mm. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.

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

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

Tzekov RT, Sohocki MM, Daiger SP, Birch DG. Tzekov RT, et al. Among authors: sohocki mm. Ophthalmic Genet. 2000 Jun;21(2):89-99. Ophthalmic Genet. 2000. PMID: 10916183

6

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.

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

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

10

Identifying and mapping novel retinal-expressed ESTs from humans.

Malone K, Sohocki MM, Sullivan LS, Daiger SP. Malone K, et al. Among authors: sohocki mm. Mol Vis. 1999 May 4;5:5. Mol Vis. 1999. PMID: 10228186 Free PMC article.

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