Results 71 to 80 of about 12,592,373 (135)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Gene therapy for hereditary deafness: Progress, challenges and translational implications from OTOF to GJB2

Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
wiley   +1 more source

Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss

, 2006
Hearing loss is a common sensory deficit in humans. The hearing loss may be conductive, sensorineural, or mixed, syndromic or nonsyndromic, prelingual or postlingual.
ZAINAB BINTI AWANG NGAH
core  

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Спектр мутаций ядерного локуса DFNB1 у пациентов с несиндромальной СНТ, жителей Беларуси

Фактори експериментальної еволюції організмів, 2015
Aims. The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 locus is remarkable ...
О. А. Шубина-Олейник, М. Г. Синявская, А. М. Левая-Смоляк, Е. П. Меркулова, Н. Г. Даниленко   +4 more
doaj  

Expanding the Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in the Iranian Families [PDF]

Journal of Genetic Resources
Hearing loss is known as the most common sensory disorder in humans, with an incidence of 466 million people worldwide. This disorder is genetically highly heterogeneous, so among the 180 genes responsible for hearing loss, a disproportionate share of ...
Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji   +2 more
doaj   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss

, 2003
Autosomal recessive non-syndromic hearing loss is the most common form of inherited childhood deafness. Identification of the responsible gene in this type of hearing loss presents difficulties because of marked genetic heterogenicity and limited ...
Ardıç, Fazıl Necdet, Uyguner, O., Wollnik, B., Tepeli, E., Düzcan, F., Bağcı, Hüseyin.   +5 more
core  

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, Volume 117, Issue 4, Page 824-837, October 2026.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

BMC Medical Genomics
Background Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL).
Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan   +6 more
doaj   +1 more source