Below are the most recent publications written about "Phenotype" by people in Profiles.
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Mazzotti A, Artioli E, Brizola E, Moroni A, Tremosini M, Di Cecco A, Gallone S, Faldini C, Sangiorgi L, Gnoli M. Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report. Genes (Basel). 2024 Nov 20; 15(11).
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Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA. A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Mol Genet Genomic Med. 2024 Nov; 12(11):e70031.
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d'Escamard V, Kadian-Dodov D, Ma L, Lu S, King A, Xu Y, Peng S, V Gangula B, Zhou Y, Thomas A, Michelis KC, Bander E, Bouchareb R, Georges A, Nomura-Kitabayashi A, Wiener RJ, Costa KD, Chepurko E, Chepurko V, Fava M, Barwari T, Anyanwu A, Filsoufi F, Florman S, Bouatia-Naji N, Schmidt LE, Mayr M, Katz MG, Hao K, Weiser-Evans MCM, Bj?rkegren JLM, Olin JW, Kovacic JC. Integrative gene regulatory network analysis discloses key driver genes of fibromuscular dysplasia. Nat Cardiovasc Res. 2024 Sep; 3(9):1098-1122.
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Atreya MR, Huang M, Moore AR, Zheng H, Hasin-Brumshtein Y, Fitzgerald JC, Weiss SL, Cvijanovich NZ, Bigham MT, Jain PN, Schwarz AJ, Lutfi R, Nowak J, Thomas NJ, Quasney M, Dahmer MK, Baines T, Haileselassie B, Lautz AJ, Stanski NL, Standage SW, Kaplan JM, Zingarelli B, Sahay R, Zhang B, Sweeney TE, Khatri P, Sanchez-Pinto LN, Kamaleswaran R. Identification and transcriptomic assessment of latent profile pediatric septic shock phenotypes. Crit Care. 2024 Jul 17; 28(1):246.
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Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991.
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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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Nelson AT, Cicardi ME, Markandaiah SS, Han JY, Philp NJ, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H, Trotti D. Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes. EMBO Rep. 2024 May; 25(5):2479-2510.
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Colombi D, Rovelli G, Luigi-Sierra MG, Ceccobelli S, Guan D, Perini F, Sbarra F, Quaglia A, Sarti FM, Pasquini M, Amills M, Lasagna E. Population structure and identification of genomic regions associated with productive traits in five Italian beef cattle breeds. Sci Rep. 2024 04 12; 14(1):8529.
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Postolache TT, Al Tinawi QM, Gragnoli C. The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome. J Ovarian Res. 2024 Jan 13; 17(1):17.
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Weiss SL, Fitzgerald JC. Pediatric Sepsis Diagnosis, Management, and Sub-phenotypes. Pediatrics. 2024 Jan 01; 153(1).