Results 1 to 10 of about 2,022 (66)

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China. [PDF]

Int J Neonatal Screen
Wang X, Lu X, Zheng F, Lin K, Liao M, Dong Y, Chen T, He Y, Lu M, Chen J, Li Y, Zhou Y.   +11 more
europepmc   +1 more source

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype. [PDF]

Genes (Basel)
de Sousa Azulay RS, Facundo AN, Sousa SSE, Nascimento GC, Magalhães M, de Oliveira Neto CP, de Abreu JDMF, Lago DCF, da Silva Pereira Damianse S, de Carvalho VC, Nascimento CA, Rodrigues VP, Coeli-Lacchini FB, de Castro M, Dos Santos Faria M.   +14 more
europepmc   +1 more source

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +1 more source

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications. [PDF]

J Endocr Soc
Concolino P, Falhammar H.
europepmc   +1 more source

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands. [PDF]

Hum Genomics
Wang Y, Zhu G, Li D, Pan Y, Li R, Zhou T, Mao A, Chen L, Zhu J, Zhu M.   +9 more
europepmc   +1 more source

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis. [PDF]

BMC Med Genomics
Suwanlikit Y, Panthan B, Chitayanan P, Klumsathian S, Charoenyingwattana A, Chantratita W, Trachoo O.   +6 more
europepmc   +1 more source

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer. [PDF]

Sci Rep
Yakubu J, Natsaridis E, du Toit T, Barata IS, Tagit O, Pandey AV.   +5 more
europepmc   +1 more source

Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study. [PDF]

Transl Pediatr
Liang W, Xu F, Lu Y, Chen H, Chen X, Xiao H, Hu L.   +6 more
europepmc   +1 more source

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD. [PDF]

Front Genet
Lan T, Wang J, Chen K, Zhang J, Chen X, Yao H.   +5 more
europepmc   +1 more source

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. [PDF]

Nat Commun
Chen X, Baker D, Dolzhenko E, Devaney JM, Noya J, Berlyoung AS, Brandon R, Hruska KS, Lochovsky L, Kruszka P, Newman S, Farrow E, Thiffault I, Pastinen T, Kasperaviciute D, Gilissen C, Vissers L, Hoischen A, Berger S, Vilain E, Délot E, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Eberle MA.   +22 more
europepmc   +1 more source