Results 171 to 180 of about 7,226 (202)

Molecular analysis of SLC26A4 gene in a Chinese deafness family.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To identify the pathogenic gene for a non-syndromic hearing loss family.Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was ...
Hao, Hu, De-sheng, Liang, Ling-qian, Wu, Yong, Feng, Fang, Cai, Kun, Xia, Qian, Pan, Zhi-gao, Long, He-ping, Dai, Jia-hui, Xia   +9 more
openaire   +1 more source

[Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation].

Zhonghua fu chan ke za zhi, 2008
To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery.DNA was extracted from amniotic cells in a pregnant woman close to 21 weeks' gestation, as well as from peripheral blood cells of the pregnant woman, her husband and their two sons. Screening for GJB2 and SLC26A4 gene mutations was firstly performed in the
Hao, Hu, Ling-qian, Wu, De-sheng, Liang, Yong, Feng, Fang, Cai, Kun, Xia, Qian, Pan, Zhi-gao, Long, He-ping, Dai, Jia-hui, Xia   +9 more
openaire   +1 more source

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

Journal of Endocrinological Investigation, 2004
Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred syndrome consists in sensorineural deafness, goiter and impaired thyroid hormone synthesis while in EVA thyroid function seems to be preserved.
Bogazzi F., Russo D., Raggi F., Ultimieri F., Berrettini S., Forli F., Grasso L., Ceccarelli C., Mariotti S., Pinchera A., Bartalena L., Martino E.   +11 more
openaire   +5 more sources

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes

International Journal of Pediatric Otorhinolaryngology, 2013
Most studies of the molecular etiology of sensorineural hearing loss have described deafness as a monogenic disease encompassing double-allele mutations for patients with autosomal recessive deafness. Here, we report the first case of autosomal recessive genetic deafness in an enlarged vestibular aqueduct syndrome (EVAS) patient with biallelic ...
Shasha, Huang, Dongyi, Han, Guojian, Wang, Yongyi, Yuan, Yueshuai, Song, Mingyu, Han, Zhengyi, Chen, Pu, Dai   +7 more
openaire   +2 more sources

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

International Journal of Pediatric Otorhinolaryngology, 2010
To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia).We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct.
Jonard, Laurence, Niasme-Grare, Magali, Bonnet, Crystel, Feldmann, Delphine, Rouillon, Isabelle, Loundon, Natalie, Calais, Catherine, Catros, Hélène, David, Albert, Dollfus, Hélène, Drouin-Garraud, Valérie, Duriez, Françoise, Eliot, Marie Madeleine, Fellmann, Florence, Francannet, Christine, Gilbert-Dussardier, Brigitte, Gohler, Catherine, Goizet, Cyril, Journel, Hubert, Mom, Thierry, Thuillier-Obstoy, Marie-Françoise, Couderc, Remy, Garabédian, Eréa Noël, Denoyelle, Françoise, Marlin, Sandrine   +24 more
openaire   +2 more sources

[Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2022
Objective:To explore the correlation between high-resolution computed tomography（HRCT） of temporal bones, SLC26A4 gene mutation and hearing loss in patients with enlarged vestibular aqueduct（EVA）. Methods:The medical records of 257 subjects hospitalized for moderate to severe sensorineural hearing loss in the Department of Otolaryngology Head and Neck ...
Zhibin, Zhao, Yuanping, Zhu, Yifei, Fu, Hongyan, Jiang   +3 more
openaire   +1 more source

[Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2018
Objective:To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.Method:Genomic DNA samples were extracted from peripheral blood of the cochlear implant recipients associated with enlarged vestibular aqueduct syndrome.
J, Chen, L S, Shi, H, Zhou, G J, Zhu, D B, Ma, J Y, Li, X, Gao   +6 more
openaire   +1 more source

[Analysis of genotypes and audiological characteristics of children with SLC26A4 gene pathogenic mutations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2018
Objective:To explore the correlation of SLC26A4 genotype and audiology.Method:The subjects were 70 children aged 0 to 7 years old, who were admitted to otological outpatient department.All subjects received nine crystal hereditary deafness gene chip and confirmed by (or)SLC26A4 gene full coding region detection.The patients were diagnosed as homozygous
X L, Zhao, L H, Huang, X Y, Wang, Yt, DU, Xl, Wang, X H, Cheng, L P, Zhao, Y, Li   +7 more
openaire   +1 more source

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly