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Items: 1 to 20 of 150

1.

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L.

Am J Med Genet. 1994 Mar 1;50(1):32-8.

PMID:
8160750
2.

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

Tsilou ET, Rubin BI, Caruso RC, Reed GF, Pikus A, Hejtmancik JF, Iwata F, Redman JB, Kaiser-Kupfer MI.

Acta Ophthalmol Scand. 2002 Apr;80(2):196-201.

3.

[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW.

Ned Tijdschr Geneeskd. 2002 Dec 7;146(49):2354-8. Review. Dutch.

PMID:
12510399
4.

Early diagnosis of Usher syndrome in children.

Mets MB, Young NM, Pass A, Lasky JB.

Trans Am Ophthalmol Soc. 2000;98:237-42; discussion 243-5.

5.

[Molecular updates on Usher syndrome].

Roux AF.

J Fr Ophtalmol. 2005 Jan;28(1):93-7. Review. French.

6.

Clinical and molecular genetics of Usher syndrome.

Kimberling WJ, Möller C.

J Am Acad Audiol. 1995 Jan;6(1):63-72.

PMID:
7696679
7.

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM.

Clin Genet. 2004 Dec;66(6):525-9.

PMID:
15521980
8.

Evidence for a fourth locus in Usher syndrome type I.

Gerber S, Larget-Piet D, Rozet JM, Bonneau D, Mathieu M, Der Kaloustian V, Munnich A, Kaplan J.

J Med Genet. 1996 Jan;33(1):77-9.

9.
10.

Genetic heterogeneity in Usher syndrome.

Keats BJ, Savas S.

Am J Med Genet A. 2004 Sep 15;130A(1):13-6. Review.

PMID:
15368488
11.

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

Trop I, Schloss MD, Polomeno R, Der Kaloustian V.

J Otolaryngol. 1995 Apr;24(2):102-4.

PMID:
7602669
12.

Clinical presentation of DFNB12 and Usher syndrome type 1D.

Bork JM, Morell RJ, Khan S, Riazuddin S, Wilcox ER, Friedman TB, Griffith AJ.

Adv Otorhinolaryngol. 2002;61:145-52. No abstract available.

PMID:
12408077
13.
14.

Comparative study of visual, auditory, and olfactory function in Usher syndrome.

Seeliger M, Pfister M, Gendo K, Paasch S, Apfelstedt-Sylla E, Plinkert P, Zenner HP, Zrenner E.

Graefes Arch Clin Exp Ophthalmol. 1999 Apr;237(4):301-7.

PMID:
10208263
15.

Usher syndrome: clinical findings and gene localization studies.

Kimberling WJ, Möller CG, Davenport SL, Lund G, Grissom TJ, Priluck I, White V, Weston MD, Biscone-Halterman K, Brookhouser PE.

Laryngoscope. 1989 Jan;99(1):66-72.

PMID:
2562904
16.

Early diagnosis of Usher syndrome in infants and children.

Young NM, Mets MB, Hain TC.

Am J Otol. 1996 Jan;17(1):30-4.

PMID:
8694131
17.

Gene mapping of the Usher syndromes.

Kimberling W, Smith RJ.

Otolaryngol Clin North Am. 1992 Oct;25(5):923-34. Review.

PMID:
1408196
18.

Ophthalmologic findings in Usher syndrome type 2A.

Van Aarem A, Wagenaar M, Pinckers AJ, Huygen PL, Bleeker-Wagemakers EM, Kimberling BJ, Cremers CW.

Ophthalmic Genet. 1995 Dec;16(4):151-8.

PMID:
8749051
19.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ.

J Med Genet. 2003 Oct;40(10):767-72. No abstract available.

20.

Usher syndrome: results of a screening program in Colombia.

Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, Rodriguez V, Uribe JI, Silva JC.

Clin Genet. 1991 Oct;40(4):304-11.

PMID:
1756603

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