Results 11 to 20 of about 10,437 (155)

Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting

Ultrasound in Obstetrics &Gynecology, Volume 60, Issue 4, Page 487-493, October 2022., 2022
ABSTRACT Objective To investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF). Methods This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 ...
E. Westenius, E. Sahlin, P. Conner, A. Lindstrand, E. Iwarsson   +4 more
wiley   +1 more source

Faecalibacterium prausnitzii‐derived microbial anti‐inflammatory molecule regulates intestinal integrity in diabetes mellitus mice via modulating tight junction protein expression 普拉梭菌活性产物‐微生物抗炎分子通过调控细胞紧密连接蛋白表达修复糖尿病小鼠肠道屏障

Journal of Diabetes, Volume 12, Issue 3, Page 224-236, March 2020., 2020
Highlights Diabetic conditions induce compositional dysbiosis of the gut microbiota and impair gut barrier integrity. Diabetic conditions markedly downregulate the abundance of Faecalibacterium prausnitzii in the gut. Under diabetic conditions, microbial anti‐inflammatory molecules from Faecalibacterium prausnitzii restore the gut barrier and ZO‐1 ...
Jihao Xu, Rongrong Liang, Wang Zhang, Kuangyi Tian, Jieyao Li, Xianming Chen, Tao Yu, Qikui Chen   +7 more
wiley   +1 more source

International clinical practice recommendations on the definition, diagnosis, assessment, intervention, and psychosocial aspects of developmental coordination disorder – Chinese (Mandarin) translation

Developmental Medicine &Child Neurology, Volume 61, Issue 3, Page E1-E35, March 2019., 2019
目的 本国际临床指南由欧洲残疾儿童学会（the European Academy of Childhood Disability，EACD）牵头制定，旨在解决发育性协调障碍（developmental coordination disorder，DCD）的定义、诊断、评估、干预以及与社会心理方面的临床应用关键问题。 方法 本指南针对五个领域的关键问题，通过文献综述和专家团队的正式讨论达成共识。为保证指南的循证基础，以“机制”、“评估”和“干预”为检索词, 对2012年更新以来提出的最新建议以及新增的“社会心理问题”和“青少年/成人”为检索词进行检索。根据牛津大学循证医学中心证据等级 (证据水平 [level of evidence, LOE]1–4) 将结果进行分类，最终转化为指南建议。并由国际 ...
Jing Hua, Wenchong Du, Xiaotian Dai, Meiqin Wu, Xianying Cai, Min Shen, Liping Zhu   +6 more
wiley   +1 more source

Performance of non‐invasive prenatal testing in vanishing‐twin and multiple pregnancies: results of TRIDENT‐2 study

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, C. J. Bax, L. van Prooyen Schuurman, E. C. Becking, A. J. E. M. van der Ven, D. Van Opstal, E. M. J. Boon, M. V. E. Macville, M. N. Bekker, R. J. H. Galjaard, on behalf of the Dutch NIPT Consortium, E.A. Sistermans, L. Henneman, A. Polstra, E. Voorhoeve, S.L. Zelderen‐Bhola, E.M.J. Boon, M.P.R. Lombardi, M.C. Bakker, E.J. Bradley, E.M.J. Boon, C. Louwerens‐Zintel, M. Smit, M.C. van Maarle, M.B. Tan‐Sindhunata, K. van der Meij, H. Meij, C.J. Bax, E. Pajkrt, I.H. Linskens, L. Martin, J.T. Gitsels‐van der Wal, R. J. H. Galjaard, D. van Opstal, M.I. Srebniak, F.M. Sarquis Jehee, I.H.I.M. Hollink, F. Sleutels, W. de Valk, W.H. Deelen, A.M.S. Joosten, K.E.M. Diderich, M.E. Redeker, A.T.J.I. Go, M.F.C.M. Knapen, S. Galjaard, A.K.E. Prinsen, A.P.G. Braat, M.J.V. Hoffer, N.S. den Hollander, E.J.T. Verweij, M.C. Haak, M.V.E. Macville, S.J.C. Stevens, A. van der Wijngaard, L.H. Houben, M.A.A. van Esch‐Lennarts, L. Hamers, A.G.P. Jetten, S.A.I. Ghesquiere, B. de Koning, M. Zamani Esteki, C.J. Heesterbeek, C.E.M. de Die‐Smulders, H. Brunner, M.J. Pieters, A.B.C. Coumans, D.F.C.M. Smeets, B.H.W. Faas, D. Westra, M.M. Weiss, I. Derks‐Prinsen, I. Feenstra, M. van Rij, E. Sikkel, R.F. Suijkerbuijk, B. Sikkema‐Raddatz, I.M. van Langen, K. Bouman, L.K. Duin, G.H. Schuring‐Blom, K.D. Lichtenbelt, M.N. Bekker, E. van Vliet‐Lachotzki, J. Pot, A. J. E. M. van der Ven, S van 't Padje   +86 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

Detection of Aneuploidy Using Suspension Array Technology after Multiplex Ligation-dependent Probe Amplification [PDF]

, 2009
摘要 本论文围绕作为新一代分子诊断技术平台的液相芯片检测平台展开，以染色体非整倍体异常疾病为对象，首次提出结合多重连接探针扩增(MLPA)的液相悬浮芯片技术(又称MLPA-液相悬浮芯片技术)，并且考察该技术在定量分析方面的应用潜力。染色体非整倍体异常疾病是一类因染色体数目增加或减少引起的发病率高的遗传性疾病，是孕妇需要进行产前检查的主要原因之一。因此将染色体非整倍体异常疾病作为检测对象探讨该技术检测拷贝数异常的可行性，既有技术创新性又有实际检测意义。 第一章 ...
曾懿
core  

供精人工授精308例患者术后护理体会 [PDF]

Objective: To discuss artificial insemination lie on your back after the surgery time and to obtain ideal pregnancy outcome. Methods: Thisstudy retrospectively analyzed patients undergoing for pure artificial insemination in in Renji Hospital,Shanghai ...
Gao, Yi, Liu, Hua
core   +2 more sources

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

原发性肝癌实体瘤的细胞遗传学研究 [PDF]

, 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
core  

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