Results 121 to 130 of about 7,344,533 (183)

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. [PDF]

J Transl Med
Zhao Z, Zhao G, Li S, Yuan C, Feng J, Tang W, Fu X, Li H, Zhu J, Zhao X, Wu D, Kong X.   +11 more
europepmc   +1 more source

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. [PDF]

Eur J Hum Genet
Lildballe DL, Huno MR, Ridder LOR, Balle CM, Drue SO, Berglund A, Dunø M, Bak EN, Viuff MH, Rasmussen LS, Gravholt CH.   +10 more
europepmc   +1 more source

Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic <i>MAX</i> variant. [PDF]

JCEM Case Rep
Parisien-La Salle S, Legault J, Dumas N, Arjane P, Trudel D, Bourdeau I.   +5 more
europepmc   +1 more source

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview. [PDF]

Pharmaceuticals (Basel)
Fanis P, Skordis N, Tomazou M, Phylactou LA, Neocleous V.   +4 more
europepmc   +1 more source

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source

Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Dayno AN, Kilberg MJ, Gonter E, Gallop R, Squicciarini J, Montano C, Vogiatzi MG.   +6 more
europepmc   +1 more source

Menarche in the third decade: congenital adrenal hyperplasia masquerading as Mayer-Rokitansky-Küster-Hauser syndrome. [PDF]

JCEM Case Rep
A V Alekya L, Mashetty S, Guddeti A, Manasa CVS, Bora A, Hari'Kumar KVS.   +5 more
europepmc   +1 more source

Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]

Genes (Basel)
Wozniak J, Stachowiak M, Switonski M, Nowacka-Woszuk J.   +3 more
europepmc   +1 more source

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. [PDF]

Orphanet J Rare Dis
Yang Y, Wang Y, Zhang B, Yu B.
europepmc   +1 more source

Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus. [PDF]

Cureus
Gomes C, Bravo M, Goncalves Marques A, Rosmaninho-Salgado J, Mirante A.   +4 more
europepmc   +1 more source