Results 191 to 200 of about 6,020 (257)

A novel cAMP‐dependent regulatory region including a sequence like the cAMP‐responsive element, far upstream of the human CYP21A2 gene [PDF]

, 1993
Nobuaki Watanabe, Masaru KITAZUME, Jun-ichi Fujisawa, Mitsuaki Yoshida, Yoshiaki Fujii‐Kuriyama   +4 more
openalex   +1 more source

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
europepmc   +1 more source

Predisposition for de Novo Gene Aberrations in the Offspring of Mothers with a Duplicated CYP21A2 Gene [PDF]

, 2006
Sabina Baumgartner‐Parzer, Gottfried Fischer, H. Vierhapper   +2 more
openalex   +1 more source

CYP21A2 wt Allele [PDF]

, 2020
openaire   +1 more source

Complex Alleles of CYP21A2 Are the Most Frequent Causes of Congenital Adrenal Hyperplasia in Iranian Population

, 2019
Neda Asghari Kollahi, Farzaneh Rohani, Fahimeh Baghbani, Azadeh Shojaei   +3 more
openalex   +2 more sources

Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency [PDF]

, 2007
Rogério Santiago Araújo, Berenice B. Mendonça, Angela Silva Barbosa, Chin Jia Lin, José Antônio Miguel Marcondes, Ana Elisa C. Billerbeck, Tânia A.S.S. Bachega   +6 more
openalex   +1 more source

DENND5B Gene Expression as a Trigger for the Development of Diabetes Mellitus-Peripheral Artery Disease: Insights from a Univariate and Multivariate Mendelian Randomization Study. [PDF]

Glob Heart
Li Q, Cao F, Gao X, Xu Y, Li B, Hu T.
europepmc   +1 more source

P776: Classification of c.293-7C>G in the CYP21A2 gene: Contributor to congenital adrenal hyperplasia or simply a passenger variant?

Rosalie M. Sterner, Michelle L. Kluge, Heather Glessner, Katrina E. Kotzer, Emily Thoreson, Elyse Love, Matthew Schultz, Ann M. Moyer   +7 more
openalex   +1 more source

Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients. [PDF]

Front Reprod Health
Sharma N, Halder A, Kaushal S, Kumar M, Jain M.   +4 more
europepmc   +1 more source

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Yang M, White PC.
europepmc   +1 more source