Results 181 to 190 of about 6,020 (257)

A public health success: newborn screening for congenital adrenal hyperplasia in a middle-income Brazilian state. [PDF]

J Pediatr (Rio J)
Grosse SD.
europepmc   +1 more source

The cyp21a2 mutant medaka, a novel cortisol-deficiency disease model, reveals a new role of cortisol in reproduction [PDF]

doctoral ...
CARRANZA LUNA, José Alexander
core  

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

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics

, 2011
Paola Concolino, Enrica Mello, Angelo Minucci, Cecilia Zuppi, Ettore Capoluongo   +4 more
openalex   +1 more source

Characterization of the pathogenic variants landscape in 21-hydroxylase deficiency [PDF]

, 2022
Berta Cecília Campos Lima de Carvalho
core  

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.

European Journal of Medical Genetics
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang   +8 more
semanticscholar   +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

21-Hydroxylase gene mutant allele CYP21A2∗15 strongly linked to the resistant HLA haplotype B∗14:02-DRB1∗01:02 in chronic Chagas disease

, 2013
Florencia del Puerto, Mihoko Kikuchi, Juan Eiki Nishizawa, Yelin Roca, Cinthia Avila, Alberto Gianella, Javier Lora, Freddy Udalrico Gutierrez Velarde, Kenji Hirayama   +8 more
openalex   +2 more sources

Genomic complexity and clinical significance of the RCCX locus. [PDF]

PeerJ
Shiryagin VV, Devyatkin AA, Fateev OD, Petriaikina ES, Bogdanov VP, Antysheva ZG, Volchkov PY, Yudin SM, Woroncow M, Skvortsova VI.   +9 more
europepmc   +1 more source

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency [PDF]

J Clin Res Pediatr Endocrinol
Odabaşı Güneş S, Peltek Kendirci HN, Ünal E, Buluş AD, Dündar İ, Şıklar Z.   +5 more
europepmc   +1 more source