Alexandra Dumitrescu to Pedigree
This is a "connection" page, showing publications Alexandra Dumitrescu has written about Pedigree.
Connection Strength
1.085
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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency. Genet Med. 2024 12; 26(12):101280.
Score: 0.184
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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: 0.133
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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: 0.086
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.067
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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: 0.062
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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305.
Score: 0.055
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Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2026 Feb 20; 111(3):636-647.
Score: 0.051
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.049
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Prevalence of pendrin defects in sudanese families with congenital hypothyroidism. Endocrine. 2025 12; 90(3):1339-1349.
Score: 0.049
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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: 0.045
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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: 0.043
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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: 0.034
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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: 0.033
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.031
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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: 0.029
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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: 0.024
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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: 0.023
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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: 0.022
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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: 0.018
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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: 0.013
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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: 0.012
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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: 0.010
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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: 0.010