Results 11 to 20 of about 3,601 (166)
ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
Veterinary Dermatology, EarlyView.ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
wiley +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest +18 more
wiley +1 more source
Complete androgen insensitivity syndrome, a pedigree gene mutation analysis [PDF]
, 2016 研究背景 雄激素不敏感综合征（AndrogenInsensitivitySyndrome，AIS），是一种常见的男性假两性畸形。是伴X连锁隐性遗传病。患者染色体核型为46，XY，但其X染色体上的雄激素受体（Androgenreceptor，AR）基因存在缺陷，可致雄激素靶器官上的AR出现缺陷，体内的雄激素不能发挥相应的作用而出现相应的临床症状。此疾病可对患者的生殖能力造成不同程度的影响，还可能引发与性发育异常相关的性心理、性行为的异常，并可能给社会和患者家庭造成难以挽回的损失 ...
杨瑞娟
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Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 6, Page 706-715, December 2025.ABSTRACT Objective To evaluate the use of twin vs singleton growth charts for detecting small‐for‐gestational‐age (SGA) twins at risk of adverse neonatal outcomes. Methods MEDLINE, EMBASE, CINAHL, Cochrane and Scopus databases were searched electronically from inception to May 2024.
S. Sorrenti +9 more
wiley +1 more source
Studies of Hyperaccumulation Mechanism of Eucalyptus grandis×E. urophylla to Manganese and Arabidopsis Transporter’s Functions on Metal Transportation and Signaling [PDF]
, 2015 重金属污染已经成为世界性问题，严重威胁人体健康，已引起广泛的关注。植物修复技术作为一种经济、环境友好的土壤污染治理途径，也引起越来越多人的兴趣。只有寻找到更多合适的超富集植物，并且深入研究重金属的耐受和吸收、转运途径，才能有效地控制重金属对作物的污染或者更好发挥超富集植物的修复潜能。 本论文通过矿区筛选，发现了新的诱导型锰超富集植物-巨尾桉。该植物可以在叶片富集大量锰元素。通过实验室水培和ICP-MS联用技术研究其对锰的耐受性、在各组织中的分异 ...
谢清清
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Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 6, Page 738-746, December 2025.ABSTRACT Objective To evaluate the performance of non‐invasive prenatal testing (NIPT) in vanishing‐twin and multiple pregnancies. Methods This study was conducted as part of the TRIDENT‐2 study, in which NIPT was offered as a first‐tier screening test to women with a multiple pregnancy or vanishing‐twin pregnancy between 1 June 2020 and 31 March 2023 ...
J. C. A. van Eekhout +86 more
wiley +1 more source
The development of early attachment: An observation study on an infant throughout the first year [PDF]
, 2011 为深入探讨儿童依恋发生、发展的微观机制，由一名专业的发展心理学研究者采用自然观察法，在一年内（2006.4.14-2007.4.14）每天对一名健康女婴Sunshine（化名）进行客观记录或登记。结果显示，Sunshine的依恋经历了一个由“子宫依恋”（0-1.5个月左右最明显）到“类子宫依恋”（1.5-6个月左右最典型），再到“社会子宫依恋”（6个月以后明显）的发展过程，其中“类子宫依恋”阶段又分为泛化的“类子宫依恋”阶段（1.5-2.5个月左右最典型）与分化的“类子宫依恋”阶段（约2.5 ...
Gu Chuan Hua
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, 2021 目的探讨胎儿肠扭转的产前超声特征及临床预后。方法回顾性分析2017年6月至2021年3月在广东省妇幼保健院超声科进行产前超声检查、超声提示肠扭转或产后证实肠扭转的17例胎儿的超声表现及临床资料，以肠管扩张合并漩涡征或血管螺旋征为诊断肠扭转的标准，并随访胎儿出生后手术病理或引产后尸体解剖结果，追踪其临床预后。结果17例孕妇年龄介于24~40岁，中位数29（26~33）岁；初次诊断肠扭转的孕周介于24~33周，中位数26（24~31）周。17例胎儿在妊娠过程中均出现肠管扩张，16例存在漩涡征 ...
万志彬 +7 more
core +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 6, Page 747-753, December 2025.ABSTRACT Objective Ultrasound‐based fetal growth assessment is an essential part of clinical decision‐making in modern obstetric care. This study aimed to evaluate the impact of maternal and fetal characteristics on the accuracy and precision of sonographic fetal weight estimation.
M. Granfors +4 more
wiley +1 more source
Relationship between abnormal symptoms of Prader-Willi syndrome model --Snord116 deletion mice and Ghrelin signaling pathway [PDF]
, 2016 Prader–Willi综合症是以进食异常和血液Ghrelin异常升高为特征的遗传肥胖症。其病因是Snord116SnoRNA群的表达缺失。我们构建的Snord116del小鼠模型表现出贪食和血液Ghrelin升高等PWS症状。此次研究中，我们繁育野生型（WT）、Snord116del（SW）、Ghrl-/-（WG）、Ghsr-/-（WR）小鼠，并制备[Snord116del，Ghrl-/-]（SG）和[Snord116del，Ghsr-/-]（SR）双敲除小鼠，对其生长发育 ...
甘利芬
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