Results 81 to 90 of about 1,143,125 (138)

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

, 1996
Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic).
Coffey, R, Beth Coyle, Britton, K, Marcus Pembrey, Ze'ev Hochberg, Armour, JA, Hochberg, Z, Richard Trembath, Grossman, Ashley, William Reardon, John A.L. Armour, Coyle, B, Gausden, E, Reardon, W, Pembrey, M, Keith Britton, Rebecca Coffey, Eleanor Gausden, Grossman, A, Ashley Grossman, Trembath, R   +20 more
core   +1 more source

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

Laryngoscope Investigative Otolaryngology, Volume 9, Issue 3, June 2024.
Diagnostic yield for Hispanic and Latino with severe to profound sensorineural hearing loss undergoing comprehensive genomic testing. Abstract Objective Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking.
Monica Rodriguez‐Valero, Adrian Pastolero, Shelby Redfield, Alma Medrano, Melania Abreu‐Gonzalez, Jose Francisco Gallardo‐Ollervides, Juan Carlos Cisneros Lesser, Maria Fernanda Hinojosa Valencia, Dennis Poe, Eliot Shearer   +9 more
wiley   +1 more source

Influence of melanin and macrophage activation on hearing loss in SLC26A4 deficient mice.

Neurobiology of Disease
Hearing loss associated with SLC26A4 mutations exhibits diverse phenotypes, including congenital, acquired, progressive, and fluctuating impairments. This study investigates how pigmentation influences auditory dysfunction and immune responses in the ...
Natsuki Aoki, Ayako Maruyama, Toru Miwa, Natsuko Kurata, Keiji Honda, Yoshiyuki Kawashima, Takeshi Tsutsumi, Taku Ito   +7 more
doaj   +1 more source

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Orphanet Journal of Rare Diseases, 2019
Background Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts   +8 more
doaj   +1 more source

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report. [PDF]

Medicine (Baltimore), 2022
Lu YT, Lu YT, Wang L, Hou LL, Zheng PP, Xu Q, Deng DT.   +6 more
europepmc   +1 more source

Audiological Features in Pendred Syndrome: A Scoping Review

BACKGROUND: Pendred syndrome (PS) is one of the main causes of congenital hearing loss and is estimated to be the cause of 4-7.5% of hereditary deafness cases worldwide.
Marianna Manuelli, Chiara Bianchini, Daniele Monzani, Silvia Palma, Francesco Stomeo, Andrea Migliorelli, Stefano Pelucchi, Andrea Ciorba   +7 more
core   +1 more source

Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction. [PDF]

BMJ Case Rep, 2022
Sasaki T, Onaga R, Koshu R.
europepmc   +1 more source

Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process. [PDF]

Endocr Pathol, 2022
Vázquez-Román V, Cameselle-Teijeiro JM, Fernández-Santos JM, Ríos-Moreno MJ, Loidi L, Ortiz T, Martín-Lacave I.   +6 more
europepmc   +1 more source

Pendred syndrome with hyperthyroidism. [PDF]

J Rural Med, 2020
Kusano Y.
europepmc   +1 more source

Radiological malformations of the ear in Pendred syndrome.

, 1998
Pendred syndrome comprises the association of severe congenital sensorineural deafness with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the primary genetic defect remains unknown.
Trembath, RC, Luxon, LM, Grossman, AB, Phelps, PD, Britton, KE, Reardon, W, Kendall-Taylor, P, Stephens, SG, Cadge, BC, Graham, JM, Coffey, RA, Pembrey, ME   +11 more
core   +1 more source