Results 111 to 120 of about 12,592,373 (135)

GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness

Revista Finlay
Foundation: GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from.
Mercedes Arceo Álvarez, Estela Morales Peralta, Yuledmi Perdomo Chacón, Teresa Collazo Mesa   +3 more
doaj  

تجزیه و تحلیل پیوستگی ژنتیکی لوکوس‌های DFNB40 و DFNB48 در خانواده‌هایی با ناشنوایی غیر سندرمی مغلوب اتوزومی از استان‌های غربی کشور

مجله دانشکده پزشکی اصفهان, 2016
مقدمه: ناشنوایی حسی- عصبی، رایج‌ترین ناهنجاری عصبی است که با میانگین 1 در 1000-500 نوزاد رخ می‌دهد. موارد غیر سندرمی، 70 درصد ناشنوایی‌ها را شامل می‌شود که 80 درصد موارد، الگوی توارث مغلوب اتوزومی دارند.
Azam Pourahmadiyan, Mohammad Amin Tabatabaiefar, Somayeh Reiisi, Paria Alipour, Najmeh Fattahi, Morteza Hashemzadeh-Chaleshtori   +5 more
doaj  

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Studies of intercellular Ca2+ signaling and gap-junction coupling in the developing cochlea of mouse models affected by congenital hearing loss [PDF]

, 2013
Connexin 26 (Cx26) and connexin 30 (Cx30) form gap junction channels that allow the intercellular diffusion of the Ca2+ mobilizing second messenger IP3.
Rodriguez Hernandez, Laura
core  

Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey

The Turkish Journal of Pediatrics, 2005
Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians.
Burcu Balci, Filiz Ozbaş Gerçeker, Songül Aksoy, Gonca Sennaroğlu, Ersan Kalay, Levent Sennaroğlu, Pervin Dinçer   +6 more
doaj  

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6

, 1996
: Late-onset non-syndromic hearing impairment is the most common type of neurological dysfunction in the elderly. It can be either acquired or inherited, although the relative impact of heredity on this type of loss is not known.
Van Camp, G, Negrini, C, Ni, L., Sheffield, V., Wayne, S., Smith, RJH, Wilcox, E.R., ONeill, ME, Nishimura, D., Negrini, C., Van Laer, Lut, Wilcox, ER, Chen, A., Wayne, S, Chen, A, Marietta, J, Ni, L, O'Neill, M.E., Smith, R.J.H., Fukushima, K, Nishimura, D, Van Laer, LutGE02802000508678FC1D5768-F0ED-11E1-A9DE-61C894A0A6B4, Van Camp, Guy, Fukushima, K., Sheffield, VC, Marietta, J.   +25 more
core  

Linkage Analysis for 50 Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss for DFNB21 Locus

, 2006
Objective: Congenital hearing loss occurs in 1 out of 1000 births and about 50% of all cases are estimated to be of genetic origin. About 70% of hereditary hearing loss is non-syndromic with autosomal recessive inheritance accounting for 80% of the ...
Golnaz As'adi, Kimia Kahrizi, Fatemeh Sadat Esteghamat, Hossein Najm-Abadi, Niloufar Bazzaz-Zadegan, Parisa Imani-Raad, Noushin Nik-Zaat, Marzieh Mohseni   +7 more
core  

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review [PDF]

Biomedicines, 2023
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-
Salvatore Ferlito, Jérôme Lechien, Antonino Maniaci   +2 more
exaly   +2 more sources

Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades

Journal of Cellular and Molecular Medicine
Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in ...
Vijay Gupta, Barbara Vona, Ansar Abbasi   +2 more
exaly   +2 more sources