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Waardenburg Syndrome Type 1
Known as:
WS1
, Waardenburg's Syndrome Type 1
, WAARDENBURG SYNDROME, TYPE 1
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A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner…
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National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal dominant inheritance
Blepharophimosis
Class III malocclusion
Cleft palate with cleft lip
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Broader (1)
Waardenburg Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Discovery of two new Galactic candidate luminous blue variables with WISE
V. Gvaramadze
,
A. Kniazev
,
+28 authors
A. Lacluyze
2012
Corpus ID: 7905464
We report the discovery of two new Galactic candidate luminous blue variable (cLBV) stars via detection of circular shells…
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2008
2008
Reliability of Surgical Skills Scores in Otolaryngology Residents
Soledad A. Fernandez
,
G. Wiet
,
N. Butler
,
B. Welling
,
D. Jarjoura
Evaluation & the Health Professions
2008
Corpus ID: 23212261
Assessments of temporal bone dissection performance among otolaryngology residents have not been adequately developed. At the…
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Review
2006
Review
2006
Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review
H. Pau
,
W. Gibson
,
K. Gardner-Berry
,
H. Sanli
Cochlear Implants International
2006
Corpus ID: 25991824
Abstract Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white…
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2005
2005
A General Framework for Web Services and Grid-Based Technologies for Online Laboratories
H. Saliah-Hassane
,
D. Benslimane
,
+5 authors
Yuhong Yan
2005
Corpus ID: 15592000
The combination of Web Services and grid-computing technologies is curre ntly of a major scientific revolution. It combines the…
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2003
2003
Lipid peroxidation-derived cytotoxic aldehyde, 4-hydroxy-2-nonenal in smoked pork.
D. Munasinghe
,
K. Ichimaru
,
T. Matsui
,
K. Sugamoto
,
T. Sakai
Meat Science
2003
Corpus ID: 10325476
1996
1996
Genotype‐Phenotype Correlations in Type 1 Waardenburg Syndrome
A. Lalwani
,
A. Mhatre
,
T. S. San Agustin
,
E. Wilcox
The Laryngoscope
1996
Corpus ID: 36606453
Type 1 Waardenburg syndrome (WS1) is an autosomal dominant disorder characterized by dystopia canthorum, sensorineural deafness…
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Highly Cited
1994
Highly Cited
1994
Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Lindsay A. Farrer
,
K. Arnos
,
+20 authors
Andrew P. Read
American Journal of Human Genetics
1994
Corpus ID: 37788691
Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and…
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1991
1991
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
J. H. Asher
,
R. Morell
,
T. Friedman
American Journal of Human Genetics
1991
Corpus ID: 8720079
Waardenburg syndrome type I (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant mutation with variable penetrance and…
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Highly Cited
1989
Highly Cited
1989
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
S. Ishikiriyama
,
H. Tonoki
,
+4 authors
N. Niikawa
American journal of medical genetics
1989
Corpus ID: 41026823
We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has…
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1986
1986
A spontaneous mutant of Neisseria gonorrhoeae with decreased resistance to neutrophil granule proteins.
W. Shafer
,
V. Onunka
,
P. Hitchcock
Journal of Infectious Diseases
1986
Corpus ID: 43791712
We examined the resistance of Neisseria gonorrhoeae to proteins prepared from the granules of human polymorphonuclear neutrophils…
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