Gorin MB - Search Results

1

A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.

Demirci FY, Rigatti BW, Mah TS, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Am J Ophthalmol. 2004 Jul;138(1):171-3. doi: 10.1016/j.ajo.2004.02.060. Am J Ophthalmol. 2004. PMID: 15234312 Free article.

2

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Am J Hum Genet. 2002 Apr;70(4):1049-53. doi: 10.1086/339620. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857109 Free PMC article.

3

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.

Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Am J Ophthalmol. 2004 Sep;138(3):504-5. doi: 10.1016/j.ajo.2004.04.019. Am J Ophthalmol. 2004. PMID: 15364249 Free article.

4

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Am J Ophthalmol. 2005 Feb;139(2):386-8. doi: 10.1016/j.ajo.2004.08.041. Am J Ophthalmol. 2005. PMID: 15734019 Free article.

5

A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.

Demirci FY, Rigatti BW, Mah TS, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Am J Ophthalmol. 2006 Jan;141(1):208-10. doi: 10.1016/j.ajo.2005.07.077. Am J Ophthalmol. 2006. PMID: 16387007 Free article.

6

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.

Demirci FY, Ramser J, White NJ, Rigatti BW, Meindl A, Lewis KF, Wen G, Gorin MB. Demirci FY, et al. Among authors: gorin mb. DNA Seq. 2003 Apr;14(2):123-7. doi: 10.1080/1042517021000056952. DNA Seq. 2003. PMID: 12825353

7

Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

Demirci FY, Chang MH, Mah TS, Romero MF, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Mol Vis. 2006 Apr 10;12:324-30. Mol Vis. 2006. PMID: 16636648 Free article.

8

Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.

Seymour AB, Dash-Modi A, O'Connell JR, Shaffer-Gordon M, Mah TS, Stefko ST, Nagaraja R, Brown J, Kimura AE, Ferrell RE, Gorin MB. Seymour AB, et al. Among authors: gorin mb. Am J Hum Genet. 1998 Jan;62(1):122-9. doi: 10.1086/301667. Am J Hum Genet. 1998. PMID: 9443860 Free PMC article.

9

Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS. Hardcastle AJ, et al. Among authors: gorin mb. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6. Invest Ophthalmol Vis Sci. 2000. PMID: 10892847

10

Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4).

Demirci FY, White NJ, Rigatti BW, Lewis KF, Gorin MB. Demirci FY, et al. Among authors: gorin mb. Mol Vis. 2001 Oct 5;7:234-9. Mol Vis. 2001. PMID: 11590366 Free article.

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