Below are the most recent publications written about "Heterozygote" by people in Profiles.
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Le KN, Maguire M, Puchalt NG, Lidon L, S?nchez-Mart?nez A, Franasiak J, Osman E. Parental balanced translocation carriers do not have decreased usable blastulation rates or live birth rates compared with infertile controls. Fertil Steril. 2025 May; 123(5):865-872.
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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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Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing. Am J Med Genet A. 2022 09; 188(9):2825-2831.
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Dahan-Oliel N, Dieterich K, Rauch F, Bardai G, Blondell TN, Gustafson AG, Hamdy R, Latypova X, Shazand K, Giampietro PF, van Bosse H. The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children. Genes (Basel). 2021 08 06; 12(8).
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Gabriel MC, Rice SM, Sloan JL, Mossayebi MH, Venditti CP, Al-Kouatly HB. Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. Mol Genet Genomic Med. 2021 04; 9(4):e1621.
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Hanley PC, Kanwar HS, Martineau C, Levine MA. Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations. J Clin Endocrinol Metab. 2020 10 01; 105(10).
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O'Sullivan S, Ozoemena L, Liu L, McGrath JA, Mellerio JE, Martinez AE. PLACK syndrome: the penny dropped. Clin Exp Dermatol. 2020 Dec; 45(8):1091-1092.
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Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. Exp Dermatol. 2020 08; 29(8):742-748.
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Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. Am J Med Genet A. 2020 08; 182(8):1906-1912.
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Ertop P, Vural S, G?kpinar Ili E, Durmaz CD, Heper AO, McGrath JA, Ilgin RH, Boyvat A. Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa. Int J Dermatol. 2020 Jul; 59(7):851-855.