Results 121 to 130 of about 2,980 (198)

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. [PDF]

Risk Manag Healthc Policy
Chen Y, Yu Q, Ge L, Weng L, Pan X, Zhou X, Zhou N, Wang Y, Jia J, Li H.   +9 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

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

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 more
europepmc   +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

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

8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH [PDF]

А.Г. Матвеева, Yingtong Xu, Véronique Tardy-Guidollet, Amit V. Pandey   +3 more
openalex   +1 more source

Нарушения в гене CYP21A2 у женщин с привычным невынашиванием беременности

Журнал акушерства и женских болезней, 2012
Невынашивание беременности (НБ) — одна из основных проблем современной репродуктологии. Частота НБ на сегодняшний день составляет 15–27 %. В структуре данной патологии привычное невынашивание беременности (ПНБ) (наличие трех и более случаев спонтанных абортов в анамнезе) достигает 20 %. Популяционная частота ПНБ колеблется от 2 до 5 %.
openaire   +1 more source

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients. [PDF]

J Ovarian Res
Huang Y, Jiang H, Zhu X, Mao A, Cui D, Zhao Y, Wang Y, Long X, Qiao J.   +8 more
europepmc   +1 more source

Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect [PDF]

, 2009
Stephanie Kleinle, Rita Lang, Gottfried Fischer, H. Vierhapper, Franz Waldhauser, Manuela Födinger, Sabina Baumgartner‐Parzer   +6 more
openalex   +1 more source