Results 131 to 140 of about 2,527,901 (173)

Analysis of the Expression and Mutation of Several Genes Related to Hearing Loss in Children in Vietnam. [PDF]

Cureus
Hoang PT, Quan NT, Hoang CX, Vo TTB.
europepmc   +1 more source

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns. [PDF]

Open Med (Wars)
Lian J, Wu T, Jin A, Wang H, Cheng Z.
europepmc   +1 more source

Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review. [PDF]

Front Oncol
Wu H, Xu J, Xu R, Shi L, Xu L, Zhou J, Zheng H.   +6 more
europepmc   +1 more source

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. [PDF]

Hum Genomics
Gu X, Huang R, Xie J, Shi C, Zhang Y, Liang Z, Wang L, Xiao D, Yuan G, Li C, Chen J, Hao H.   +11 more
europepmc   +1 more source

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications. [PDF]

Biomolecules
Lim CK, Cheng MS, Low G, Tang JZ, Ng JH, Ong NG, Leem PS, Lim SA, Thong JF, Tan VYJ.   +9 more
europepmc   +1 more source

Concurrent physiologic and gene-based genetic newborn hearing screening in a general population. [PDF]

Hum Genomics
Sun Y, Zhao J, Meng L, Jiang T, Xiang J, Wang X, Guan X, Zhang J, Fan Y, Xu J, Lin Z, Sun X, Huang H, Fan C, Yang J, Peng Z, Xu Z.   +16 more
europepmc   +1 more source

The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients

Endocrine, 2006
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein.
Sung Kil Lim, Hyun-Young Park, Su Jin Jeong   +2 more
exaly   +5 more sources

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

European Journal of Human Genetics, 2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital ...
Sébastien SCHMERBER, Didier Lacombe
exaly   +2 more sources