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Diagnosis of mitochondrial disorders applying massive pyrosequencing.
Kauffman MA, Gonzlez-Morón D, Consalvo D, Westergaard G, Vazquez M, Mancini E, Taratuto AL, Rey R, Kochen S. Kauffman MA, et al. Mol Biol Rep. 2012 Jun;39(6):6655-60. doi: 10.1007/s11033-012-1471-9. Mol Biol Rep. 2012. PMID: 22302390
Traditionally, molecular diagnosis of mitochondrial diseases was mostly accomplished by the use of Sanger sequencing and PCR-RFLP. ...Complete genomic sequences of mitochondrial DNA were obtained by 454 massive pyrosequencing from …
Traditionally, molecular diagnosis of mitochondrial diseases was mostly accomplished by the use of Sanger sequencing …
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ Jr, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten HJ, Carracedo A, Khan I, Qashqari H, Madkhali N, Saka M, Saini KS, Jamal A, Al-Maghrabi J, Abuzenadah A, Chaudhary A, Al Qahtani M, Damanhouri G, Alkhatabi H, Goodeve A, Crookes L, Niksic N, Beauchamp N, Abuzenadah AM, Vaught J, Budowle B, Assidi M, Buhmeida A, Al-Maghrabi J, Buhmeida A, Assidi M, Merdad L, Kumar S, Miura S, Gomez K, Carracedo A, Rasool M, Rebai A, Karim S, Eldin HFN, Abusamra H, Alhathli EM, Salem N, Al-Qahtani MH, Kumar S, Faheem H, Agarwa A, Nieschlag E, Wistuba J, Damm OS, Beg MA, Abdel-Meguid TA, Mosli HA, Bajouh OS, Abuzenadah AM, Al-Qahtani MH, Coskun S, Abu-Elmagd M, Buhmeida A, Dallol A, Al-Maghrabi J, Hakamy S, Al-Qahtani W, Al-Harbi A, Hussain S, Assidi M, Al-Qahtani M, Abuzenadah A, Ozkosem B, DuBois R, Messaoudi SS, Dandana MT, Mahjoub T, Almawi WY, Abdalla S, Al-Aama MN, Elzawahry A, Takahashi T, Mimaki S, Furukawa E, Nakatsuka R, Kurosaka I, Nishigaki T, Nakamura H, Serada S, Naka T, Hirota S, Shibata T, Tsuchihara K, Nishida T, Kato M, Mehmood S, Ashraf NM, Asif A, Bilal M, Mehmood MS, Hussain … See abstract for full author list ➔ Shay JW, et al. BMC Genomics. 2016 Jul 20;17 Suppl 6(Suppl 6):487. doi: 10.1186/s12864-016-2858-0. BMC Genomics. 2016. PMID: 27454254 Free PMC article.
Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and …
Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of mi …
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F, Uomo F, Caldora F, Mocerino R, Adamo D, Testa F, Simonelli F, Scudiero O, Tinto N, Frisso G, Mazzaccara C. Barretta F, et al. Genes (Basel). 2023 May 15;14(5):1087. doi: 10.3390/genes14051087. Genes (Basel). 2023. PMID: 37239447 Free PMC article.
BACKGROUND: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). ...Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnos …
BACKGROUND: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases …
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.
Gardner K, Payne BA, Horvath R, Chinnery PF. Gardner K, et al. Eur J Hum Genet. 2015 Mar;23(3):413-5. doi: 10.1038/ejhg.2014.96. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896153 Free PMC article.
Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtDNA variants in health and disease, but confident resolution of very low-level variants (<2% heteroplasmy) remains challenging due to the …
Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtD …
MCbiclust: a novel algorithm to discover large-scale functionally related gene sets from massive transcriptomics data collections.
Bentham RB, Bryson K, Szabadkai G. Bentham RB, et al. Nucleic Acids Res. 2017 Sep 6;45(15):8712-8730. doi: 10.1093/nar/gkx590. Nucleic Acids Res. 2017. PMID: 28911113 Free PMC article.
The method has been evaluated using synthetic data and applied to large bacterial and cancer cell datasets. We show that the large biclusters discovered, so far elusive to identification by existing techniques, are biologically relevant and thus MCbiclust has great potenti …
The method has been evaluated using synthetic data and applied to large bacterial and cancer cell datasets. We show that the large bi …