Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 61 (6) ◽  
pp. 539-545 ◽  
Author(s):  
Fang Lv ◽  
Xiao-jie Xu ◽  
Jian-yi Wang ◽  
Yi Liu ◽  
Asan ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Novel Mutations

Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 28 (4) ◽  
pp. 1473-1480 ◽  
Author(s):  
H. Zhang ◽  
H. Yue ◽  
C. Wang ◽  
J. Gu ◽  
J. He ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Novel Mutations ◽  
Chinese Families

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Michael Volodarsky ◽  
Barak Markus ◽  
Idan Cohen ◽  
Orna Staretz-Chacham ◽  
Hagit Flusser ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Deletion Mutation

Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

2008 ◽  
Vol 35 (3) ◽  
pp. 181-190 ◽  
Author(s):  
E. Mair Williams ◽  
Alan C. Nicholls ◽  
Sara C. M. Daw ◽  
Nan Mitchell ◽  
L. Stefan Levin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Irish Family

scholarly journals Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Haiqiong Shang ◽  
Denise Yan ◽  
Naeimeh Tayebi ◽  
Kolsoum Saeidi ◽  
Afsaneh Sahebalzamani ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Linkage Analysis ◽  
Autosomal Recessive ◽  
Target Sequence ◽  
Novel Mutations ◽  
Nonsyndromic Deafness ◽  
Targeted Next Generation Sequencing ◽  
Deafness Gene ◽  
Comprehensive Diagnosis ◽  
Generation Sequencing

Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A). The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.

scholarly journals Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 5 (1) ◽  
pp. 28-39 ◽  
Author(s):  
Jose A. Caparros-Martin ◽  
Mona S. Aglan ◽  
Samia Temtamy ◽  
Ghada A. Otaify ◽  
Maria Valencia ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Molecular Spectrum

scholarly journals Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Shan Li ◽  
Yixuan Cao ◽  
Han Wang ◽  
Lulu Li ◽  
Xiuzhi Ren ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Phenotypic Analysis ◽  
Chinese Cohort
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