Results 141 to 150 of about 4,947 (206)

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

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

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

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

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

Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care. [PDF]

EBioMedicine
Bar L, Darrah RJ, Vaidyanathan S.
europepmc   +1 more source

A kardiovaszkuláris rizikó és a C4B gén hiányos haplotípusok közötti kapcsolat mechanizmusának vizsgálata [PDF]

, 2014
Bánlaki Zsófia
core   +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

[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wang CJ, Zhang YW, Liu DP, Jin J, Li ZH, Guo J, Zhang YD, Yang HH, Kang WQ.   +8 more
europepmc   +1 more source

Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics. [PDF]

Arch Sex Behav
Meoded Danon L, Paperna T, Daum H, Zuckerman S.   +3 more
europepmc   +1 more source