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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

168 related items for PubMed ID: 35807105

  • 1. 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 01; 11(13):. PubMed ID: 35807105
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. 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 01; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 30; 12(1):711. PubMed ID: 31666125
    [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 Oct 30; 13():803226. PubMed ID: 35282436
    [Abstract] [Full Text] [Related]

  • 8. Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
    Lao Q, Zhou K, Parker M, Faucz FR, Merke DP.
    Genes (Basel); 2023 Jan 19; 14(2):. PubMed ID: 36833192
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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 19; 98(2):E379-87. PubMed ID: 23284009
    [Abstract] [Full Text] [Related]

  • 11. 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 19; 28(2):77-86. PubMed ID: 37401054
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 21(5):924-931. PubMed ID: 31229653
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 555():117820. PubMed ID: 38307397
    [Abstract] [Full Text] [Related]

  • 14. Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.
    Ivo CR, Fitas AL, Madureira I, Diamantino C, Gomes S, Gonçalves J, Lopes L.
    J Pediatr Endocrinol Metab; 2023 Jan 27; 36(1):81-85. PubMed ID: 36259452
    [Abstract] [Full Text] [Related]

  • 15. 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 27; 37(9):893-7. PubMed ID: 27297501
    [Abstract] [Full Text] [Related]

  • 16. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.
    Miller WL, Merke DP.
    Horm Res Paediatr; 2018 Sep 27; 89(5):352-361. PubMed ID: 29734195
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 18. CAH-X Syndrome: Genetic and Clinical Profile.
    Concolino P, Falhammar H.
    Mol Diagn Ther; 2022 May 10; 26(3):293-300. PubMed ID: 35476220
    [Abstract] [Full Text] [Related]

  • 19. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
    Lee HH.
    Mol Genet Metab; 2005 Jan 10; 84(1):4-8. PubMed ID: 15639189
    [Abstract] [Full Text] [Related]

  • 20. Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.
    Figueras LM, Pacheco RM, González DG, Domènech MA, Zubicaray BE.
    Adv Lab Med; 2023 Sep 10; 4(3):258-267. PubMed ID: 38075167
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.