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36 in total

1. Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Authors: A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna
Journal: J Med Genet Date: 1998-12 Impact factor: 6.318

2. Characterization of gene rearrangements and gene conversion events in the 21-hydroxylase gene.

Authors: S C Ramsden; P J Sinnott
Journal: Methods Mol Med Date: 1996

3. Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe.

Authors: A A Killeen; S Seelig; R A Ulstrom; H T Orr
Journal: Am J Med Genet Date: 1988-03

4. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.

Authors: P W Speiser; P C White; J Dupont; D Zhu; A B Mercado; M I New
Journal: Hum Genet Date: 1994-04 Impact factor: 4.132

5. Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel.

Authors: S F Siegel; E P Hoffman; M Trucco
Journal: Biochem Med Metab Biol Date: 1994-02

6. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.

Authors: J Fitness; N Dixit; D Webster; T Torresani; R Pergolizzi; P W Speiser; D J Day
Journal: J Clin Endocrinol Metab Date: 1999-03 Impact factor: 5.958

7. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

Authors: P C White; A Vitek; B Dupont; M I New
Journal: Proc Natl Acad Sci U S A Date: 1988-06 Impact factor: 11.205

8. Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.

Authors: R H Reindollar; B C Su; S R Bayer; M R Gray
Journal: Am J Obstet Gynecol Date: 1992-01 Impact factor: 8.661

9. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

Authors: Y Higashi; H Yoshioka; M Yamane; O Gotoh; Y Fujii-Kuriyama
Journal: Proc Natl Acad Sci U S A Date: 1986-05 Impact factor: 11.205

10. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.

Authors: R C Wilson; A B Mercado; K C Cheng; M I New
Journal: J Clin Endocrinol Metab Date: 1995-08 Impact factor: 5.958

5 in total

1. Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).

Authors: Dianne Keen-Kim; Joy B Redman; Reno U Alanes; Michele M Eachus; Robert C Wilson; Maria I New; Jon M Nakamoto; Raymond G Fenwick
Journal: J Mol Diagn Date: 2005-05 Impact factor: 5.568

2. Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Authors: Steven F Dobrowolski; Richard A Banas; Joseph G Suzow; Michelle Berkley; Edwin W Naylor
Journal: J Mol Diagn Date: 2003-02 Impact factor: 5.568

3. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Authors: Fernanda B Coeli; Fernanda C Soardi; Renan D Bernardi; Marcela de Araújo; Luciana C Paulino; Ivy F Lau; Reginaldo J Petroli; Sofia H V de Lemos-Marini; Maria T M Baptista; Gil Guerra-Júnior; Maricilda P de-Mello
Journal: BMC Med Genet Date: 2010-06-29 Impact factor: 2.103

4. In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

Authors: Michal Cohen; Emanuele Pignatti; Monica Dines; Adi Mory; Nina Ekhilevitch; Rachel Kolodny; Christa E Flück; Dov Tiosano
Journal: Int J Mol Sci Date: 2020-08-14 Impact factor: 5.923

Review 5. Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.

Authors: Mahsa Kolahdouz; Zahra Mohammadi; Parisa Kolahdouz; Masoud Tajamolian; Hossein Khanahmad
Journal: Adv Biomed Res Date: 2015-08-31

5 in total