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Items: 1 to 50 of 135

1.

Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.

Sarfarazi M.

J Ophthalmic Vis Res. 2018 Oct-Dec;13(4):373-375. doi: 10.4103/jovr.jovr_232_18. No abstract available.

2.

Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration.

Ohlemacher SK, Sridhar A, Xiao Y, Hochstetler AE, Sarfarazi M, Cummins TR, Meyer JS.

Stem Cells. 2016 Jun;34(6):1553-62. doi: 10.1002/stem.2356. Epub 2016 Mar 21.

3.

Common Molecular Challenges in Glaucoma.

Sarfarazi M.

J Ophthalmic Vis Res. 2015 Apr-Jun;10(2):95-7. doi: 10.4103/2008-322X.163767. No abstract available.

4.

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

de Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, Moura CR, Paula JS, Costa KA, Sarfarazi M, Paolera MD, Finzi S, Ferraz VE, Costa VP, Belfort R Jr, Chakrabarti S.

PLoS One. 2015 May 15;10(5):e0127147. doi: 10.1371/journal.pone.0127147. eCollection 2015.

5.

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Sharafieh R, Child AH, Khaw PT, Fleck B, Sarfarazi M.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):14-20. doi: 10.3109/13816810.2012.716486. Epub 2012 Aug 27.

PMID:
22924778
6.

Co-variation of STI1 and WDR36/UTP21 alters cell proliferation in a glaucoma model.

Footz T, Dubois S, Sarfarazi M, Raymond V, Walter MA.

Mol Vis. 2011;17:1957-69. Epub 2011 Jul 19.

7.

Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.

Choudhary D, Jansson I, Sarfarazi M, Schenkman JB.

Pharmacogenet Genomics. 2008 Aug;18(8):665-76. doi: 10.1097/FPC.0b013e3282ff5a36.

PMID:
18622259
8.

Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma.

Aragon-Martin JA, Ritch R, Liebmann J, O'Brien C, Blaaow K, Mercieca F, Spiteri A, Cobb CJ, Damji KF, Tarkkanen A, Rezaie T, Child AH, Sarfarazi M.

Mol Vis. 2008 Mar 17;14:533-41.

9.

The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome.

Traboulsi EI, Sarfarazi M.

Am J Ophthalmol. 2008 Mar;145(3):391-3. doi: 10.1016/j.ajo.2007.12.002. No abstract available.

PMID:
18282488
10.

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.

Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M.

Eur J Hum Genet. 2008 Mar;16(3):300-4. doi: 10.1038/sj.ejhg.5201982. Epub 2008 Jan 16.

11.

Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.

Rezaie T, Karimi-Nejad MH, Meshkat MR, Sohbati S, Karimi-Nejad R, Najmabadi H, Sarfarazi M.

Ophthalmic Genet. 2007 Dec;28(4):224-8.

PMID:
18161624
12.

Embryonic expression of the optineurin (glaucoma) gene in different stages of mouse development.

Rezaie T, Stoilov I, Sarfarazi M.

Mol Vis. 2007 Aug 27;13:1446-50.

PMID:
17893645
13.

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MA, Zareei R, Jabbarvand M, Abdolahi A, Lasheyee AR, Etemadi A, Bayat B, Sadeghi M, Banoei MM, Ghafarzadeh B, Rohani MR, Rismanchian A, Thorstenson Y, Sarfarazi M.

J Mol Diagn. 2007 Jul;9(3):382-93.

14.

Genotype and phenotype correlations in congenital glaucoma.

Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA.

Trans Am Ophthalmol Soc. 2006;104:183-95.

15.

Cyp1b1 protein in the mouse eye during development: an immunohistochemical study.

Choudhary D, Jansson I, Rezaul K, Han DK, Sarfarazi M, Schenkman JB.

Drug Metab Dispos. 2007 Jun;35(6):987-94. Epub 2007 Feb 26.

PMID:
17325023
16.

A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.

Suriyapperuma SP, Child A, Desai T, Brice G, Kerr A, Crick RP, Sarfarazi M.

Arch Ophthalmol. 2007 Jan;125(1):86-92.

PMID:
17210857
17.

Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.

Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA.

Am J Ophthalmol. 2006 Dec;142(6):993-1004. Epub 2006 Sep 1.

PMID:
17157584
18.

The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this region.

Kramer PL, Samples JR, Monemi S, Sykes R, Sarfarazi M, Wirtz MK.

Arch Ophthalmol. 2006 Sep;124(9):1328-31.

PMID:
16966629
19.

Physiological significance and expression of P450s in the developing eye.

Choudhary D, Jansson I, Sarfarazi M, Schenkman JB.

Drug Metab Rev. 2006;38(1-2):337-52. Review.

PMID:
16684663
20.

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.

Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, Brice G, Bhattacharya SS, Lehmann OJ, Sarfarazi M, Hitchings RA.

Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2816-22.

21.

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.

Jansson M, Wadelius C, Rezaie T, Sarfarazi M.

Ophthalmic Genet. 2005 Jun;26(2):85-9.

PMID:
16020311
22.

Molecular cloning and expression profiling of optineurin in the rhesus monkey.

Rezaie T, Waitzman DM, Seeman JL, Kaufman PL, Sarfarazi M.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2404-10.

PMID:
15980228
23.

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S.

Hum Genet. 2005 Jul;117(2-3):238-42. Epub 2005 May 20.

PMID:
15906099
24.

Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues.

Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB.

Arch Biochem Biophys. 2005 Apr 1;436(1):50-61.

PMID:
15752708
25.

Milroy disease and the VEGFR-3 mutation phenotype.

Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P.

J Med Genet. 2005 Feb;42(2):98-102. Review.

26.

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A, Sarfarazi M.

Hum Mol Genet. 2005 Mar 15;14(6):725-33. Epub 2005 Jan 27.

PMID:
15677485
27.

Molecular cloning, genomic structure, and protein characterization of mouse optineurin.

Rezaie T, Sarfarazi M.

Genomics. 2005 Jan;85(1):131-8.

PMID:
15607428
28.

Xenobiotic-metabolizing cytochromes P450 in ontogeny: evolving perspective.

Choudhary D, Jansson I, Sarfarazi M, Schenkman JB.

Drug Metab Rev. 2004 Oct;36(3-4):549-68. Review.

PMID:
15554235
29.

Expression of cytochrome P4501b1 (Cyp1b1) during early murine development.

Stoilov I, Rezaie T, Jansson I, Schenkman JB, Sarfarazi M.

Mol Vis. 2004 Aug 30;10:629-36.

30.

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

Willoughby CE, Chan LL, Herd S, Billingsley G, Noordeh N, Levin AV, Buys Y, Trope G, Sarfarazi M, Héon E.

Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3122-30.

PMID:
15326130
31.

Metabolism of retinoids and arachidonic acid by human and mouse cytochrome P450 1b1.

Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB.

Drug Metab Dispos. 2004 Aug;32(8):840-7.

PMID:
15258110
32.

Genetics and biochemistry of primary congenital glaucoma.

Sarfarazi M, Stoilov I, Schenkman JB.

Ophthalmol Clin North Am. 2003 Dec;16(4):543-54, vi. Review.

PMID:
14740995
33.

Optineurin in primary open angle glaucoma.

Sarfarazi M, Rezaie T.

Ophthalmol Clin North Am. 2003 Dec;16(4):529-41. Review.

PMID:
14740994
34.

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH.

J Med Genet. 2003 Sep;40(9):697-703. No abstract available.

35.

Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues.

Choudhary D, Jansson I, Schenkman JB, Sarfarazi M, Stoilov I.

Arch Biochem Biophys. 2003 Jun 1;414(1):91-100.

PMID:
12745259
36.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA.

J Med Genet. 2002 Jul;39(7):478-83.

37.

Molecular genetics of primary congenital glaucoma in Brazil.

Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7.

PMID:
12036985
38.

Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M.

Science. 2002 Feb 8;295(5557):1077-9.

39.

Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism.

Jansson I, Stoilov I, Sarfarazi M, Schenkman JB.

Pharmacogenetics. 2001 Dec;11(9):793-801.

PMID:
11740343
40.

Roles of cytochrome p450 in development.

Stoilov I, Jansson I, Sarfarazi M, Schenkman JB.

Drug Metabol Drug Interact. 2001;18(1):33-55. Review.

PMID:
11522124
41.

Molecular genetics of primary congenital glaucoma.

Sarfarazi M, Stoilov I.

Eye (Lond). 2000 Jun;14 ( Pt 3B):422-8. Review.

PMID:
11026969
42.

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR.

Nat Genet. 2000 Aug;25(4):397-401.

PMID:
10932181
43.

Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome.

Malchoff CD, Sarfarazi M, Tendler B, Forouhar F, Whalen G, Joshi V, Arnold A, Malchoff DM.

J Clin Endocrinol Metab. 2000 May;85(5):1758-64.

PMID:
10843148
44.

Enhanced expression of CYP1B1 in Escherichia coli.

Jansson I, Stoilov I, Sarfarazi M, Schenkman JB.

Toxicology. 2000 Apr 3;144(1-3):211-9.

PMID:
10781890
45.

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

Sotirova VN, Rezaie TM, Khoshsorour MM, Sarfarazi M.

Ophthalmic Genet. 2000 Mar;21(1):25-8.

PMID:
10779847
46.

A gene for lymphedema-distichiasis maps to 16q24.3.

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S.

Am J Hum Genet. 1999 Aug;65(2):427-32.

48.

Visual event related potentials modulated by contextually relevant and irrelevant olfactory primes.

Sarfarazi M, Cave B, Richardson A, Behan J, Sedgwick EM.

Chem Senses. 1999 Apr;24(2):145-54.

PMID:
10321815
49.

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

Plásilová M, Stoilov I, Sarfarazi M, Kádasi L, Feráková E, Ferák V.

J Med Genet. 1999 Apr;36(4):290-4.

50.

Cause of primary congenital lymphedema.

Child AH, Beninson J, Sarfarazi M.

Angiology. 1999 Apr;50(4):325-6. No abstract available.

PMID:
10225468

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