Results 151 to 160 of about 4,066 (184)

Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree. [PDF]

Mol Genet Genomic Med
Chen X, Zhao J, Li D, Xi N, Yi D, Yan M, Yin Y, Wang X.   +7 more
europepmc   +1 more source

Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency

, 2007
Masako Izawa, Keiko Aso, Asako Higuchi, Daisuke Ariyasu, Yukihiro Hasegawa   +4 more
openalex   +2 more sources

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
europepmc   +1 more source

Hyperandrogenism-induced Athletic Excellence in a Young Patient with Adrenocortical Carcinoma: 10 Years of Remission. [PDF]

JCEM Case Rep
Kono T, Kono S, Nakamura Y, Fujii Y, Sasano H, Tanaka T.   +5 more
europepmc   +1 more source

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

medRxiv
J. Monlong, Xiao Chen, H. Barseghyan, William J Rowell, Shloka Negi, Natalie J. Nokoff, Lauren Mohnach, J. Hirsch, Courtney Finlayson, Catherine E Keegan, M. Almalvez, S. Berger, Ivan de Dios, B. McNulty, Alexander Robertson, K. Miga, Phyllis W Speiser, B. Paten, E. Vilain, Emmanuèle C. Délot   +19 more
semanticscholar   +1 more source

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

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

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

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

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Yang M, White PC.
europepmc   +1 more source