Results 141 to 150 of about 7,344,533 (183)

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision. [PDF]

Biol Open
Bacila I, Oberski L, Li N, Storbeck KH, Cunliffe VT, Krone N.   +5 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

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

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

J Clin Endocrinol Metab
Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV.   +16 more
europepmc   +1 more source

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations

Journal of Endocrinological Investigation, 2015
Purpose Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease characterized by impaired adrenal steroidogenesis and most often caused by CYP21A2 gene mutations.
Svetlana Vujovic, Maja Stojiljkovic
exaly   +3 more sources

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene

Clinica Chimica Acta, 2014
Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human ...
V Longo, G D´Andrea, Maurizio Margaglione   +2 more
exaly   +2 more sources

A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia

Endocrine, 2021
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the ...
V. Anastasovska, M. Kocova, Nikolina Zdraveska, M. Stojiljković, A. Skakic, K. Klaassen, S. Pavlovic   +6 more
semanticscholar   +2 more sources

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High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia

Endocrine
Anna Simon, Aaron Chapla, H S Asha
exaly   +2 more sources

Analysis of the pathogenic CYP21A2 gene variants in patients with clinical, biochemical and combined manifestations of hyperandrogenism

Journal of obstetrics and women's diseases, 2022
BACKGROUND: The association of heterozygous carriage of pathogenic variants in the CYP21A2 gene with various manifestations of hyperandrogenism remains poorly understood to date.
N. Osinovskaya, O. Glavnova, M. Yarmolinskaya, Iskander Yu. Sultanov, D. Klyuchnikov, N. Tkachenko, Y. Nasykhova, A. Glotov   +7 more
semanticscholar   +1 more source