- Segregation of Trans Mutations in the CDH23 Gene in an Emirati ...🔍
- Article Versions Notes🔍
- Genetic analysis of 106 sporadic cases with hearing loss in the UAE ...🔍
- University of Sharjah🔍
- ClinVar Genomic variation as it relates to human health🔍
- Molecular|genetic basis and diagnosis of congenital adrenal ...🔍
- Next|generation sequencing reveals a novel pathological mutation ...🔍
- Generation Sequencing Identifies Novel Mutations Expanding the ...🔍
Segregation of Trans Mutations in the CDH23 Gene in an Emirati ...
Segregation of Trans Mutations in the CDH23 Gene in an Emirati ...
Results: We identified two heterozygous mutations in the CDH23 gene: a novel nonsense variant (c.264G>A, p.Trp88Ter) and a missense variant (c.5168G>A, p.
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss. Genes 2024, 15, 1451. https://doi.org/10.3390 ...
Genetic analysis of 106 sporadic cases with hearing loss in the UAE ...
3) exhibited a potential segregation of two DNA variants in trans within the OTOF gene. ... UAE. These ... mutations of the novel cadherin-like gene CDH23.
University of Sharjah | Scilit
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss. by Mariam Alsebeyi, Abdullah Al Mutery, Mohammad ...
ClinVar Genomic variation as it relates to human health - NCBI
Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene. ... mutations on both CDH23 alleles: ...
Molecular-genetic basis and diagnosis of congenital adrenal ...
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Los... ... Background/Objectives: Hearing loss ( ...
Next-generation sequencing reveals a novel pathological mutation ...
Case Report. Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an ...
Generation Sequencing Identifies Novel Mutations Expanding the ...
Family 1: A novel missense variation (c.6626A>G; p. Tyr2209Cys) was identified in CDH23 gene. (NM_022124.5) leading to the change of tyrosine AA ...
Two new mutations, ESPN c.2257T>C and ESRRB c.10583 C>A
In two UAE families, whole and clinical exomes sequencing generated several DNA variants. Sanger sequencing, segregation and bioinformatics analyses revealed ...
Novel Missense and Splice Site Mutations in USH2A, CDH23 ...
Finally, a meta-analysis was conducted to calculate the prevalence of USH genes in the Lebanese population. Three missense mutations, two splice ...
CDH23 gene: MedlinePlus Genetics
The CDH23 gene provides instructions for making cadherin 23, a type of protein that helps cells stick together.
Genetic analysis of 106 sporadic cases with hearing loss in the UAE ...
WES revealed 33 genetic variants, including 6 homozygous and 27 heterozygous DNA changes, two of which were previously implicated in hearing loss, while 25 ...
Increasing the Yield in Targeted Next-Generation - ProQuest
Percentages refer to patients with mutations in the respective gene ... Patient 57 carries a deletion of exon 1 in trans ... CDH23 mutation, and her RP is ...
Abstracts from the 52nd European Society of Human Genetics ...
In summary, the FTO-mutations are very likely to be causative for the disease because of the type of mutation, the phenotype and the segregation ...
Full data view for gene CDH23 - Global Variome shared LOVD
This database is one of the ”Retinal and hearing impairment genetic variant databases”. Information, The variants shown are described using the NM_022124.5 ...
prothrombin gene mutation: Topics by Science.gov
The G20210A mutation variant of prothrombin gene is the second most frequent mutation identified in patients with deep venous thrombosis, after factor V Leiden.
cone and central receptor dystrophies - UCL Discovery
gene mutations causing retinitis pigmentosa or macular degeneration lead to the same ... Identification and In vitro expression of novel CDH23 mutations of ...
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. · Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 ...
... mutations of the novel cadherin-like gene CDH23.
CDH23 Methylation Status and Presbycusis Risk in Elderly Women
Missense mutations in CDH23 gene (NM_022124) have been associated with severe to profound non-syndromic pre-lingual hearing loss DFNB12 (McHugh and Friedman, ...