Sohocki MM - Search Results

1

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.

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 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.

4

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

5

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.

6

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

7

Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci.

Sohocki MM, Sullivan LS, Mintz-Hittner HA, Small K, Ferrell RE, Daiger SP. Sohocki MM, et al. Am J Hum Genet. 1997 Jul;61(1):239-41. doi: 10.1016/S0002-9297(07)64299-2. Am J Hum Genet. 1997. PMID: 9246008 Free PMC article. No abstract available.

8

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.

9

Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.

Sohocki MM, Malone KA, Sullivan LS, Daiger SP. Sohocki MM, et al. Genomics. 1999 May 15;58(1):29-33. doi: 10.1006/geno.1999.5810. Genomics. 1999. PMID: 10331942

10

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

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