Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Walaa Kamal Eddine Ahmad Mohamed"'
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Akademický článek
Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Autor: Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
Publikováno v: PLoS ONE, Vol 12, Iss 9, p e0185281 (2017)
Autosomal recessive non-syndromic hearing loss is one of the most common monogenic diseases. It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult. In this study, whole-exome sequencing was performed fo
Externí odkaz: https://doaj.org/article/0a9bb1eebf2346cd97f6ba2bc5f60343
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2
Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process
Autor: Mona Mahfood, Rania Harati, Jihen Chouchen, Abdullah Al Mutery, Walaa Kamal Eddine Ahmad Mohamed, Abdelaziz Tlili
Publikováno v: Saudi Journal of Biological Sciences
Saudi Journal of Biological Sciences, Vol 28, Iss 8, Pp 4421-4429 (2021)
The development of next generation sequencing techniques has facilitated the detection of mutations at an unprecedented rate. These efficient tools have been particularly beneficial for extremely heterogeneous disorders such as autosomal recessive no
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64784a76361bd03c51d0cb19e0388e9
http://europepmc.org/articles/PMC8324942
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3
Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss
Autor: Walaa Kamal Eddine Ahmad Mohamed, Mona Mahfood, Abdelaziz Tlili, Abdullah Al Mutery
Publikováno v: Genetic testing and molecular biomarkers. 23(3)
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary deafness. Despite its frequency, the diagnosis of this disorder continues to be a challenging task given its extreme genetic heterogeneity. The purpose of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a7dddcb68002f8e93d017f534f4fae9
https://pubmed.ncbi.nlm.nih.gov/30758234
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4
In silico analysis of DNA variants v1
Autor: Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
In order to determine the consequence of ILDR1 reported mutations on splicing and translation initiation, we used Human Splicing Finder (version 3.0) (http://www.umd.be/HSF3/) and ORF finder (http://www.geneinfinity.org/sms/sms_orffinder.html) respec
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f49c5778c39b8adc085ee7ba3f7dd53
https://doi.org/10.17504/protocols.io.jhxcj7n
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5
Whole-exome sequencing and bioinformatics analysis v1
Autor: Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed and Khalid Bajou
Sequencing library construction, exome capture, sequencing, and standard data analyses for the affected children in this family was performed bySengenics. Exome capturing and enrichment was carried out using SureSelect All ExonV5kit (Agilent Technolo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60b5ab6ce77979c6f8504b802c2abc8a
https://doi.org/10.17504/protocols.io.jhscj6e
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6
c.804delG mutation screening v1
Autor: Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
The novel c.804delG mutation, occurring in the seventh exon of the ILDR1 gene, abolishes a FauI restriction site. The FauI restriction pattern of the exon7 fragment (1003 bp) was used to screen 50 deaf individuals and 120 unrelated healthy UAE indivi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::68259108eafc84a12be1278bbde03d0b
https://doi.org/10.17504/protocols.io.jhwcj7e
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8
Sanger sequencing of ILDR1 exon 7 v1
Autor: Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
Sanger sequencing was performed on available samples from all affected family members to determine whether the potential mutation in the causative gene co-segregated with the disease phenotype. In order to amplify exon 7 of the ILDR1 gene, we designe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d6064aef9d4d00fd52743b9300da712
https://doi.org/10.17504/protocols.io.jhvcj66
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9
Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation
Autor: Khalid Bajou, Abdullah Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Abdelaziz Tlili
Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 9, p e0185281 (2017)
Autosomal recessive non-syndromic hearing loss is one of the most common monogenic diseases. It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult. In this study, whole-exome sequencing was performed fo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e993998fa659319fd9b8f21dac67192
https://doi.org/10.1371/journal.pone.0185281
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