Below are the most recent publications written about "Heterozygote" by people in Profiles.
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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.
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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.
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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.
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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.
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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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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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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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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.
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Schneider RB, Myers TL, Rowbotham HM, Luff MK, Amodeo K, Sharma S, Wilson R, Jensen-Roberts S, Auinger P, McDermott MP, Alcalay RN, Biglan K, Kinel D, Tanner C, Winter-Evans R, Augustine EF, Cannon P, Holloway RG, Dorsey ER. A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design. J Parkinsons Dis. 2020; 10(3):1195-1207.
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Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.