Results 31 to 40 of about 8,125 (164)
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 +7 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
Zhongguo shiyan zhenduanxue, 2014 目的探讨严重少精子症、无精子症与遗传学的关系。方法采用外周血细胞培养染色体检查和多重PCR技术对142例严重少精子症和178例无精子症患者进行细胞遗传学和Y染色体AZF微缺失检测,同时对100例精液参数正常男性进行AZF微缺失检测作为对照。结果在严重少精子症患者中,染色体异常率为16.20%（23/142）,AZF缺失率为9.86%（14/142）;在无精子症患者中,染色体异常率为19.66%（35/178）,AZF缺失率为11.24%（20/178）;精液参数正常患者未检出AZF微缺失 ...
杨会林, 董晶
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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
Zhongguo shiyan zhenduanxue, 2010 目的探讨Y染色体微缺失与男性无精少精的相关关系和临床意义。方法利用15个Y染色体特异序列标签位点,以多重PCR法对广州军区总医院2006年1月-2008年1月门诊的151例男性不育患者（25例无精症、126例少精症）进行Y染色体微缺失（AZF）检测。对照组为40例已正常生育的男性。结果151例男性不育患者中,AZF缺失8例,总缺失率为5.3%,其中25例无精症不育患者中,AZF缺失3例,缺失率为12%;126例少精症不育患者中,AZF缺失5例,缺失率为4.0%。AZFc和AZFd为缺失热区 ...
叶长烂 +5 more
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Zhongshan Daxue xuebao. Yixue kexue ban, 1999 目的:研究原发性及继发性闭经患者的染色体核型, 探讨各种异常核型的分布情况。方法: 取外周血做淋巴细 胞培养, 制备染色体, 采用G 显带分析或常规染色体检查。结果: 被检的 493 例患者中,268 例为原发性闭经。异常染色体核 型占 41. 8%( 112/268) , 其中以 45,X 及其各种嵌合型最多, 占 65. 2%( 73/112)。46,XY 是原发性闭经另一类常见的异常核型, 占22. 3%( 25/112)。225例继发性闭经中, 异常核型占 9.
方 群 苏雪芳 陈建生 王彩玲 游泽山 张旭昀
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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, 2008 目的探讨Y染色体微缺失与男性特发性不育及非特发性不育间的关系。方法利用染色体核型分析、PCR技术、血清内分泌激素及精浆果糖定量检查,对324例男性不育患者（特发性不育206例,非特发性不育118例）和60例正常生育男性进行研究。结果60例正常男性未检测出微缺失;206例特发性不育患者微缺失20例（20/206,9.71%）;21例染色体异常患者微缺失5例（5/21,23.81%）;91例精索静脉曲张患者微缺失10例（10/91,1 0.99%）;2例唯支持细胞综合症和4例高泌乳素血症患者未见缺失 ...
戴汝琳 +5 more
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Zhongguo shiyan zhenduanxue, 2007 目的探讨精子密度与染色体畸变及生殖激素水平之间的关系。方法采用计算机辅助精液分析进行精液常规参数检测;采集外周血淋巴细胞培养,进行染色体核型分析;采用放射免疫分析法检测血清生殖激素水平。结果精子密度与FSH之间呈显著负相关性（r=-0.562 ...
李付彪 +5 more
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