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Adult-onset Bartter syndrome type IV B with ACTH secreting pituitary microadenoma. [PDF]
Mathew GG.
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A Novel Mutation Located in the N-Terminal Domain of MYO15A Caused Sensorineural Hearing Loss. [PDF]
Wang Y+11 more
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Genetic Sensorineural Deafness in Adults
Annals of Otology, Rhinology & Laryngology, 1975Progressive genetic sensorineural hearing loss is a common problem in adults which is frequently incorrectly diagnosed or escapes diagnosis as to etiology altogether. If the hearing problem becomes manifest in the twilight of the patient's life it is often identified with the nondescriptive term “presbycusis.” In all patients with sensorineural ...
Rolf F. Ulvestad+3 more
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Familial Progressive Sensorineural Deafness
Archives of Otolaryngology - Head and Neck Surgery, 1969DEAFNESS resulting from genetic causes may be present at time of birth (congenital) or may develop subsequent to birth (acquired). In congenital deafness the end-or-gan of hearing may not develop in the first trimester (aplasia). It is also conceivable, but not proven, that a fully differentiated sense organ may degenerate during the second and third ...
Shigeru Sugiura+2 more
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Hereditary progressive sensorineural deafness
The Journal of Laryngology & Otology, 1976Progressive sensorineural hearing losses found in seven members of three families are presented. Genetic transmission patterns in the study appeared to be autosomal dominant in two families and recessive in one family. The common audiological features of these cases include bilaterally symmetrical audiometric configuration and fairly good speech ...
R. F. Naunton+3 more
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Unilateral Sensorineural Deafness in Children
Otolaryngology–Head and Neck Surgery, 1988Heredity, viral infection, and head or acoustic trauma are considered the common etiologies for a unilateral sensorineural deafness in children. The incidence of perilymphatic fistula in a unilateral hearing loss is still unknown. Inner ear‐related symptoms in children are scarce, and little diagnostic laboratory testing is available.
William H. Friedman, Izak H. Kielmovitch
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Human Nonsyndromic Sensorineural Deafness
Annual Review of Genomics and Human Genetics, 2003Given the unique biological requirements of sound transduction and the selective advantage conferred upon a species capable of sensitive sound detection, it is not surprising that up to 1% of the approximately 30,000 or more human genes are necessary for hearing. There are hundreds of monogenic disorders for which hearing loss is one manifestation of a
Thomas B. Friedman, Andrew J. Griffith
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Ocular albinism with sensorineural deafness
International Journal of Dermatology, 2004Ocular albinism (OA) is an inherited disorder characterized by partial or complete absence of pigment in the eyes. Ocular albinism is inherited in two patterns, X‐linked and autosomal pattern. X‐linked OA includes type I OA (Nettership‐Falls type), type II OA (Forsius‐Eriksson type), and OA with late‐onset sensorineural deafness.
Seong-Jun Seo+5 more
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Unilateral Nevus of Ota With Sensorineural Deafness
Archives of Dermatology, 1974A 43-year-old woman has extensive nevus of Ota associated with ipsilateral sensorineural deafness. She has unilateral pigmentary involvement of the upper portion of the face, palate, nasal ala, posterior portion of the concha auriculae, external ear canal, and tympanic membrane.
Gerald I. Sugarman, William B. Reed
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Electrocochleography (Ecog) In Sensorineural Deafness
Acta Oto-Laryngologica, 1975We examined 340 normal ears and cases of sensorineural deafness with electrocochleography using click stimuli (duration: 0.5 standard deviation of a population; repetition rate: plus or minus 10/sec; N=1 000, alternately positive and negative; analysis time: 31 standard deviation of a population).
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