Results 161 to 170 of about 113,215 (275)

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

Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study

, 2020
Ting Hu, Tian Tian, Zhu Zhang, Jiamin Wang, Rui Hu, Like Xiao, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu   +9 more
openalex   +2 more sources

Chromosome banding analysis and genomic microarrays are both useful but not equivalent methods for genomic complexity risk stratification in chronic lymphocytic leukemia patients

, 2021
Sílvia Ramos‐Campoy, Anna Puiggros, Sı́lvia Beà, Sandrine Bougeon, María José Larráyoz, Dolors Costa, Helen Parker, Gian Matteo Rigolin, Margarita Ortega, María Laura Blanco, Rosa Collado, Rocío Salgado, Tycho Baumann, Eva Gimeno, Carolina Moreno, Francesc Bosch, Xavier Calvo, Marı́a José Calasanz, Antonio Cuneo, Jonathan C. Strefford, Florence Nguyen‐Khac, David Oscier, Claudia Haferlach, Jacqueline Schoumans, Blanca Espinet   +24 more
openalex   +2 more sources

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

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis. [PDF]

Ann Med, 2023
Xia Z, Zhou R, Li Y, Meng L, Huang M, Tan J, Qiao F, Zhu H, Hu P, Zhu Q, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis.

, 2020
Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Xiu-Qiong Huang   +3 more
openalex   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios. [PDF]

Ann Med, 2023
Shi X, Ding H, Li C, Liu L, Yu L, Zhu J, Wu J.   +6 more
europepmc   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Integrating artificial intelligence (AI) into colorectal cancer reporting

The Journal of Pathology, EarlyView.
Abstract Artificial intelligence (AI) and deep learning (DL) are transforming cancer research and clinical care, with histopathology playing a central role in this transformation. In colorectal cancer (CRC), the second leading cause of cancer mortality world‐wide, multimodal and vision‐language models (VLMs) hold particular promise for enhancing the ...
Konstantin Bräutigam, Ann‐Marie Baker, Viktor H Koelzer, Jakob N Kather, Trevor A Graham   +4 more
wiley   +1 more source