Results 161 to 170 of about 2,980 (198)

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

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

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

A Cross-Tissue Transcriptome-Wide Association Study Reveals Novel Susceptibility Genes for Diabetic Kidney Disease in the FinnGen Cohort. [PDF]

Biomedicines
Liu M, Li Z, Lu Y, Sun P, Chen Y, Yang L.   +5 more
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

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

van der Sanden B, Betz C, Herzog K, Schamschula E, Wimmer K, Vater I, Balachandran S, Chen X, Corominas Galbany J, Timmermans R, Derks R, HiFi Solves EMEA Consortium, Spielmann M, Eberle MA, Gilissen C, Vissers LE, Zschocke J, Bolz HJ, Hoischen A.   +18 more
europepmc   +1 more source

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia. [PDF]

J Mass Spectrom Adv Clin Lab
Lee JH, Lee K, Jun SH, Lee YJ, Shin CH, Lee YA, Song J.   +6 more
europepmc   +1 more source

CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum

Danial Zangene, Hossein Moravej, Homa Ilkhanipoor, Anis Amirhakimi, Zhila Afshar, Mona Entezam   +5 more
openalex   +2 more sources