197 related articles for article (PubMed ID: 15639189)
21. Response to Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".
Marino R; Perez Garrido N; Ramirez P; Belgorosky A
J Clin Endocrinol Metab; 2021 Jun; 106(7):e2837-e2838. PubMed ID: 33901286
[No Abstract] [Full Text] [Related]
22. Letter to the Editor from Lao and Merke: "Ehlers-Danlos Syndrome: Molecular and Clirnical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia".
Lao Q; Merke DP
J Clin Endocrinol Metab; 2021 Jun; 106(7):e2835-e2836. PubMed ID: 33901292
[No Abstract] [Full Text] [Related]
23. Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
Lee HH; Chang SF; Lo FS; Chao HT; Lin CY
Mol Genet Metab; 2003 Jul; 79(3):214-20. PubMed ID: 12855227
[TBL] [Abstract][Full Text] [Related]
24. Mutations in steroid 21-hydroxylase (CYP21).
White PC; Tusie-Luna MT; New MI; Speiser PW
Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391
[TBL] [Abstract][Full Text] [Related]
25. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Levo A; Partanen J
Hum Genet; 1997 Apr; 99(4):488-97. PubMed ID: 9099839
[TBL] [Abstract][Full Text] [Related]
26. Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
Lee HH; Lee YJ; Chao MC
Anal Biochem; 2010 Apr; 399(2):293-8. PubMed ID: 19961824
[TBL] [Abstract][Full Text] [Related]
27. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Chang SF; Lee HH
Genet Test Mol Biomarkers; 2011; 15(1-2):35-42. PubMed ID: 21117955
[TBL] [Abstract][Full Text] [Related]
28. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.
Blanchong CA; Zhou B; Rupert KL; Chung EK; Jones KN; Sotos JF; Zipf WB; Rennebohm RM; Yung Yu C
J Exp Med; 2000 Jun; 191(12):2183-96. PubMed ID: 10859342
[TBL] [Abstract][Full Text] [Related]
29. Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
Koppens PF; Hoogenboezem T; Halley DJ; Barendse CA; Oostenbrink AJ; Degenhart HJ
Eur J Pediatr; 1992 Dec; 151(12):885-92. PubMed ID: 1473541
[TBL] [Abstract][Full Text] [Related]
30. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
Manfras BJ; Swinyard M; Rudert WA; Ball EJ; Lee PA; Kühnl P; Trucco M; Böhm BO
Hum Genet; 1993 Aug; 92(1):33-9. PubMed ID: 8365724
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
Lee HH; Chang JG; Tsai CH; Tsai FJ; Chao HT; Chung B
Clin Chem; 2000 May; 46(5):606-11. PubMed ID: 10794740
[TBL] [Abstract][Full Text] [Related]
34. The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.
Donohoue PA; Guethlein L; Collins MM; Van Dop C; Migeon CJ; Bias WB; Schmeckpeper BJ
Tissue Antigens; 1995 Sep; 46(3 ( Pt 1)):163-72. PubMed ID: 8525475
[TBL] [Abstract][Full Text] [Related]
35. [Adrenogenital syndrome. II. Molecular biology].
Koppens PF; Hoogenboezem T; Degenhart HJ
Tijdschr Kindergeneeskd; 1991 Feb; 59(1):1-8. PubMed ID: 1674383
[TBL] [Abstract][Full Text] [Related]
36. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Wedell A
Clin Lab Med; 1996 Mar; 16(1):125-37. PubMed ID: 8867587
[TBL] [Abstract][Full Text] [Related]
37. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB; Soardi FC; Bernardi RD; de Araújo M; Paulino LC; Lau IF; Petroli RJ; de Lemos-Marini SH; Baptista MT; Guerra-Júnior G; de-Mello MP
BMC Med Genet; 2010 Jun; 11():104. PubMed ID: 20587039
[TBL] [Abstract][Full Text] [Related]
38. CYP21 mutations and congenital adrenal hyperplasia.
Lee HH
Clin Genet; 2001 May; 59(5):293-301. PubMed ID: 11359457
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]