Below are the most recent publications written about "Homozygote" by people in Profiles.
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Munir A, Khan IU, Rashid A, Anwar I, Shah S, Oreshkov S, Ullah M, Khan HA, Ullah U, Ahmad A, Ansar M, Rehman AU. A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family. Ophthalmic Genet. 2025 02; 46(1):47-55.
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Walker EC, Javati S, Todd EM, Matlam JP, Lin X, Bryant M, Krone E, Ramani R, Chandra P, Green TP, Anaya EP, Zhou JY, Alexander KA, Tong RS, Yuasi L, Boluarte S, Yang F, Greenberg L, Nerbonne JM, Greenberg MJ, Clemens RA, Philips JA, Wilson LD, Halabi CM, DeBosch BJ, Blyth CC, Druley TE, Kazura JW, Pomat WS, Morley SC. Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease. Nat Immunol. 2024 Dec; 25(12):2247-2258.
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Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. Am J Hum Genet. 2024 09 05; 111(9):2012-2030.
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Gidding SS, Ballantyne CM, Cuchel M, de Ferranti S, Hudgins L, Jamison A, McGowan MP, Peterson AL, Steiner RD, Uveges MK, Wang Y. It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States. Glob Heart. 2024; 19(1):43.
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Patel DD, Gripp KW, Wadman E, Mishra I, Kandula V. Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review. Am J Med Genet A. 2024 08; 194(8):e63593.
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Brooks IR, Alrokh Y, Kazemizadeh A, Balon K, Newby G, Liu DR, Laczmanski L, McGrath JA, Jack?w-Malinowska J. Highly efficient biallelic correction of homozygous COL7A1 mutation using ABE8e adenine base editor. Br J Dermatol. 2024 03 15; 190(4):583-585.
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Cuchel M, Lee PC, Hudgins LC, Duell PB, Ahmad Z, Baum SJ, Linton MF, de Ferranti SD, Ballantyne CM, Larry JA, Hemphill LC, Kindt I, Gidding SS, Martin SS, Moriarty PM, Thompson PP, Underberg JA, Guyton JR, Andersen RL, Whellan DJ, Benuck I, Kane JP, Myers K, Howard W, Staszak D, Jamison A, Card MC, Bourbon M, Chora JR, Rader DJ, Knowles JW, Wilemon K, McGowan MP. Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry. J Am Heart Assoc. 2023 05 02; 12(9):e029175.
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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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Gidding SS, Hegele RA. Introducing Personalized Medicine Into Pediatric Homozygous Familial Hypercholesterolemia Care. Arterioscler Thromb Vasc Biol. 2022 12; 42(12):1458-1460.
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Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.