Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. [PDF]
Eur J Hum GenetLildballe DL +10 more
europepmc +1 more source
Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia [PDF]
, 2015 core +1 more source
Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]
Case Rep EndocrinolFylaktou I +4 more
europepmc +1 more source
Dihydrotanshinone as a Natural Product-Based CYP17A1 Lyase Inhibitor for Hyperandrogenic Disorders. [PDF]
BiomoleculesLi K +3 more
europepmc +1 more source
Нарушения в гене CYP21A2 у женщин с привычным невынашиванием беременности
Журнал акушерства и женских болезней, 2012 Невынашивание беременности (НБ) — одна из основных проблем современной репродуктологии. Частота НБ на сегодняшний день составляет 15–27 %. В структуре данной патологии привычное невынашивание беременности (ПНБ) (наличие трех и более случаев спонтанных абортов в анамнезе) достигает 20 %. Популяционная частота ПНБ колеблется от 2 до 5 %.
openaire +1 more source
MutaCYP: Classification of missense mutations in human cytochromes P450 [PDF]
, 2014 core +1 more source
Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]
Genes (Basel)Wozniak J +3 more
europepmc +1 more source
Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus. [PDF]
CureusGomes C +4 more
europepmc +1 more source
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. [PDF]
Orphanet J Rare DisYang Y, Wang Y, Zhang B, Yu B.
europepmc +1 more source
Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. [PDF]
J Enzyme Inhib Med ChemFu R +5 more
europepmc +1 more source