Results 21 to 30 of about 11,943 (158)
, 1988 本文用G显带技术对15例原发性肝癌实体瘤作细胞遗传学研究。结果表明肝癌细胞染色体数以非整倍体为主,尤以亚二倍体和亚三倍体为多。各例均出现结构异常的染色体,对其中出现频率较高的20个标记染色体作了简要描述,并提及国内己发表的人肝癌细胞株染色体情况 ...
方嬿
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Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis
Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann +7 more
wiley +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2002 【目的】分析胎儿染色体异常的类型以及与产前诊断指征的关系。【方法】有产前诊断指征的1 200 例孕妇, 在 妊娠17 ～ 38 周时取脐血做染色体核型分析。【结果】检出染色体异常核型58 例(4.8 %)。58 例异常核型主要为染色体三体 32 例(55%), 21 三体19 例(33 %);另检出染色体易位10 例(17 %), 染色体倒位8 例(14 %)。在各种产前诊断指征中, 高龄 孕妇检出胎儿异常核型18 例(31 %), 父或母为染色体平衡易位携带者检出胎儿核型与其相同15 例(26 %
陈健生 +4 more
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Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis +5 more
wiley +1 more source
Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 4, Page 470-479, October 2024.ABSTRACT Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed
K. Gadsbøll +6 more
wiley +1 more source
, 2002 【目的】探讨羊膜腔穿刺及脐带穿刺对高危妊娠结局的影响。【方法】对 160 例行羊膜腔穿刺及脐带穿刺的高危妊娠病例进行回 顾性分析。【结果】行产前诊断81 例,检出染色体异常 2 例,重型α或β 地中海贫血分别为 3 例及 1 例, B19 病毒感染合并胎儿畸形 1 例,均实 行了引产术,减少了严重先天缺陷儿的出生。羊水检查测定胎肺成熟度 79 例,适时终止妊娠, 减低了新生儿呼吸窘迫综合征的发生率。对羊 水过少及羊水过多试行了羊膜腔输液及放液治疗。无1 例因穿刺而发生感染、流产、早产者。【结论 ...
刘颖琳 +4 more
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Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 3, Page 312-320, March 2024.ABSTRACT Objectives To determine the incremental diagnostic yield of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify the associated genes and variants.
H. J. Mustafa +8 more
wiley +1 more source
Influence of Group Cognitive Behavioral Therapy on Pregnancy Outcomes among Pregnant Women with Gestational Diabetes Mellitus: a Propensity Score Matching Study [PDF]
, 2023 Background Gestational diabetes mellitus (GDM) is a common complication during pregnancy. However, the adherence to individualized medical nutrition therapy (IMNT) alone among GDM women is poor and the impact of group cognitive behavioral therapy (GCBT ...
CHE Guoyu, MA Aqin, YANG Lan, LI Jing, WANG Ling
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Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 1, Page 15-23, January 2024.ABSTRACT Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ...
N. Shreeve +6 more
wiley +1 more source
Zhongguo shiyan zhenduanxue, 2014 自然流产是妇产科的一种常见病,目前国内的定义是指妊娠不足28周、胎儿体重不足120000g而终止者,发病的几率约为15%-40%[1]。在导致早期自然流产的众多因素中最常见的是染色体的异常,约占60%[2]。本文就近几年对染色体异常的多种检测技术的应用进展进行综述。染色体的异常包括染色体结构异常和染色体数目异常,而数目异常则是最常见的原因。目前,临床应用最广泛的是绒毛培养结合染色体核型分析技术,能够发现所有染色体的数目异常和结构异常。
韩松, 林艳茹, 马晓艳, 滕红
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