These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 19921645)

  • 1. 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; 149A(12):2803-8. PubMed ID: 19921645
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
    Kolli V; Kim H; Rao H; Lao Q; Gaynor A; Milner JD; Merke DP
    BMC Res Notes; 2019 Oct; 12(1):711. PubMed ID: 31666125
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
    Miller WL; Merke DP
    Horm Res Paediatr; 2018; 89(5):352-361. PubMed ID: 29734195
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 22(1):71-77. PubMed ID: 36264454
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
    Marino R; Moresco A; Perez Garrido N; Ramirez P; Belgorosky A
    Front Endocrinol (Lausanne); 2022; 13():803226. PubMed ID: 35282436
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital adrenal hyperplasia with a
    Ivo CR; Fitas AL; Madureira I; Diamantino C; Gomes S; Gonçalves J; Lopes L
    J Pediatr Endocrinol Metab; 2023 Jan; 36(1):81-85. PubMed ID: 36259452
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 37(9):893-7. PubMed ID: 27297501
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 106(7):e2789-e2802. PubMed ID: 33482002
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 105(7):. PubMed ID: 32291442
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pseudogene
    Lao Q; Zhou K; Parker M; Faucz FR; Merke DP
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833192
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
    Kim JH; Kim GH; Yoo HW; Choi JH
    Ann Pediatr Endocrinol Metab; 2023 Jun; 28(2):77-86. PubMed ID: 37401054
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
    Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.
    Carrozza C; Foca L; De Paolis E; Concolino P
    Front Endocrinol (Lausanne); 2021; 12():709758. PubMed ID: 34394006
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
    Paragliola RM; Perrucci A; Foca L; Urbani A; Concolino P
    J Clin Med; 2022 Jul; 11(13):. PubMed ID: 35807105
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
    Koppens PF; Hoogenboezem T; Degenhart HJ
    Hum Mol Genet; 2002 Oct; 11(21):2581-90. PubMed ID: 12354783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 21(5):924-931. PubMed ID: 31229653
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CAH-X Syndrome: Genetic and Clinical Profile.
    Concolino P; Falhammar H
    Mol Diagn Ther; 2022 May; 26(3):293-300. PubMed ID: 35476220
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.