Letter to Editor
Tıbbi genetik uygulamalarında altın standart fenomiks: tüm ekzom analizi yapılan 3 nörogenetik hasta örneği
Abstract
Tüm ekzom dizileme analizi genetik etiyolojisinde heterojenite gösteren hastalıkların tanısında etkili bir yöntemdir. Ancak, çok sık görülen ve klinik etkisi bilinmeyen varyantların analizi ileri düzeyde klinik yorumlama ve fenotip-genotip korelasyonu gerektirmektedir. Bu sunumda, klinik fenotiplemenin elde edilen veriler ile birlikte değerlendirilmesinin önemini vurgulamak amacıyla, birden fazla kliniğe neden olan gen mutasyonuna sahip 3 olgu sunulmaktadır.
References
- 1. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, et al. Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of medical genetics2012 Jun;49(6):353-61.
- 2. Shakiba M, Keramatipour M. Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders. Iranian journal of child neurology2018 Winter;12(1):7-15.
- 3. Al-Nbaheen MS. Analysis of Downs syndrome with molecular techniques for future diagnoses. Saudi journal of biological sciences2018 Mar;25(3):558-62.
- 4. Scriver CR. The Metabolic Basis of Inherited Disease: McGraw-Hill Information Services Company; 1995.
- 5. Scriver C, Beaudet A, Sly W, Valle D, Childs B, Kinzler K, et al. The Metabolic and Molecular Bases of Inherited Disease, 4 volume set: McGraw-Hill Companies,Incorporated; 2000.
- 6. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. The New England journal of medicine2012 Nov 15;367(20):1921-9.
- 7. Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, et al. Exome Sequencing and the Management of Neurometabolic Disorders. The New England journal of medicine2016 Jun 9;374(23):2246-55.
Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
Abstract
Phenomix as the gold standard in medical genetics applications: three neurogenetic patient samples with full exome analysis
References
- 1. Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, et al. Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of medical genetics2012 Jun;49(6):353-61.
- 2. Shakiba M, Keramatipour M. Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders. Iranian journal of child neurology2018 Winter;12(1):7-15.
- 3. Al-Nbaheen MS. Analysis of Downs syndrome with molecular techniques for future diagnoses. Saudi journal of biological sciences2018 Mar;25(3):558-62.
- 4. Scriver CR. The Metabolic Basis of Inherited Disease: McGraw-Hill Information Services Company; 1995.
- 5. Scriver C, Beaudet A, Sly W, Valle D, Childs B, Kinzler K, et al. The Metabolic and Molecular Bases of Inherited Disease, 4 volume set: McGraw-Hill Companies,Incorporated; 2000.
- 6. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. The New England journal of medicine2012 Nov 15;367(20):1921-9.
- 7. Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, et al. Exome Sequencing and the Management of Neurometabolic Disorders. The New England journal of medicine2016 Jun 9;374(23):2246-55.
There are 7 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Letter to the Editor |
| Authors | |
| Publication Date | June 30, 2021 |
| Acceptance Date | April 16, 2021 |
| Published in Issue | Year 2021 Volume: 46 Issue: 2 |
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