Results 41 to 50 of about 683 (138)

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]

, 2013
Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M, Differ, AM, Jenkins, L, Landa, P, Rajput, K   +4 more
core   +2 more sources

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

BMC Research Notes, 2018
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Thaís Oliveira dos Anjos, Greice Andreotti De Molfetta, Wilson Araujo Silva, Victor Evangelista de Faria Ferraz   +6 more
doaj   +1 more source

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Journal of Clinical Laboratory Analysis, Volume 34, Issue 9, September 2020., 2020
Abstract Background Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural hearing loss.
Chuan Zhang, Shengju Hao, Qinghua Zhang, Furong Liu, Bingbo Zhou, Feng Xuan, Wang Xing, Xue Chen, Yan Wang, Panpan Ma, Zongfu Cao, Xu Ma   +11 more
wiley   +1 more source

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BMC Medical Genetics, 2019
Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith   +8 more
doaj   +1 more source

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. [PDF]

, 2014
published_or_final_versio
A Yin, AE Shearer, AE Shearer, AJ Coffey, AM Sulonen, C Petit, C Petit, CC Morton, DL Dinwiddie, Dongyi Han, Fei Ji, G Van Camp, HM Woo, Huijun Yuan, I Schrauwen, Jing Cheng, JM Schultz, KwongWai Choy, Liyang Liu, LM Astuto, M Sotomayor, MA DePristo, MA Musarella, Michael Zhang, MJ Clark, NE Morton, PJ Coucke, R Tewhey, RJ Smith, SE Calvo, TA Sivakumaran, V Plagnol, W Tang, Weidong Shen, X Lin, X Liu, Xuegong Zhang, Xueya Zhou, Y Yuan, Ye Cao, Yu Lu, Z Brownstein, Zhanguo Jin   +42 more
core   +1 more source

Development of in‐house genetic screening for pediatric hearing loss

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 497-505, June 2020., 2020
Abstract Objectives To evaluate the efficiency of in‐house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL). Methods Retrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing loss who underwent either send out vs in‐house ...
Karl W. Doerfer, Tara Sander, Girija G. Konduri, David R. Friedland, Joseph E. Kerschner, Christina L. Runge   +5 more
wiley   +1 more source

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

Nature Genetics, 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). The remainder are associated with other developmental anomalies termed syndromic deafness.
Coyle, B, Coffey, R, Armour, J, Gausden, E, Hochberg, Z, Grossman, A, Britton, K, Pembrey, M, Reardon, W, Trembath, R   +9 more
openaire   +2 more sources

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +1 more source

Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center [PDF]

, 2011
Universal newborn hearing screening (UNHS) is of paramount importance for early identification and management of hearing impairment in children.
A Pollak, AE Shearer, B Coyle, BK Cone, BR Vohr, BY Choi, C Campbell, C Kennedy, C Kennedy, C Yoshinaga-Itano, CB Hick, CC Wu, CC Wu, CC Wu, CC Wu, Chen-Chi Wu, Chia-Cheng Hung, Chien-Nan Lee, Chuan-Jen Hsu, CR Kennedy, DC Thompson, DK Chan, FH Bess, H Kokotas, HJ Park, HL Hwa, I Del Castillo, J Rodriguez-Paris, JA Mason, JG Batsakis, JL Dhondt, JL Johnson, JM Davis, JW Brunger, K Tsukada, K Tsukamoto, KA Withrow, KR White, KW Chang, L Barsky-Firkser, LA Everett, M Bitner-Glindzicz, M Lipan, M Wake, Markus Schuelke, N Hilgert, N Levy, NM Young, Po-Nien Tsao, RJ Morell, RJ Smith, RK Jackler, RL Snoeckx, S Kupka, S Lewis, S Marlin, S McKay, S Usami, SG Malik, Shin-Yu Lin, SP Pryor, T Hutchin, T Mori, TP Hutchin, V Migliosi, VW Norris, Wu-Shiun Hsieh, XC Li, Yi-Ning Su   +68 more
core   +10 more sources

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family [PDF]

, 2017
List of PCR primers used.
Jia-Shiun Khoo, Loo-Ling Wu, Nor Azian Abdul Murad, Pei-Sin Chong, Rahman Jamal, Yock-Ping Chow, Zamzureena Mohd Rani   +6 more
core   +3 more sources