Results 11 to 20 of about 9,773 (106)

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics. [PDF]

Mol Med
Abstract Background Hearing loss (HL) is one of the most common congenital conditions and exhibits substantial clinical and genetic heterogeneity. More than 150 genes are associated with non-syndromic hearing loss (NSHL), while over 600 genes are linked to syndromic hearing loss (SHL ...
Koparir A, Carbajal PB, Zamini M, Naghinejad M, Najarzadeh Torbati P, Hofrichter MAH, Tovornik S, Koparir E, Dragicevic Babic N, Rad A, Owrang D, Kalay I, Chamanrou N, Martínez Völter LN, Christophersen N, Baranzehi T, Rajati M, Loum S, Kunstmann E, Shadab M, Abbasi AA, Doosti M, Alidadiani N, Ghaderi S, Haack TB, Alavi S, Doll J, Kremer H, Kordi-Tamandani DM, Murphy D, Mohammad R, Hebestreit H, Ghayoor Karimiani E, Flandin S, Linares P, Villalobos D, Houlden H, Galehdari H, Shehata-Dieler W, Maroofian R, Haaf T, Vona B.   +41 more
europepmc   +6 more sources

Genetics of non syndromic hearing loss [PDF]

Medical Journal Armed Forces India, 2015
Non Syndromic Hearing Loss is an important cause for hearing loss. One in 1000 newborns have some hearing impairment. Over 400 genetic syndromes have been described. Non Syndromic Hearing Loss (NSHL) can be inherited in an Autosomal Dominant, Autosomal Recessive or a Sex Linked fashion.
M D, Venkatesh, Nikhil, Moorchung, Bipin, Puri   +2 more
openaire   +2 more sources

Genetics of non Syndromic Hearing Loss in the Republic of Macedonia [PDF]

Balkan Journal of Medical Genetics, 2012
ABSTRACT Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent
Sukarova Stefanovska Emilija, Plaseska Karanfilska D, Cakar M, Filipce I   +3 more
openaire   +3 more sources

Genetic etiology of non-syndromic hearing loss in Europe

Human Genetics, 2022
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. The frequency of mutations in each gene and the most frequent mutations vary throughout populations.
Ignacio del Castillo, Matías Morín, María Domínguez-Ruiz, Miguel A. Moreno-Pelayo   +3 more
openaire   +3 more sources

Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. [PDF]

Iran J Public Health
Background: Hearing loss is the second most common disease after mental retardation in Iran. Autosomal recessive non-syndromic hearing loss (ARNSHL) is an extreme and highly heterogeneous disease, for which more than 70 genes have been identified. Considering the frequency of family marriage as well as the importance of ARNSHL in Iran, we evaluated the
Naddafnia H, Noormohammadi Z, Irani S, Salahshoorifar I.   +3 more
europepmc   +3 more sources

Gene-Polymorphism in Non - Syndromic Hearing Loss: A Systematic Review. [PDF]

Indian J Otolaryngol Head Neck Surg
Hearing loss that happens alone, without other related physical or developmental issues, is known as non-syndromic hearing loss (NSHL). About 70% of instances of hereditary hearing impairment are of this kind, making it the most prevalent type of genetic hearing loss.
Balunathan N, Nair SS, Kumar SR.
europepmc   +4 more sources

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss. [PDF]

Front Pediatr, 2022
BackgroundDeafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL).ObjectivesTo identify clinically relevant gene variants associated with NSHL in a Chinese family using trio-based whole-exome sequencing (WES).Materials and ...
Liang J, Yu Z, Wang Z, Chen J, Liu Y, Yin Z, Xu R.   +6 more
europepmc   +4 more sources

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families [PDF]

Genes, 2020
The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL.
Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan, Naseer Ahmad, Susanne M. Kolb, Laura Kühlewein, Jonathan D. J. Labonne, Lawrence C. Layman, Michaela A. H. Hofrichter, Tabea Röder, Marcus Dittrich, Tobias Müller, Tyler D. Graves, Il-Keun Kong, Indrajit Nanda, Hyung-Goo Kim, Thomas Haaf   +23 more
openaire   +4 more sources

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans [PDF]

Human Genetics, 2021
Abstract Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A. Dunbar, Reza Maroofian, Hela Azaiez, Kevin T. Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N. Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J. H. Smith, Thomas Haaf, Aziz El-Amraoui, Michael R. Bowl, Gaurav K. Varshney, Hamid Galehdari   +25 more
openaire   +4 more sources

Research of genetic bases of hereditary non-syndromic hearing loss [PDF]

Türk Pediatri Arşivi, 2017
Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families.Twenty ...
ÇARKIT, Fehime, ERKAN, Mustafa, Tekin, Mustafa, Subasioglu, Aslı, Duman, Duygu, Sirmaci, Asli, SOMDAŞ, Mehmet Akif, Bademci, Guney, DÜNDAR, Munis   +8 more
openaire   +3 more sources