Results 171 to 180 of about 8,863 (195)

Integrated bulk and single cell sequencing with experimental validation identifies type 2 diabetes biomarkers. [PDF]

Sci Rep
Cao Y, Chen L, Zhuang Y, Shi Y, Dong H, Guo Z, Li J.   +6 more
europepmc   +1 more source

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]

Commun Med (Lond)
Hao C, Hu X, Guo R, Qi Z, Xie L, Jin F, Li H, Ni X, Li W.   +8 more
europepmc   +1 more source

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran. [PDF]

Mol Genet Genomic Med
Mohseni M, Ashrafi FZ, Abbaspour Rodbaneh E, Mokabber H, Vafaei M, Nobakht R, Keshavarzi F, Arzhangi S, Arish S, Azar ZN, Kahrizi K, Najmabadi H, Davarnia B.   +12 more
europepmc   +1 more source

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Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss

Human Genetics, 2021
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by inner ear malformations, including an enlarged vestibular aqueduct (EVA), incomplete cochlear partition ...
Keiji Honda, Andrew J. Griffith
openaire   +2 more sources

Novel mutations in the SLC26A4 gene

International Journal of Pediatric Otorhinolaryngology, 2012
Mutations in the SLC26A4 gene (7q22.3-7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other ...
Busi M, CASTIGLIONE, ALESSANDRO, Taddei Masieri M, Ravani A, Guaran V, ASTOLFI, LAURA, TREVISI, PATRIZIA, Ferlini A, MARTINI, ALESSANDRO   +8 more
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Cochlear Pathomorphogenesis of Incomplete Partition Type II in Slc26a4-Null Mice

Journal of the Association for Research in Otolaryngology, 2021
Incomplete partition type II (IP-II) is frequently identified in ears with SLC26A4 mutations. Cochleae with IP-II are generally observed to have 1½ turns; the basal turns are normally formed, and the apical turn is dilated or cystic. The objective of this study was to characterize the pathomorphogenesis of the IP-II cochlear anomaly in Slc26a4-null ...
Taku Ito, Taro Fujikawa, Keiji Honda, Ayane Makabe, Hiroki Watanabe, Jing Bai, Yoshiyuki Kawashima, Toru Miwa, Andrew J. Griffith, Takeshi Tsutsumi   +9 more
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Genotype–phenotype correlations for SLC26A4-related deafness

Human Genetics, 2007
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two recessive disorders characterized by the association of sensorineural hearing loss (SNHL) with inner ear malformations that range from isolated EVA to Mondini Dysplasia, a complex malformation that includes a cochlear dysplasia and EVA.
Hela, Azaiez, Tao, Yang, Sai, Prasad, Jessica L, Sorensen, Carla J, Nishimura, William J, Kimberling, Richard J H, Smith   +6 more
openaire   +2 more sources