| Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency. | Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M. | 04/1/2024 |
| Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia. | 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. | 01/26/2024 |
| Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. | Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.
Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS, DISSECT Consortium, ImmunoArray Consortium, Swedish Addison Registry Study Group, Bensing S, Pielberg GR, Lindblad-Toh K, Rönnblom L, Kämpe O. | 08/25/2023 |
| The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. | The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA., Free PMC Article | 06/24/2023 |
| Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. | 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. | 01/14/2023 |
| Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Xia Y, Shi P, Gao S, Liu N, Zhang H, Kong X. | 09/3/2022 |
| Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts. | Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.
Berry V, Pontikos N, Ionides A, Kalitzeos A, Quinlan RA, Michaelides M. | 05/14/2022 |
| Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia. | Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
Silva RS, Carvalho B, Pedro J, Castro-Correia C, Carvalho D, Carvalho F, Fontoura M., Free PMC Article | 05/7/2022 |
| Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. | Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Kocova M, Concolino P, Falhammar H., Free PMC Article | 03/19/2022 |
| Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population. | Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA, Amr NH, Toaima NN, Kamal TM, Elsedfy HH. | 03/19/2022 |
| 17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses | 17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses.
Polat S, Arslan YK., Free PMC Article | 03/12/2022 |
| A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase. | A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.
Arriba M, Oriola J, Ezquieta B. | 02/19/2022 |
| Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations. | Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ, Singh S, Ligabue-Braun R, Meneghetti BV, Rispoli T, Kopacek C, Monteiro K, Zaha A, Rossetti MLR, Pandey AV., Free PMC Article | 02/5/2022 |
| Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene. | Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.
Carvalho B, Marques CJ, Santos-Silva R, Fontoura M, Carvalho D, Carvalho F. | 01/15/2022 |
| Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns. | Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
Concolino P, Paragliola RM. | 01/8/2022 |
| Corticosteroid Biosynthesis Revisited: No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase. | Corticosteroid Biosynthesis Revisited: No Direct Hydroxylation of Pregnenolone by Steroid 21-Hydroxylase.
Loke S, Stoll A, Machalz D, Botrè F, Wolber G, Bureik M, Parr MK., Free PMC Article | 01/1/2022 |
| Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia. | Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia.
Somasundaram P S, Hewage S H, De Silva H D. | 12/11/2021 |
| The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease. | The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease.
Wolff AB, Breivik L, Hufthammer KO, Grytaas MA, Bratland E, Husebye ES, Oftedal BE., Free PMC Article | 10/30/2021 |
| Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects. | Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.
Hou B, Jia X, Deng Z, Liu X, Liu H, Yu H, Liu S., Free PMC Article | 10/23/2021 |
| Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations. | Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.
Elmougy F, Elsharkawy M, Hafez M, Atty SA, Baz H, Ibrahim A, Soliman H, Ekladious S, Abdullatif M, Thabet G, Rady N, Afif A, Tolba A, Zaki Z, Musa N. | 10/9/2021 |
| Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency. | Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS, Taboas M, Bruque CD, Benavides-Mori B, Belli S, Stivel M, Oneto A, Pasqualini T, Delea M, Espeche LD, Kolomenski JE, Alba L, Buzzalino N, Dain L. | 09/18/2021 |
| Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two ""Mild"" Mutations. | Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
Ilany J, Liu J, Welsch C, Reznik-Wolf H, Levy-Lahad E, Auchus RJ. | 09/11/2021 |
| Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia. | Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.
Wang W, Han R, Yang Z, Zheng S, Li H, Wan Z, Qi Y, Sun S, Ye L, Ning G. | 09/4/2021 |
| A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia. | 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. | 08/28/2021 |
| Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia. | Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia.
Neves Cruz J, da Costa KS, de Carvalho TAA, de Alencar NAN. | 08/28/2021 |