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 *

157 related articles for article (PubMed ID: 38307397)

  • 1. Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.
    Zhang R; Cui D; Song C; Ma X; Cai N; Zhang Y; Feng M; Cao Y; Chen L; Qiang R
    Clin Chim Acta; 2024 Mar; 555():117820. PubMed ID: 38307397
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
    Li H; Zhu X; Yang Y; Wang W; Mao A; Li J; Bao S; Li J
    Clin Chim Acta; 2023 Jul; 547():117419. PubMed ID: 37276943
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
    Liu Y; Chen M; Liu J; Mao A; Teng Y; Yan H; Zhu H; Li Z; Liang D; Wu L
    Clin Chem; 2022 Jul; 68(7):927-939. PubMed ID: 35714169
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.
    Yuan D; Cai R; Mao A; Tan J; Zhong Q; Zeng D; Tang N; Wei X; Huang J; Zhang Y; Chen D; Yang J; Li Y; Zheng X; Li J; Li D; Yan T
    J Mol Diagn; 2024 Sep; 26(9):770-780. PubMed ID: 38925455
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
    Monteiro A; Pavithran PV; Puthukulangara M; Bhavani N; Nampoothiri S; Yesodharan D; Kumaran R
    Hormones (Athens); 2023 Jun; 22(2):311-320. PubMed ID: 36952211
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q; Burkardt DD; Kollender S; Faucz FR; Merke DP
    Mol Genet Genomic Med; 2023 Jul; 11(7):e2195. PubMed ID: 37157918
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A; Longo V; Dimatteo C; De Girolamo G; Trunzo R; D'Andrea G; Bafunno V; Margaglione M; Santacroce R
    Clin Chim Acta; 2014 Nov; 437():48-51. PubMed ID: 25025300
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.