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Association of Bone Morphogenetic Proteins With Otosclerosis
We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case‐control sets. We found significant association in both populations with BMP2 andExpand
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The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown, otosclerosis can beExpand
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Single‐nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis
Otosclerosis (MIM 166800) has a prevalence of 0.2–1% among white adults, making it the single most common cause of hearing impairment in this ethnic group. Although measles virus, hormones, humanExpand
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A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
Otosclerosis is a common form of progressive hearing loss, characterized by abnormal bone remodeling in the otic capsule. The etiology of the disease is largely unknown, and both environmental andExpand
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A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9
Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3–0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases,Expand
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A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24
Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer toExpand
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Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations
Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In aExpand
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A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1
Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3–0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of theExpand
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No Evidence for Association Between the Renin-Angiotensin-Aldosterone System and Otosclerosis in a Large Belgian-Dutch Population
Hypothesis/Background: Otosclerosis is a frequent cause of hearing impairment in the Caucasian population and is characterized by abnormal bone remodeling of the otic capsule. Associations withExpand
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Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
OBJECTIVE The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and to perform genetic linkageExpand
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