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Journal Abstract Search

199 related items for PubMed ID: 31666125

  • 1.
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  • 2. A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Lao Q, Mallappa A, Rueda Faucz F, Joyal E, Veeraraghavan P, Chen W, Merke DP.
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1556. PubMed ID: 33332743
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  • 3. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, Hannoush H, Shanbhag SM, Acevedo AT, Nishitani M, Arai AE, McDonnell NB.
    J Clin Endocrinol Metab; 2013 Feb; 98(2):E379-87. PubMed ID: 23284009
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  • 4. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
    Miller WL, Merke DP.
    Horm Res Paediatr; 2018 Feb; 89(5):352-361. PubMed ID: 29734195
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  • 5. Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.
    Morissette R, Chen W, Perritt AF, Dreiling JL, Arai AE, Sachdev V, Hannoush H, Mallappa A, Xu Z, McDonnell NB, Quezado M, Merke DP.
    J Clin Endocrinol Metab; 2015 Aug; 100(8):E1143-52. PubMed ID: 26075496
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  • 6. The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
    Gao Y, Lu L, Yu B, Mao J, Wang X, Nie M, Wu X.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):. PubMed ID: 32291442
    [Abstract] [Full Text] [Related]

  • 7. Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
    Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, Vaiani E, Finkielstain G, Obregón MG, Balbi V, Soria I, Belgorosky A.
    J Clin Endocrinol Metab; 2021 Jun 16; 106(7):e2789-e2802. PubMed ID: 33482002
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  • 9. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
    Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP.
    Hum Mutat; 2016 Sep 16; 37(9):893-7. PubMed ID: 27297501
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  • 11. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
    Lao Q, Brookner B, Merke DP.
    J Mol Diagn; 2019 Sep 16; 21(5):924-931. PubMed ID: 31229653
    [Abstract] [Full Text] [Related]

  • 12. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar 16; 22(1):71-77. PubMed ID: 36264454
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  • 13. CAH-X Syndrome: Genetic and Clinical Profile.
    Concolino P, Falhammar H.
    Mol Diagn Ther; 2022 May 16; 26(3):293-300. PubMed ID: 35476220
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  • 15. The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
    Chen W, Kim MS, Shanbhag S, Arai A, VanRyzin C, McDonnell NB, Merke DP.
    Am J Med Genet A; 2009 Dec 16; 149A(12):2803-8. PubMed ID: 19921645
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