Alexandra M. Dumitrescu to Phenotype
This is a "connection" page, showing publications Alexandra M. Dumitrescu has written about Phenotype.
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0.665
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Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.
Score: 0.127
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Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice. Endocrinology. 2020 05 01; 161(5).
Score: 0.117
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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465.
Score: 0.115
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The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
Score: 0.068
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.058
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Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43.
Score: 0.044
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.030
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Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
Score: 0.027
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.027
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An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066.
Score: 0.024
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Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51.
Score: 0.008
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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73.
Score: 0.008
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Dpp and Hh signaling in the Drosophila embryonic eye field. Development. 2001 Dec; 128(23):4691-704.
Score: 0.008
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[Blast study in acute leukemia using monoclonal antibodies]. Rev Med Interna Neurol Psihiatr Neurochir Dermatovenerol Med Interna. 1988 Jan-Feb; 40(1):33-40.
Score: 0.003