Results 101 to 110 of about 124,374 (336)

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun, Damien Meng Kiat Leow, Loo Chien Wang, Michelle Yating Eio, Hiromi W. L. Koh, Zi Jian Khong, Gunaseelan Narayanan, Aloysius Kai Soon Teo, Richard Giadone, Radoslaw M. Sobota, Shi Yan Ng, Adrian Kee Keong Teo, Wei Yi Ong, Lee L. Rubin, Basil T. Darras, Crystal J. J. Yeo   +15 more
wiley   +1 more source

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

Frontiers in Genetics
BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek, Jakub Staniczek, Jakub Staniczek, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Krzysztof Sodowski, Agata Włoch, Agata Włoch, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Rafał Stojko, Agnieszka Drosdzol-Cop, Agnieszka Drosdzol-Cop   +24 more
doaj   +1 more source

Aster tongrenensis (Asteraceae), a remarkable new species from Guizhou, China

Nordic Journal of Botany, EarlyView.
Aster tongrenensis (Asteraceae), a remarkable new species from Guizhou, China, is here described, illustrated and compared with related taxa based on integrated evidence from morphology, micromorphology and molecular phylogeny. Morphological and micromorphological observations indicate that A. tongrenensis is most similar to A.
Zhi‐Xin Quan, Lin‐Dong Duan, Wei‐Ping Li, Jia‐Wei Xiao   +3 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

karyotype

Citation: 'karyotype' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10872 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +2 more sources

Chromosomal microarray versus karyotyping for prenatal diagnosis.

New England Journal of Medicine, 2012
R. Wapner, C. Martin, B. Levy, B. Ballif, C. Eng, J. Zachary, Melissa Savage, L. Platt, D. Saltzman, W. Grobman, S. Klugman, T. Scholl, J. Simpson, K. McCall, V. Aggarwal, B. Bunke, O. Nahum, Ankita Patel, A. Lamb, E. Thom, A. Beaudet, D. Ledbetter, L. Shaffer, L. Jackson   +23 more
semanticscholar   +1 more source

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source