Results 151 to 160 of about 3,461 (195)

Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care. [PDF]

EBioMedicine
Bar L, Darrah RJ, Vaidyanathan S.
europepmc   +1 more source

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency. [PDF]

Front Endocrinol (Lausanne)
Sappl A, Sriramachandran AM, Lottspeich C, Vill K, Morak M, Welp AC, Dervishi O, Bidlingmaier M, Kunz S, Reisch N.   +9 more
europepmc   +1 more source

Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics. [PDF]

Arch Sex Behav
Meoded Danon L, Paperna T, Daum H, Zuckerman S.   +3 more
europepmc   +1 more source

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics. [PDF]

Front Endocrinol (Lausanne)
Chong H, Xue G, Pi Y, Zhang Y, Li Y, Xing Y, Chen B, Zhang H.   +7 more
europepmc   +1 more source

Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report [PDF]

J Clin Res Pediatr Endocrinol
Rizzuto P, Gangat M, Khattab A, Marshall I.   +3 more
europepmc   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source

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

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Journal of Endocrinological Investigation, 2014
To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene.Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on ...
Skordis, N., Shammas, C., Phedonos, A. A. P., Kyriakou, A., Toumba, M., Neocleous, V., Phylactou, L. A.   +6 more
exaly   +4 more sources