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

311 related items for PubMed ID: 35140681

  • 1. Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Kocova M, Concolino P, Falhammar H.
    Front Endocrinol (Lausanne); 2021; 12():788812. PubMed ID: 35140681
    [Abstract] [Full Text] [Related]

  • 2. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
    Concolino P, Perrucci A, Carrozza C, Urbani A.
    Mol Diagn Ther; 2023 Sep; 27(5):621-630. PubMed ID: 37548905
    [Abstract] [Full Text] [Related]

  • 3. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U.
    Front Endocrinol (Lausanne); 2023 Sep; 14():1134133. PubMed ID: 37008950
    [Abstract] [Full Text] [Related]

  • 4. First insights into the genetics of 21-hydroxylase deficiency in the Roma population.
    Kocova M, Anastasovska V, Petlichkovski A, Falhammar H.
    Clin Endocrinol (Oxf); 2021 Jul; 95(1):41-46. PubMed ID: 33605469
    [Abstract] [Full Text] [Related]

  • 5. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
    Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology.
    Horm Res Paediatr; 2019 Jul; 91(1):33-45. PubMed ID: 30889569
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 10; 165(Pt A):51-56. PubMed ID: 27041116
    [Abstract] [Full Text] [Related]

  • 8. Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.
    Karaoğlan M, Nacarkahya G, Aytaç EH, Keskin M.
    J Endocrinol Invest; 2021 Nov 10; 44(11):2395-2405. PubMed ID: 33677812
    [Abstract] [Full Text] [Related]

  • 9. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Nov 10; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 10. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 10; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 11. Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
    Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J.
    Mol Genet Genomic Med; 2019 Jun 10; 7(6):e671. PubMed ID: 30968594
    [Abstract] [Full Text] [Related]

  • 12. Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.
    Aycan Z, Keskin M, Lafcı NG, Savaş-Erdeve Ş, Baş F, Poyrazoğlu Ş, Öztürk P, Parlak M, Ercan O, Güran T, Hatipoğlu N, Uçaktürk SA, Çatlı G, Akyürek N, Önder A, Kılınç S, Çetinkaya S.
    Eur J Med Genet; 2022 Dec 10; 65(12):104654. PubMed ID: 36343887
    [Abstract] [Full Text] [Related]

  • 13. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.
    Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, Krebs M, Kautzky-Willer A, Kirchheiner K, Luger A, Bayerle-Eder M.
    J Sex Med; 2019 Oct 10; 16(10):1529-1540. PubMed ID: 31447379
    [Abstract] [Full Text] [Related]

  • 14. CYP21A2 intronic variants causing 21-hydroxylase deficiency.
    Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E.
    Metabolism; 2017 Jun 10; 71():46-51. PubMed ID: 28521877
    [Abstract] [Full Text] [Related]

  • 15. A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
    Anastasovska V, Kocova M, Zdraveska N, Stojiljkovic M, Skakic A, Klaassen K, Pavlovic S.
    Endocrine; 2021 Jul 10; 73(1):196-202. PubMed ID: 33715135
    [Abstract] [Full Text] [Related]

  • 16. The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
    Karaoglan M.
    J Pediatr Endocrinol Metab; 2019 Dec 18; 32(12):1311-1320. PubMed ID: 31693496
    [Abstract] [Full Text] [Related]

  • 17. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
    Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L.
    Clin Chem Lab Med; 2008 Dec 18; 46(12):1707-13. PubMed ID: 18973462
    [Abstract] [Full Text] [Related]

  • 18. 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 18; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 19. Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.
    Saraf S, Srivastava P, Panigrahi I, Seenappa V, Kumar R, Yadav J, Daniel R, Dayal D.
    Indian J Pediatr; 2024 Feb 18; 91(2):137-142. PubMed ID: 35094236
    [Abstract] [Full Text] [Related]

  • 20. Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.
    Kurzyńska A, Skalniak A, Franson K, Bistika V, Hubalewska-Dydejczyk A, Przybylik-Mazurek E.
    Hormones (Athens); 2022 Jun 18; 21(2):241-249. PubMed ID: 35079965
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.