Alexandra Dumitrescu to Male
This is a "connection" page, showing publications Alexandra Dumitrescu has written about Male.
Connection Strength
0.624
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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency. Genet Med. 2024 Dec; 26(12):101280.
Score: 0.046
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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: 0.040
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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: 0.038
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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: 0.034
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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: 0.033
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Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation. PLoS One. 2014; 9(5):e96915.
Score: 0.022
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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: 0.021
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Inherited defects in thyroid hormone cell-membrane transport and metabolism. Best Pract Res Clin Endocrinol Metab. 2014 Mar; 28(2):189-201.
Score: 0.021
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Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8.
Score: 0.018
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.017
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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: 0.016
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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: 0.013
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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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X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6.
Score: 0.012
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Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients. Thyroid. 2024 Nov; 34(11):1435-1443.
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: 0.011
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.010
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AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859.
Score: 0.010
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Dietary Selenium Deficiency Partially Mimics the Metabolic Effects of Arsenic. Nutrients. 2021 Aug 23; 13(8).
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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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: 0.009
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.009
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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: 0.009
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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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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
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: 0.008
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A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. Thyroid. 2018 09; 28(9):1221-1223.
Score: 0.008
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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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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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An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066.
Score: 0.007
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The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94.
Score: 0.006
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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: 0.006
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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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Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23.
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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Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9.
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: 0.005
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Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91.
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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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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A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8.
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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A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
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 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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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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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