Results 121 to 130 of about 4,066 (184)

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

Detecção de mutações no gene CYP21A2 em crianças com suspeita de Hiperplasia Adrenal Congênita no Estado do Rio Grande do Sul

, 2016
Mayara Jorgens Prado
openalex   +1 more source

Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation

, 2005
Rogério Santiago Araújo, Ana Elisa C. Billerbeck, Guiomar Madureira, Berenice B. Mendonça, Tânia A.S.S. Bachega   +4 more
openalex   +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

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

, 2010
Eliécer Coto, Beatriz Tavira, Rafael Marín, Francisco Ortega, Carlos López‐Larrea, Marta Ruiz‐Ortega, Alberto Ortíz, Marta Díaz, Ana I. Corao, Belén Alonso, Victoria Álvarez   +10 more
openalex   +2 more sources

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia [PDF]

, 2016
Ruqayah G. Y. Al‐Obaidi, Bassam Musa Sadik Al-Musawi, Munib A. Alzubaidi, Christian Oberkanins, S Németh, Yusra G. Y. Al-Obaidi   +5 more
openalex   +1 more source

Causal associations between congenital adrenal hyperplasia and neuropsychiatric conditions- a Mendelian Randomization Study. [PDF]

Endocrine
Liu Y, Gang X, Gao Y, Wang G.
europepmc   +1 more source

PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

, 2021
Zachary Stephens, Dragana Milošević, Benjamin R. Kipp, Stefan K. Grebe, Ravishankar K. Iyer, Jean‐Pierre Kocher   +5 more
openalex   +1 more source

Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant. [PDF]

Ther Adv Endocrinol Metab
Bilici ME, Iklar Z, Özsu E, Aycan Z, Uyanık R, Ceran A, Berberoğlu M.   +6 more
europepmc   +1 more source

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]

JCEM Case Rep
Yousaf S, Nizar R, Alias G, Taylor D, Fulton P, Antoniadi T.   +5 more
europepmc   +1 more source