Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Raber IM, Khalili A, Khang R, Buch PM, Eagle RC, Seo GH, Lee H, Milman T. Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant. Cornea. 2025 Feb 18; 44(10):1219-1228.
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Lasota J, Kaczorowski M, Chlopek M, Milek-Krupa J, Szczepaniak M, Ylaya K, Chodyna M, Izycka-Swieszewska E, Scherping A, Czapiewski P, Dziuba I, Kato Y, Halon A, Kowalik A, Miettinen M. An immunohistochemical and molecular genetic study of 60 colorectal carcinoma brain metastases in pursuit of predictive biomarkers for cancer therapy. Hum Pathol. 2025 Jan; 155:105717.
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Silverman RF, Francis JH, Robbins MA, Dunkel IJ, Abramson DH. RB1 CIRCULATING TUMOR DNA IN THE BLOOD OF PATIENTS WITH RETINOBLASTOMA INCREASES IN UNTREATED PATIENTS. Retina. 2024 12 01; 44(12):2123-2128.
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Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Invest Ophthalmol Vis Sci. 2024 May 01; 65(5):22.
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Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivel? TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, M?ller HU, Munier FL, Berger T, Lisch W. IC3D Classification of Corneal Dystrophies-Edition 3. Cornea. 2024 Apr 01; 43(4):466-527.
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Ullah M, Rehman AU, Folcher M, Ullah A, Usman F, Rashid A, Khan B, Quinodoz M, Ansar M, Rivolta C. A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. Ophthalmic Res. 2023; 66(1):878-884.
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Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. BMC Ophthalmol. 2023 Mar 23; 23(1):116.
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Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. Am J Med Genet A. 2023 04; 191(4):1007-1012.
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Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Int J Mol Sci. 2022 Nov 01; 23(21).
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van der Ende SR, Meyers BS, Capasso JE, Sasongko M, Yonekawa Y, Pihlblad M, Huey J, Bedoukian EC, Krantz ID, Ngo MH, McMaster CR, Levin AV, Robitaille JM. Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. JAMA Ophthalmol. 2022 09 01; 140(9):889-893.