Results 21 to 30 of about 13,390 (117)

Comparative efficacy of selenoureido carbonic anhydrase inhibitors and azole antifungal drugs against clinical isolates of Malassezia pachydermatis

Veterinary Dermatology, Volume 36, Issue 3, Page 302-313, June 2025.
Background – Malassezia pachydermatis (MP) is implicated in severe dermatitis and otitis externa (OE) of companion animals and recently gained attention for its increasing resistance to azole compounds. For this reason, developing novel therapeutic strategies is of great interest. In a previous work, we used reference yeast isolates to evaluate several
Costanza Spadini, Nicolò Mezzasalma, Amienwanlen Eugene Odigie, Andrea Angeli, Fabrizio Carta, Silvia Selleri, Emanuele Gandolfo, Simone Taddei, Valentina Franceschi, Sergio Minesso, Claudiu T. Supuran, Clotilde Silvia Cabassi   +11 more
wiley   +1 more source

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, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

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

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

545例NIPT筛查高风险孕妇的产前诊断结果分析

Zhongguo shiyan zhenduanxue, 2021
目的探讨无创产前基因检测(NIPT)技术在产前诊断中的分析效能和临床应用价值。方法回顾性分析2013年9月至2018年12月于北京大学深圳医院就诊的545例NIPT筛查高风险并接受羊水穿刺孕妇(不包括双胎孕妇)的产前诊断结果。结果 545例NIPT高风险的孕妇中,21-三体165例、18-三体67例、13-三体41例、性染色体数目异常202例、常染色体数目异常49例、缺失或重复序列超过10Mb的结构异常病例21例,结合羊水细胞染色体核型分析发现21、18、13及性染色体NIPT假阳性率分别为11.5 ...
王贺, 肖晓素, 西仁娜依
doaj  

麝鼠染色体组型初步研究

野生动物学报, 1991
本文对麝鼠的染色体组型进行了初步分析研究,结果表明,麝鼠的二倍体染色体数为54,即2n=54,除一对中部着丝点外,其余全部为端部着丝点染色体,在染色体进化方面说明麝鼠的染色体组型是较原始的。
赵文阁, 殷建文, 金爱莲, 张纪平   +3 more
doaj  

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

棕黑锦蛇染色体核型和Ag-NORs研究

野生动物学报, 2011
初步研究了吉林长白山地区的棕黑锦蛇染色体核型及Ag-NORs特征,并与已经报道的安徽产赤峰锦蛇有关特征进行对比。结果表明,吉林长白山地区的棕黑锦蛇染色体2n=36,由8对大型染色体和10对微小染色体组成,可分为A、B和C3组,性染色体属于ZZ/ZW型,Ag-NORs也都位于1对微小染色体上。棕黑锦蛇仅在第8对和W染色体的相对长度和臂比值上与赤峰锦蛇有差异,染色体其他特征,包括数目、形态、染色体类型等,在2蛇之间基本一致。锦蛇属染色体属名变化较大,但多数种类2n=36。棕黑锦蛇和赤峰锦蛇染色体数目相同 ...
汪玉茹, 周正彦, 李丕鹏
doaj