Stoilov IR - Search Results

1

Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Mihaylov VA, Horvath AD, Savov AS, Kurshelova EF, Paskaleva ID, Goudev AR, Stoilov IR, Ganev VS. Mihaylov VA, et al. Among authors: stoilov ir. J Hum Genet. 2004;49(4):173-176. doi: 10.1007/s10038-004-0127-6. Epub 2004 Mar 10. J Hum Genet. 2004. PMID: 15015036

2

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.

Stoilov I, Akarsu AN, Sarfarazi M. Stoilov I, et al. Hum Mol Genet. 1997 Apr;6(4):641-7. doi: 10.1093/hmg/6.4.641. Hum Mol Genet. 1997. PMID: 9097971

3

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.

Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. Akarsu AN, et al. Hum Mol Genet. 1996 Jul;5(7):945-52. doi: 10.1093/hmg/5.7.945. Hum Mol Genet. 1996. PMID: 8817328

4

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. Stoilov I, et al. Am J Hum Genet. 1998 Mar;62(3):573-84. doi: 10.1086/301764. Am J Hum Genet. 1998. PMID: 9497261 Free PMC article.

5

Molecular genetics of primary congenital glaucoma in Brazil.

Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Stoilov IR, et al. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7. Invest Ophthalmol Vis Sci. 2002. PMID: 12036985

6

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P. Stoilov I, et al. Am J Med Genet. 1995 Jan 2;55(1):127-33. doi: 10.1002/ajmg.1320550132. Am J Med Genet. 1995. PMID: 7702086

7

The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P. Velinov M, et al. Nat Genet. 1994 Mar;6(3):314-7. doi: 10.1038/ng0394-314. Nat Genet. 1994. PMID: 8012397

8

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. Plásilová M, et al. J Med Genet. 1999 Apr;36(4):290-4. J Med Genet. 1999. PMID: 10227395 Free PMC article.

9

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. Jansson I, et al. Pharmacogenetics. 2001 Dec;11(9):793-801. doi: 10.1097/00008571-200112000-00007. Pharmacogenetics. 2001. PMID: 11740343

10

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

Choudhary D, Jansson I, Schenkman JB, Sarfarazi M, Stoilov I. Choudhary D, et al. Arch Biochem Biophys. 2003 Jun 1;414(1):91-100. doi: 10.1016/s0003-9861(03)00174-7. Arch Biochem Biophys. 2003. PMID: 12745259

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