Maumenee IH - Search Results

1

Unilateral isolated microphthalmia inherited as an autosomal recessive trait.

Fleckenstein M, Maumenee IH. Fleckenstein M, et al. Among authors: maumenee ih. Ophthalmic Genet. 2005 Dec;26(4):163-8. doi: 10.1080/13816810500468672. Ophthalmic Genet. 2005. PMID: 16352476

2

Posterior polar cataract: genetic analysis of a large family.

Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Finzi S, et al. Among authors: maumenee ih. Ophthalmic Genet. 2005 Sep;26(3):125-30. doi: 10.1080/13816810500229124. Ophthalmic Genet. 2005. PMID: 16272057

3

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.

Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA. Sundin OH, et al. Among authors: maumenee ih. Ophthalmic Genet. 2008 Mar;29(1):1-9. doi: 10.1080/13816810701651241. Ophthalmic Genet. 2008. PMID: 18363166 Free PMC article.

4

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts.

Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH. Bodker FS, et al. Among authors: maumenee ih. Am J Med Genet. 1990 Sep;37(1):54-9. doi: 10.1002/ajmg.1320370113. Am J Med Genet. 1990. PMID: 2240043

5

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O. Abouzeid H, et al. Among authors: maumenee ih. Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840. Ophthalmic Genet. 2006. PMID: 16543197

6

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH. Kerrison JB, et al. Among authors: maumenee ih. Ophthalmic Genet. 2001 Dec;22(4):241-8. doi: 10.1076/opge.22.4.241.2216. Ophthalmic Genet. 2001. PMID: 11803490

7

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. Silva E, et al. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

8

Congenital motor nystagmus linked to Xq26-q27.

Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Kerrison JB, et al. Among authors: maumenee ih. Am J Hum Genet. 1999 Feb;64(2):600-7. doi: 10.1086/302244. Am J Hum Genet. 1999. PMID: 9973299 Free PMC article.

9

Mutational analysis and clinical correlation in Leber congenital amaurosis.

Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: maumenee ih. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

10

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.

Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Zhu D, et al. Among authors: maumenee ih. Hum Genet. 1990 Nov;86(1):54-8. doi: 10.1007/BF00205172. Hum Genet. 1990. PMID: 1979306

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

169 results

Search Page