Results 201 to 210 of about 35,670 (271)

Maria Iandolo New (1928-2024): Pioneering pediatric endocrinologist. [PDF]

Proc Natl Acad Sci U S A
White PC, Miller WL.
europepmc   +1 more source

CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands [PDF]

, 2000
Paul F. J. Koppens, Theo Hoogenboezem, H J Degenhart   +2 more
openalex   +1 more source

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency [PDF]

J Clin Res Pediatr Endocrinol
Odabaşı Güneş S, Peltek Kendirci HN, Ünal E, Buluş AD, Dündar İ, Şıklar Z.   +5 more
europepmc   +1 more source

Effect of Treatment on Steroidome in Women with Multiple Sclerosis. [PDF]

Int J Mol Sci
Hill M, Kancheva R, Velíková M, Kančeva L, Včelák J, Ampapa R, Židó M, Štětkářová I, Libertínová J, Vosátková M, Vítků J, Kolátorová L, Škodová T, Kubala Havrdová E.   +13 more
europepmc   +1 more source

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

, 1988
M Amor, K L Parker, Hadas Globerman, Maria I. New, Perrin C. White   +4 more
openalex   +1 more source

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]

, 2002
Paul F. J. Koppens
openalex   +1 more source

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.

, 1987
F. Harada, Akinori Kimura, T. Iwanaga, K Shimozawa, Junichi Yata, Takehiko Sasazuki   +5 more
openalex   +1 more source

Deletion of the C4-CYP21 Repeat Module Leading to the Formation of a Chimeric CYP21P/CYP21 Gene in a 9.3-kb Fragment as a Cause of Steroid 21-Hydroxylase Deficiency [PDF]

, 2003
Hsien-Hsiung Lee, Shwu‐Fen Chang, Yann-Jinn Lee, Salmo Raskin, Shio-Jean Lin, Mei‐Chyn Chao, Fu-Sung Lo, Ching‐Yu Lin   +7 more
openalex   +1 more source

CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline".

J Clin Endocrinol Metab, 2019
europepmc   +1 more source

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene [PDF]

, 2003
Paul F. J. Koppens
openalex   +1 more source