Mardin C - Search Results

1

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Chavarria-Soley G, et al. Among authors: mardin c. J Glaucoma. 2006 Dec;15(6):499-504. doi: 10.1097/01.ijg.0000243467.28590.6a. J Glaucoma. 2006. PMID: 17106362

2

Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.

Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann GO, Pfeiffer RA, Rautenstrauss BW. Michels-Rautenstrauss KG, et al. Among authors: mardin cy. Hum Genet. 1998 Jan;102(1):103-6. doi: 10.1007/s004390050661. Hum Genet. 1998. PMID: 9490287

3

A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma.

Mardin CY, Velten I, Ozbey S, Rautenstrauss B, Michels-Rautenstrauss K. Mardin CY, et al. J Glaucoma. 1999 Apr;8(2):154-6. doi: 10.1097/00061198-199904000-00012. J Glaucoma. 1999. PMID: 10209734

4

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.

Michels-Rautenstrauss KG, Mardin CY, Zenker M, Jordan N, Gusek-Schneider GC, Rautenstrauss BW. Michels-Rautenstrauss KG, et al. Among authors: mardin cy. J Glaucoma. 2001 Aug;10(4):354-7. doi: 10.1097/00061198-200108000-00017. J Glaucoma. 2001. PMID: 11558822

5

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Michels-Rautenstrauss K, Mardin C, Wakili N, Jünemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Ozbey S, Naumann GO, Reis A, Rautenstrauss B. Michels-Rautenstrauss K, et al. Among authors: mardin c. Hum Mutat. 2002 Dec;20(6):479-80. doi: 10.1002/humu.9092. Hum Mutat. 2002. PMID: 12442283

6

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.

Soley GC, Bosse KA, Flikier D, Flikier P, Azofeifa J, Mardin CY, Reis A, Michels-Rautenstrauss KG, Rautenstrauss BW. Soley GC, et al. J Glaucoma. 2003 Feb;12(1):27-30. doi: 10.1097/00061198-200302000-00005. J Glaucoma. 2003. PMID: 12567107

7

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, Bejjani B, Winters DL, Lewis RA, Mardin C, Reis A, Rautenstrauss B. Chavarria-Soley G, et al. Among authors: mardin c. Mol Vis. 2006 May 22;12:523-31. Mol Vis. 2006. PMID: 16735994 Free article.

8

Improving glaucoma diagnosis by the combination of perimetry and HRT measurements.

Mardin CY, Peters A, Horn F, Jünemann AG, Lausen B. Mardin CY, et al. J Glaucoma. 2006 Aug;15(4):299-305. doi: 10.1097/01.ijg.0000212232.03664.ee. J Glaucoma. 2006. PMID: 16865006

9

Quantification of neuroretinal rim loss using digital planimetry in long-term follow-up of normals and patients with ocular hypertension.

Laemmer R, Schroeder S, Martus P, Viestenz A, Mardin CY. Laemmer R, et al. J Glaucoma. 2007 Aug;16(5):430-6. doi: 10.1097/IJG.0b013e31804a5e80. J Glaucoma. 2007. PMID: 17700284

10

Profiling of WDR36 missense variants in German patients with glaucoma.

Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, Reis A. Pasutto F, et al. Invest Ophthalmol Vis Sci. 2008 Jan;49(1):270-4. doi: 10.1167/iovs.07-0500. Invest Ophthalmol Vis Sci. 2008. PMID: 18172102 Free article.

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