Clinical diagnosis of the Usher syndromes

R. J.H. Smith, C. I. Berlin, J. F. Hejtmancik, B. J.B. Keats, William J Kimberling, R. A. Lewis, C. G. Moller, M. Z. Pelias, L. Tranebjaerg

Research output: Contribution to journalArticle

236 Citations (Scopus)

Abstract

The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

Original languageEnglish (US)
Pages (from-to)32-38
Number of pages7
JournalAmerican journal of medical genetics
Volume50
Issue number1
DOIs
StatePublished - Jan 1 1994

Fingerprint

Usher Syndromes

Keywords

  • Usher syndrome type I
  • Usher syndrome type II

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., ... Tranebjaerg, L. (1994). Clinical diagnosis of the Usher syndromes. American journal of medical genetics, 50(1), 32-38. https://doi.org/10.1002/ajmg.1320500107

Clinical diagnosis of the Usher syndromes. / Smith, R. J.H.; Berlin, C. I.; Hejtmancik, J. F.; Keats, B. J.B.; Kimberling, William J; Lewis, R. A.; Moller, C. G.; Pelias, M. Z.; Tranebjaerg, L.

In: American journal of medical genetics, Vol. 50, No. 1, 01.01.1994, p. 32-38.

Research output: Contribution to journalArticle

Smith, RJH, Berlin, CI, Hejtmancik, JF, Keats, BJB, Kimberling, WJ, Lewis, RA, Moller, CG, Pelias, MZ & Tranebjaerg, L 1994, 'Clinical diagnosis of the Usher syndromes', American journal of medical genetics, vol. 50, no. 1, pp. 32-38. https://doi.org/10.1002/ajmg.1320500107
Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA et al. Clinical diagnosis of the Usher syndromes. American journal of medical genetics. 1994 Jan 1;50(1):32-38. https://doi.org/10.1002/ajmg.1320500107
Smith, R. J.H. ; Berlin, C. I. ; Hejtmancik, J. F. ; Keats, B. J.B. ; Kimberling, William J ; Lewis, R. A. ; Moller, C. G. ; Pelias, M. Z. ; Tranebjaerg, L. / Clinical diagnosis of the Usher syndromes. In: American journal of medical genetics. 1994 ; Vol. 50, No. 1. pp. 32-38.
@article{b9fbe0650645490b9cbf1cdef3bacf34,
title = "Clinical diagnosis of the Usher syndromes",
abstract = "The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.",
keywords = "Usher syndrome type I, Usher syndrome type II",
author = "Smith, {R. J.H.} and Berlin, {C. I.} and Hejtmancik, {J. F.} and Keats, {B. J.B.} and Kimberling, {William J} and Lewis, {R. A.} and Moller, {C. G.} and Pelias, {M. Z.} and L. Tranebjaerg",
year = "1994",
month = "1",
day = "1",
doi = "10.1002/ajmg.1320500107",
language = "English (US)",
volume = "50",
pages = "32--38",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Clinical diagnosis of the Usher syndromes

AU - Smith, R. J.H.

AU - Berlin, C. I.

AU - Hejtmancik, J. F.

AU - Keats, B. J.B.

AU - Kimberling, William J

AU - Lewis, R. A.

AU - Moller, C. G.

AU - Pelias, M. Z.

AU - Tranebjaerg, L.

PY - 1994/1/1

Y1 - 1994/1/1

N2 - The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

AB - The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

KW - Usher syndrome type I

KW - Usher syndrome type II

UR - http://www.scopus.com/inward/record.url?scp=0028295151&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028295151&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320500107

DO - 10.1002/ajmg.1320500107

M3 - Article

VL - 50

SP - 32

EP - 38

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -