Results 21 to 30 of about 14,657 (163)

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

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, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
wiley   +1 more source

Abstracts of the 79th Annual Meeting of the Japanese Cancer Association; 2020 Oct 1‐3; Hiroshima, Japan as Cancer Science, Supplement 1, Vol 112 (2021)

, 2021
Cancer Science, Volume 112, Issue S1, Page 1-1072, February 2021.
wiley   +1 more source

Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide

Veterinary Dermatology, Volume 35, Issue 6, Page 617-625, December 2024.
Background – Autosomal recessive ichthyosis leads to structural or biochemical changes that impair skin barrier function. Hypothesis/Objectives – To assess (1) the phenotype and genotype in a litter of Jack Russell Terriers with autosomal recessive congenital ichthyosis (ARCI), and (2) the defective skin barrier and determine if a topical ceramide can ...
Elizabeth Mauldin, Charles Bradley, Margret Casal, Jason Meyer, Debra Crumrine, Sarah Kiener, Tosso Leeb, Peter M. Elias   +7 more
wiley   +1 more source

Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT

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, I. Vogel, S. E. Kristensen, L. H. Pedersen, J. Hyett, O. B. Petersen, The Danish Cytogenetic Central Register study group   +6 more
wiley   +1 more source

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta‐analysis

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, J. P. Barbera, E. V. Sambatur, G. Pagani, Y. Yaron, C. D. Baptiste, R. J. Wapner, C. J. Brewer, A. Khalil   +8 more
wiley   +1 more source

Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis

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, C. Sproule, K. W. Choy, Z. Dong, K. Gajewska‐Knapik, M. D. Kilby, F. Mone   +6 more
wiley   +1 more source

脊髄性筋萎縮症に対するVPA投与の再検討：転写の視点から [PDF]

, 2019
博士(医学) 甲第704号(主論文の要旨、要約、審査結果の要旨)博士(医学 ...
高野 梢
core   +1 more source

17种世界首报染色体异常核型遗传分析及与脆性部位关系分析

Zhongguo shiyan zhenduanxue, 2014
目的探讨不育患者中世界首报染色体异常核型与不孕不育及脆性部位的关系。方法采用外周血淋巴细胞染色体培养技术,常规G显带核型分析。结果在2911例不育患者中,共检出异常染色体核型353例,其中世界首次发现染色体异常核型17例,其中平衡易位16例,染色体臂间倒位1例。17例世界首报核型中有15个断裂位点为染色体的脆性部位,所占比例高达44.1%（15/34）。结论染色体异常是导致不良孕产、不孕不育的重要原因之一。染色体断裂位点与脆性部位有紧密的关系。
张清健, 郑立新, 田佩玲, 叶嘉玲, 杨卫, 王柏贤, 徐珊珊, 周冰燚, 赵文忠, 蔡慧娜, 方俊宇, 朱志勇   +11 more
doaj  

242例不孕不育患者外周血染色体核型分析

Zhongguo shiyan zhenduanxue, 2020
目的研究不孕不育患者染色体核型特点并分析其临床特征。方法以在本院2013年8月-2018年8月就诊的242例不孕不育患者为研究对象,采集患者外周血进行淋巴细胞培养,制备染色体标本,进行染色体核型分析。结果 242例不孕不育患者中染色体核型异常有54例,其中染色体结构异常8例,占总不孕不育人数的3.31%;数量异常1例,占总不孕不育人数的0.41%;多态性核型45例,占总不孕不育人数的18.60%。结论染色体数目或结构异常是导致不孕不育的重要原因,因此染色体核型测定能深入了解不孕不育原因 ...
程庆秋, 彭琪, 曾小媚, 梁娇, 梁建行, 陆小梅   +5 more
doaj  

泰安地区2355例孕中期羊水细胞染色体检查结果分析

Zhongguo shiyan zhenduanxue, 2013
我国每年出生缺陷儿童达100万左右,占出生人口4%至6%[1,2]。染色体异常是导致出生缺陷、智力障碍的重要原因,羊水细胞染色体检查是降低染色体异常患儿出生的主要措施。本文对2355例产前诊断病例的临床指征分布情况 ...
李毅
doaj