Results 51 to 60 of about 139 (86)

Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

, 2010
The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal ...
Yvonne J.K. Edwards, Duman, Duygu, Liu, Xue Z, Hilal Özdaḡ, Erbek, Seyra, Tokgöz-Yilmaz, Suna, Sırmacı, Aslı, Suna Tokgöz-Yilmaz, İncesulu, Armaḡan, OZTUKMEN-AKAY, Hatice, Cengiz, F. Basak, Edwards, Yvonne J. K., Edwards, Yvonne J.K, Armaḡan İncesulu, Özdaḡ, Hilal, Tekin, Mustafa, Sirmaci, Asli, Seyra Erbek, Xue Z. Liu, F. Basak Cengiz, Duygu Duman, Öztürkmen-Akay, Hatice, Liu, Xue Z., Aslı Sırmacı, Hatice Öztürkmen-Akay, Mustafa Tekin   +25 more
core   +1 more source

Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]

, 2010
Background and aim: The incidence of prelingual hearing loss (HL) is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 100 loci have been identified.
Tabatabaiefar, Mohammad Amin., Montazer Zohouri, Mostafa., Ghasemikhah, Reza., Shariati, Laleh., Ashrafi, Koorosh., Saffari-Chaleshtori, Javad., Farrokhi, Effat., Noori-Daloii, Mohammad Reza., Hashemzadeh-Chaleshtori, Morteza.   +8 more
core   +1 more source

MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

, 2017
Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairement (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant
Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Caylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Baserer, Nermin, Heister, Angelien J. G. A. M., Hennies, Hans C., Nürnberg, Peter, Basaran, Seher, Brunner, Han G., Cremers, Cor W. R. J., Karaguzel, Ahmet, Wollnik, Bernd, Kremer, Hannie   +17 more
openaire   +1 more source

Mutation analysis of GJB2 and GJB6 genes and screening of nine common dfnb loci in iranian pedigrees with autosomal recessive nonsyndromic hearing loss

, 2019
Background: Hearing loss (HL) is one of the most common sensory disorders (1/1000). Various studies have shown that a large proportion of autosomal recessive nonsyndromic HL (ARNSHL) in Iranian populations is caused by defects in a certain number of ...
Bahrami, Tayyeb, Koohiyan, Mahbobeh, Shirzad, Maryam, Farrokhi, Effat, Tabatabaiefar, MohammadAmin, Azadegan-Dehkordi, Fatemeh, Pourpaknia, Reza, Hashemzadeh-Chaleshtori, Morteza, Yazdanpanahi, Nasrin   +8 more
core   +1 more source

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

, 2008
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified.
PARDONO, Eliete, BATISSOCO, Ana C., LOPES, Juliana J., ABREU-SILVA, Ronaldo S., LEZIROVITZ, Karina, MINGRONI-NETTO, Regina C., SILVA, Fernando L. de Carvalho e, ROMANOS, Jihane, AURICCHIO, Maria T. B. de Mello   +8 more
core   +1 more source

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

, 2017
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of ...
Cucca, Francesco, Kindi, Mohammed Nasser Al, Oppo, Manuela, Benelli, Matteo, Al Khabori, Mazin, Romeo, G., Magi, Alberto, Al Wardy, N, GIANGREGORIO, TANIA, GNECCHI RUSCONE, GUIDO ALBERTO, Giangregorio, T, Palombo, Flavia, Girotto, G, Sazzini, M, Magi, A, Benelli, M, Gasparini, P, Palombo, F, Al Lamki, Khalsa, Seri, Marco, GIROTTO, GIORGIA, GASPARINI, PAOLO, Pippucci, T, Seri, M, Pippucci, Tommaso, Kindi, M. N. A, Ruscone, Guido Alberto Gnecchi, Angius, Andrea, Sazzini, Marco, Ruscone, G. A. G, Al Lamki, K, Al Khabori, M, ROMEO, GIOVANNI, Al Wardy, Nadia   +33 more
core   +1 more source

Mutation analysis of families with autosomal recessive nonsyndromic hearing loss linked to the MYO15A gene

, 2010
Congenital or prelingual hearing loss occurs approximately in one case per 1000 live births. Genetic causes are responsible in 50% of cases. Additional findings are present in 30% of cases, which are referred to as having syndromic deafness.
Cengiz, Filiz Başak
core  

Mapping of DFNB3/MYO15A in Punjabi families with non-syndromic congenital deafness.

Pure and Applied Biology, 2015
openaire   +1 more source

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

, 2021
Wollnik, Bernd, Nürnberg, Peter, Caylan, R, BAŞARAN, Seher, Hafız, Günter, Erdol, H, Kalay, Ersan, Cremers, Cor, Üzümcü, Abdullah, Karagüzel, ahmet, Heister, Angelian, UYGUNER, Zehra Oya, Krieger, E, Ulubil-Emiroğlu, Melike, Brunner, Han, KAYSERİLİ, Hülya, Kremer, Hannie, Başarer, Nermin, Hennies, Hans   +18 more
core  

Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2 [PDF]

American Journal of Human Genetics, 1998
The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Bengkala, Bali, was mapped to a approximately 12-cM interval on chromosome 17. New short tandem repeats (STRs) and additional DNA samples were used to identify recombinants that constrain the DFNB3 interval to less, similar6 cM on 17p11.2. Affected individuals from Bengkala
Sally A. Camper, Robert J. Morell, Thomas B. Friedman   +2 more
exaly   +5 more sources