Analiza przyczyn uszkodzeń słuchu w świetle diagnostyki molekularnej głuchoty.

E. Nowakowska-Szyrwinska; L. Sobieszczanska-Radoszewska; E. Matejuk-Studzinska; W. Wiszniewski; E. Obersztyn; J. Bal

Analiza przyczyn uszkodzeń słuchu w świetle diagnostyki molekularnej głuchoty.

Translated title of the contribution: Analysis of hearing impairment causes in molecular diagnosis of deafness

E. Nowakowska-Szyrwinska, L. Sobieszczanska-Radoszewska, E. Matejuk-Studzinska, W. Wiszniewski, E. Obersztyn, J. Bal

Research output: Contribution to journal › Article › peer-review

Abstract

Deafness is one of the most frequent congenital hearing impairments. Knowledge of its causes will result in elimination of risk factors and applying prophylactic activities. It is recognized that about 40% of hearing impairments have genetic origin and 80% of these are autosomal recessive. Introducing molecular diagnosis to medical practice makes precise identification of hearing impairment and genetic counseling possible. The authors present results of DNA examination in patients with hereditary deafness, performed at the National Research Institute of Mother and Child in Warsaw. Genetic cause of deafness was confirmed in 60% cases.

Translated title of the contribution	Analysis of hearing impairment causes in molecular diagnosis of deafness
Original language	Polish
Pages (from-to)	135-140
Number of pages	6
Journal	Medycyna wieku rozwojowego
Volume	5
Issue number	2
State	Published - 2001
Externally published	Yes

ASJC Scopus subject areas

General Medicine

Cite this

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AU - Nowakowska-Szyrwinska, E.

AU - Sobieszczanska-Radoszewska, L.

AU - Matejuk-Studzinska, E.

AU - Wiszniewski, W.

AU - Obersztyn, E.

AU - Bal, J.

PY - 2001

Y1 - 2001

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AB - Deafness is one of the most frequent congenital hearing impairments. Knowledge of its causes will result in elimination of risk factors and applying prophylactic activities. It is recognized that about 40% of hearing impairments have genetic origin and 80% of these are autosomal recessive. Introducing molecular diagnosis to medical practice makes precise identification of hearing impairment and genetic counseling possible. The authors present results of DNA examination in patients with hereditary deafness, performed at the National Research Institute of Mother and Child in Warsaw. Genetic cause of deafness was confirmed in 60% cases.

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Analiza przyczyn uszkodzeń słuchu w świetle diagnostyki molekularnej głuchoty.

Abstract

ASJC Scopus subject areas

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