Introduction: Patents, whose children have a hearing impairment, often want to know the reason for that - especially when family planning has not been finished.Methods: In 25 children with hearing impairment caused by the inner ear problems DNA, recoverd from buccal smears, was used for genetic testing for mutaions in the GJB2 gene, that encodes Cx26 and Cx30.Results: In 8 of the 25 children a genetic source of the hearing impairment could be found. In 2 childern a digenic reason and in 6 children a Cx26 muation in both allels (autosomal recessiv) could been diagnosed. We found that in non-syndromic hearing impairment the hearing loss can vary very much.Conclusion: Buccal smears are suitable for genetic testings of mutations in the GJB2-gen...
hearing loss is one of the most common disabilities and has lifelong consequences for affected child...
SummaryAimrecent progresses in molecular biology have been made in the diagnosis of sensorineural he...
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of thes...
Summary: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation...
Hintergrund: Schwerhörigkeit ist eine weit verbreitete Erkrankung und kann sich in jedem Alter manif...
Einleitung: Zumindest 50% aller konnatalen Schwerhörigkeiten sind genetisch bedingt. Mutationen im ...
Hearing loss is one of the most common sensory deficits. It carries severe medical and social conseq...
Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment wit...
Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hea...
Verschiedene Forschungsergebnisse der letzten zehn Jahre ergaben, dass die weitaus häufigeren, nicht...
Introduction: Mutations of connexin genes account for up to 50% of prelingual bilateral sensorineur...
OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by h...
© The Author(s) 2019. Over the past two decades, significant technological advances have facilitated...
OBJECTIVE: The advent of universal newborn hearing screening in the United States and other countrie...
AbstractObjectiveTo determine whether a new-born child from a family carrying a deafness gene needs ...
hearing loss is one of the most common disabilities and has lifelong consequences for affected child...
SummaryAimrecent progresses in molecular biology have been made in the diagnosis of sensorineural he...
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of thes...
Summary: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation...
Hintergrund: Schwerhörigkeit ist eine weit verbreitete Erkrankung und kann sich in jedem Alter manif...
Einleitung: Zumindest 50% aller konnatalen Schwerhörigkeiten sind genetisch bedingt. Mutationen im ...
Hearing loss is one of the most common sensory deficits. It carries severe medical and social conseq...
Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment wit...
Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hea...
Verschiedene Forschungsergebnisse der letzten zehn Jahre ergaben, dass die weitaus häufigeren, nicht...
Introduction: Mutations of connexin genes account for up to 50% of prelingual bilateral sensorineur...
OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by h...
© The Author(s) 2019. Over the past two decades, significant technological advances have facilitated...
OBJECTIVE: The advent of universal newborn hearing screening in the United States and other countrie...
AbstractObjectiveTo determine whether a new-born child from a family carrying a deafness gene needs ...
hearing loss is one of the most common disabilities and has lifelong consequences for affected child...
SummaryAimrecent progresses in molecular biology have been made in the diagnosis of sensorineural he...
Objective: Hereditary Hearing loss (HHL) affects one in 1000-2000 newborns and more than 50% of thes...