Polomeno R - Search Results

1

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: polomeno r. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.

2

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ. Wayne S, et al. Among authors: polomeno r. Hum Mol Genet. 1996 Oct;5(10):1689-92. doi: 10.1093/hmg/5.10.1689. Hum Mol Genet. 1996. PMID: 8894709

3

Usher syndrome in four siblings from a consanguineous family of Pakistani origin.

Trop I, Schloss MD, Polomeno R, Der Kaloustian V. Trop I, et al. Among authors: polomeno r. J Otolaryngol. 1995 Apr;24(2):102-4. J Otolaryngol. 1995. PMID: 7602669

4

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: polomeno rc. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

5

Autosomal recessive Duane's retraction syndrome.

Discepola MJ, Polomeno RC, Zeesman S, Kaplan P, Williams F. Discepola MJ, et al. Among authors: polomeno rc. Can J Ophthalmol. 1987 Dec;22(7):384-6. Can J Ophthalmol. 1987. PMID: 3435856

6

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

Hayes A, Costa T, Polomeno RC. Hayes A, et al. Among authors: polomeno rc. Am J Med Genet. 1985 Oct;22(2):273-80. doi: 10.1002/ajmg.1320220208. Am J Med Genet. 1985. PMID: 4050857

7

The importance of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.

Martow J, Polomeno RC, Lewandowski R, Daly D, Miller S, Jutras L, Koehn D, Der Kaloustian VM. Martow J, et al. Among authors: polomeno rc. Can J Ophthalmol. 1990 Oct;25(6):290-2. Can J Ophthalmol. 1990. PMID: 2174290

8

Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.

Polomeno RC, Zeesman S, MacDonald IM, Crozier DG, Tenniswood MP, Kaplan P. Polomeno RC, et al. Can J Ophthalmol. 1987 Feb;22(1):21-3. Can J Ophthalmol. 1987. PMID: 3815151

9

Traumatic disinsertion of the superior rectus.

Polomeno RC, Davis P, Williams FR. Polomeno RC, et al. Can J Ophthalmol. 1986 Aug;21(5):184-8. Can J Ophthalmol. 1986. PMID: 3756613

10

Unilateral congenital ptosis and amblyopia.

Beneish R, Williams F, Polomeno RC, Little JM, Ramsey B. Beneish R, et al. Among authors: polomeno rc. Can J Ophthalmol. 1983 Apr;18(3):127-30. Can J Ophthalmol. 1983. PMID: 6871790

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