Below are the most recent publications written about "Heterozygote" by people in Profiles.
-
Christian T, Maharjan S, Yin S, Yamaki Y, Masuda I, Li F, Muraresku C, Clever S, Ganetzky RD, Hou YM. A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype. J Biol Chem. 2025 01; 301(1):108092.
-
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.
-
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.
-
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.
-
Lu HY, Sertori R, Contreras AV, Hamer M, Messing M, Del Bel KL, Lopez-Rangel E, Chan ES, Rehmus W, Milner JD, McNagny KM, Lehman A, Wiest DL, Turvey SE. A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Front Immunol. 2021; 12:788278.
-
Block RC, Bang M, Peterson A, Wong ND, Karalis DG. Awareness, diagnosis and treatment of heterozygous familial hypercholesterolemia (HeFH) - Results of a US national survey. J Clin Lipidol. 2021 Sep-Oct; 15(5):682-689.
-
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).
-
Wong ND, Bang M, Block RC, Peterson ALH, Karalis DG. Perceptions and Barriers on the Use of Proprotein Subtilisin/Kexin Type 9 Inhibitors in Heterozygous Familial Hypercholesterolemia (From a Survey of Primary Care Physicians and Cardiologists). Am J Cardiol. 2021 08 01; 152:57-62.
-
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.
-
McDuff SGR, Bellon JR, Shannon KM, Gadd MA, Dunn S, Rosenstein BS, Ho AY. ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations. Int J Radiat Oncol Biol Phys. 2021 08 01; 110(5):1373-1382.