Results 201 to 210 of about 2,252,434 (232)

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct

The Laryngoscope
To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA).
Bo-xiang Zhuang, Haiqiao Du, Chenyu Chen, Menghua Li, Shuoshuo Kang, Qian Wang, Shuwei Wang, Weiwei Guo, Chang Lin, Jianan Li, Shiming Yang, Rong Wang   +11 more
semanticscholar   +1 more source

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

The Laryngoscope, 2019
To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA ...
K. Mey, Ali A Muhamad, L. Tranebjaerg, N. D. Rendtorff, Stig Rasmussen, M. Bille, P. Cayé-Thomasen   +6 more
semanticscholar   +1 more source

Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant

Annals of Otology, Rhinology and Laryngology
Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings
Yung-Hsuan Chen, Wei-Che Lin, Chung-Feng Hwang, Meng-Han Tsai, Chao-Hui Yang   +4 more
semanticscholar   +1 more source

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

Otology and Neurotology, 2019
INTRODUCTION The aim was to investigate the progress of hearing loss over time in a cohort of pendred syndrome and non-syndromic enlarged vestibular aqueduct (PS/NSEVA) with one or two confirmed pathogenic variations in SLC26A4.
K. Mey, M. Bille, Stig Hebbelstrup Rye Rasmussen, L. Tranebjærg, P. Cayé-Thomasen   +4 more
semanticscholar   +1 more source

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct

Acta Oto-Laryngologica, 2019
Background: Children with Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (NSEVA) represent a group of pre-lingual hearing-impaired individuals with rehabilitation challenges. Objective: To evaluate receptive language capabilities in
K. Mey, L. Percy-Smith, Maria Hallstrøm, M. Sandvej, P. Cayé-Thomasen   +4 more
semanticscholar   +1 more source

Deafness, Hypothyroidism, and Pendred's Syndrome

Pediatrics, 1967
The recent case report of MacGillivray, et al. in Pediatrics nicely demonstrates the relationship of neonatal hyperbilirubinemia and congenital hypothyroidism and also points out the association of congenital hypothyroidism with deafness. Their patient, in addition to being jaundiced, apparently did not respond to loud auditory stimulation when ...
G J, Bargman, L I, Gardner
openaire   +2 more sources

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

International Journal of Audiology, 2019
Objective: Hearing loss (HL) is a common sensory deficit with high phenotypic and genotypic heterogeneity. A large Iranian family with HL was genetically assessed in this study.
Azam Pourahmadiyan, Paria Alipour, Najmeh. Fattahi, Mahbubeh Kasiri, F. Rezaeian, Afsaneh Taghipour‐Sheshdeh, J. Mohammadi-Asl, Mohammad Amin Tabatabaiefar, M. Hashemzadeh Chaleshtori   +8 more
semanticscholar   +1 more source

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

European Review for Medical and Pharmacological Sciences, 2023
Y-L Li, Feifei Gong, Zhen Dang, W. Xiong, M-d. Zhang, Y.-X. Wang, C-C Wang, Z. Jin   +7 more
semanticscholar   +1 more source

THYROIDAL IODOPROTEINS IN PENDRED'S SYNDROME

Journal of Endocrinology, 1974
Pendred's syndrome is characterized by familial goitre, nerve deafness and a partial release of radio-iodine from the thyroid on perchlorate administration. This last was thought to be due to impaired activity of peroxidase enzymes or to some abnormality of receptor proteins where iodination occurs.
K B, Desai, M N, Mehta, M C, Patel, L, Ramanna, R D, Ganatra   +4 more
openaire   +2 more sources

Cochlear implantation in Pendred syndrome

Cochlear Implants International, 2011
The objective of this study was to examine the anatomical, audiological, and surgical factors that can affect the hearing outcome in Pendred syndrome cochlear implant recipients. Patients with Pendred syndrome represent challenging cochlear implant candidates, combining goiter, severe-to-profound hearing loss, and inner-ear dysplasias.
Georgios, Kontorinis, Thomas, Lenarz, Anke, Lesinski-Schiedat, Juergen, Neuburger   +3 more
openaire   +2 more sources