Results 161 to 170 of about 5,009 (204)

Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency. [PDF]

Diagnostics (Basel)
Qiu R, Yang T, Shang C, Zhu W, Zheng F.
europepmc   +1 more source

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +1 more source

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients. [PDF]

Eur J Pediatr
Paparella R, Panvino F, Pucarelli I, Niceta M, Spaziani M, Spalice A, Pisani F, Ardizzone I, Tarani L.   +8 more
europepmc   +1 more source

Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report. [PDF]

AJP Rep
Yin Y, Huang X, Shi Y, Huang C, Yu J, Liu Q.   +5 more
europepmc   +1 more source

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source

Unveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge. [PDF]

Cureus
Kummari S, Krishna Sravya M, R M.
europepmc   +1 more source

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree. [PDF]

Hum Mutat
Zhou W, Liu F, Li S, Wu D, Yang J.
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. [PDF]

Sci Rep
Claps A, Claps A, Kolomenski JE, Fernández F, Macchiaroli N, Ingravidi ML, Delea M, Fernández C, Castro T, Laiseca J, Kamenetzky L, Taboas M, Dain L.   +12 more
europepmc   +1 more source

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations. [PDF]

Front Pediatr
Zeng J, Huang X, Li Y, Yan T, Lou J, Lyu G, Li Y.   +6 more
europepmc   +1 more source