Novel mutations in theSDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss

2001 ◽  
Vol 31 (3) ◽  
pp. 255-263 ◽  
Author(s):  
Renee F. Badenhop ◽  
Sanjay Cherian ◽  
Reginald S.A. Lord ◽  
Bora E. Baysal ◽  
Peter E.M. Taschner ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Carotid Body ◽  
Sensorineural Hearing ◽  
Novel Mutations

scholarly journals Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

2008 ◽  
Vol 17 (14) ◽  
pp. 2150-2159 ◽  
Author(s):  
A. Rajab ◽  
D. Kelberman ◽  
S. C.P. de Castro ◽  
H. Biebermann ◽  
H. Shaikh ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations

Novel Mutations in LRTOMT Associated with Congenital Profound Sensorineural Hearing Loss in a Chinese Patient

2021 ◽  
Vol 57 (11) ◽  
pp. 1322-1327
Author(s):  
Y. Wang ◽  
Y. Ma ◽  
Y. Qin ◽  
Zh. Zeng ◽  
Zh. Zhong ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Chinese Patient ◽  
Sensorineural Hearing ◽  
Novel Mutations

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

Neurogenetics ◽  
2020 ◽  
Vol 21 (2) ◽  
pp. 135-143 ◽  
Author(s):  
Matias Morin ◽  
Anna-Lena Forst ◽  
Paula Pérez-Torre ◽  
Adriano Jiménez-Escrig ◽  
Verónica Barca-Tierno ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Phenotype ◽  
Sensorineural Hearing ◽  
Novel Mutations

scholarly journals Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Célia Nogueira ◽  
Miguel Coutinho ◽  
Cristina Pereira ◽  
Alessandra Tessa ◽  
Filippo M. Santorelli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Mitochondrial Genome ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations ◽  
Portuguese Population ◽  
Molecular Investigation ◽  
Molecular Etiology ◽  
Testing And Counseling

The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syndromic) and searched for variations in two frequent genes, GJB2 and GJB6, in the non-syndromic patients. Mutations in mtDNA were detected in 4.2% of the cases, including a hitherto undescribed change in the mtDNA-tRNATrp gene (namely, m.5558A>G). We also identified mono- or biallelic GJB2 mutations in 20 of 53 non-syndromic cases and also detected two novel mutations (p.P70R and p.R127QfsX84). Our data further reinforce the notion that genetic heterogeneity is paramount in children with SNHL.

scholarly journals The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

2014 ◽  
Vol 18 (2) ◽  
pp. 123-126 ◽  
Author(s):  
Doron M. Behar ◽  
Bella Davidov ◽  
Zippora Brownstein ◽  
Tamar Ben-Yosef ◽  
Karen B. Avraham ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations ◽  
Jewish Ancestry ◽  
The Many
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