Alexandra Dumitrescu to Female
This is a "connection" page, showing publications Alexandra Dumitrescu has written about Female.
Connection Strength
0.505
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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency. Genet Med. 2024 Dec; 26(12):101280.
Score: 0.044
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Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center. BMC Endocr Disord. 2022 Aug 09; 22(1):199.
Score: 0.038
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Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans. Thyroid. 2022 02; 32(2):196-205.
Score: 0.036
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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: 0.032
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Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation. PLoS One. 2014; 9(5):e96915.
Score: 0.021
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Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43.
Score: 0.020
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.016
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Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81.
Score: 0.015
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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: 0.012
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.012
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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nat Genet. 2024 May; 56(5):877-888.
Score: 0.011
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75.
Score: 0.010
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Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948.
Score: 0.010
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.009
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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: 0.009
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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
Score: 0.008
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Selenocysteine insertion sequence binding protein 2 (Sbp2) in the sex-specific regulation of selenoprotein gene expression in mouse pancreatic islets. Sci Rep. 2020 10 29; 10(1):18568.
Score: 0.008
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.008
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Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720.
Score: 0.008
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Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Score: 0.008
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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations. J Clin Endocrinol Metab. 2020 03 01; 105(3).
Score: 0.008
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Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642.
Score: 0.008
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Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782.
Score: 0.008
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Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520.
Score: 0.008
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Paradigms of Dynamic Control of Thyroid Hormone Signaling. Endocr Rev. 2019 08 01; 40(4):1000-1047.
Score: 0.008
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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: 0.008
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.007
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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
Score: 0.007
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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
Score: 0.007
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
Score: 0.007
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Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240.
Score: 0.007
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A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76.
Score: 0.006
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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
Score: 0.006
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Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93.
Score: 0.005
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A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50.
Score: 0.005
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Determination of autophagy gene ATG16L1 polymorphism in human colorectal cancer. Rom J Morphol Embryol. 2014; 55(1):57-62.
Score: 0.005
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The role of Spectral Domain Optical Coherence Tomography in monitoring uncontrolled hypertensive type 2 diabetic patients. J Med Life. 2014; 7 Spec No. 4:65-7.
Score: 0.005
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Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41.
Score: 0.005
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Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71.
Score: 0.005
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Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7.
Score: 0.005
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The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6.
Score: 0.004
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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88.
Score: 0.004
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Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
Score: 0.004
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Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010 May; 151(5):2381-7.
Score: 0.004
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Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009 May; 150(5):2491-6.
Score: 0.004
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Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7.
Score: 0.003
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A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4.
Score: 0.003
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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7.
Score: 0.003
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A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12.
Score: 0.002
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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: 0.002
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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: 0.002
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Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9.
Score: 0.002
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The relationship between aminoaciduria and plasma hemoglobin levels. Rom J Intern Med. 1993 Jul-Sep; 31(3):223-8.
Score: 0.001
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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: 0.001
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[Clinical data on the use of intravenously administered gamma globulin produced by the Castacuzino Institute in different diseases of infectious etiology]. Rev Ig Bacteriol Virusol Parazitol Epidemiol Pneumoftiziol Bacteriol Virusol Parazitol Epidemiol. 1984 Oct-Dec; 29(4):317-24.
Score: 0.001
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[Influencing of the maternal and fetal acid-base equilibrium through labor under analgesia]. Arch Gynakol. 1971 Jun 04; 211(1):287-9.
Score: 0.000