Results 151 to 160 of about 75,040 (259)

Spatial transcriptomics reveals club cell features and strong CLDN18 expression along the mucinous pathway to invasive mucinous adenocarcinoma

The Journal of Pathology, EarlyView.
Abstract Invasive mucinous adenocarcinoma (IMA) of the lung is a distinct subtype of lung adenocarcinoma with unique clinicopathologic features; however, its histogenesis remains incompletely understood. Although mucinous metaplasia has been suspected as a precursor lesion, direct molecular evidence supporting this progression is limited. In this study,
Joon Young Park, Do Yeon Kim, Hyun Jung Lee, Jung Hee Lee, Hae Ryoun Park, Dong Hoon Shin   +5 more
wiley   +1 more source

Protocol for detecting germline copy number variants from whole-exome sequencing using agent-assisted Snakemake workflows. [PDF]

STAR Protoc
Chen X.
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series. [PDF]

Genes (Basel)
Esen TE, Celik LY, Aydin Gumus A, Ercoskun P, Bozlak S, Gezdirici A, Yavas C, Yilmaz I.   +7 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Fetal Copy Number Variant Detection in Pregnancies with Ultrasound Soft Markers: A Maternal Age-Stratified Retrospective Study. [PDF]

Int J Gen Med
Huang S, Lin L, She L, Liu L, Wu H.
europepmc   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Contribution of copy number variants to schizophrenia in East Asian populations. [PDF]

Nat Genet
Chen Y, Feng Q, Lam M, Yu M, Sun Y, Huai C, Jana B, Fu J, Liao C, Ye R, Kim S, Tubbs JD, Shanta O, Thiruvahindrapuram B, Jen Y, Zhao G, Wang J, Stanley Global Asia Initiatives, Xu J, Shi W, Scherer SW, Zhu F, Liu CM, Guo Z, Howrigan D, Daly M, Neale BM, Sawa A, Sebat J, Talkowski ME, Tang J, Ma X, Chen WJ, Qin S, Yue W, Ge T, Huang H.   +36 more
europepmc   +1 more source

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov   +6 more
wiley   +1 more source