Results 141 to 150 of about 63,250 (285)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Arianna Carta, Lorenza Della Valle, Giuseppe Rizzo, Ilenia Mappa, Giuseppe Maruotti, Maria Elena Flacco, Lamberto Manzoli, Gennaro Cormio, Asma Khalil, Alberto Galindo, Francesco D'Antonio   +10 more
wiley   +1 more source

Interlaboratory performance testing on EPIC v2.0 CNS tumor profiling demonstrates high reproducibility of tumor classification but reveals the need for harmonized copy number variation reporting

Brain Pathology, EarlyView.
Using the Infinium MethylationEPIC v2.0 array and Heidelberg Brain Tumor Classifier v12.8, 24 international laboratories achieved highly reproducible CNS tumor classification (97.9% correct; median β‐correlation r = 0.99), while copy number variation interpretation showed substantial interlaboratory variability, highlighting the need for harmonized CNV
Katrin Mauch‐Mücke, Christin Siewert, Lora Dimitrova, Sandra Pohl, Brendan Osberg, Annika K. Wefers, Julia Lorenz, Tanja Rothhammer‐Hampl, Till Acker, Alonso Barrantes‐Freer, Jean Boutonnat, Bérengère Dadone‐Montaudié, Claire Delbridge, Wolfgang Dietmaier, Sebastian Dintner, Hildegard Dohmen, Matthias Dottermusch, Daniel Erny, Katrin B. M. Frauenknecht, Tobias Goschzik, Patrick N. Harter, Daniela Hirsch, Yanghao Hou, Theo F. J. Kraus, Maggie Lee, Friederike Liesche‐Starnecker, Anne Mc Leer, Linea Melchior, Michael Mittelbronn, Wolf C. Müller, Shalima S. Nair, Julia E. Neumann, Pitt Niehusmann, Nicole Pfarr, Torsten Pietsch, Marco Prinz, Markus Rechsteiner, Regina Reimann, Laveniya Satgunaseelan, Veronica Skarpeteig, Anne J. Skjulsvik, Karl Sotlar, Isabelle Vanden Bempt, Erik Vassella, Katharina J. Weber, Gabriel Wasinger, Andreas Waha, Karen Zwaenepoel, Felix Sahm, Markus J. Riemenschneider, David Capper   +50 more
wiley   +1 more source

Deficiency in POLE Exonuclease Causes Synthetic Lethality in Highly Aneuploid Cancer Cells. [PDF]

Cancer Res
Kim EJ, Jin DX, Chibly AM, Dorighi K, Sivakumar S, Kamm J, Juszkiewicz S, Cabrera K, Reja R, Wang Y, Nakagawa R, Shi M, Liang Y, Dey A, Sokol ES, Gendreau S, He M.   +16 more
europepmc   +1 more source

Immunological Heterogeneity in Gastric Cancer: Context‐Dependent Role of CD8+ T Cells

Cancer Science, EarlyView.
CD8+ T cell infiltration in gastric cancer shows subtype‐dependent prognostic and predictive significance across TCGA molecular subtypes. Its clinical value is context‐dependent and requires integrated immune profiling to guide modern chemoimmunotherapy strategies.
Xiaofei Sun, Zihao Yang, Hongtao Qu, Jinhui Wu   +3 more
wiley   +1 more source

Decellularised Corneal Stromal Lamina With or Without Autologous Adipose‐Derived Adult Stem Cells for Advanced Keratoconus: 1‐Year Results of a Phase I/IIa Clinical Trial

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To report the 1‐year clinical outcomes of decellularised human corneal stromal lamina implantation, with or without autologous adipose‐derived adult stem cells (ADASCs), for advanced keratoconus in a European cohort. Methods In this prospective, randomised Phase I/IIa trial, 10 eyes of 10 patients were allocated to decellularised ...
Hao Zhang, Jorge L. Alió del Barrio, Alejandra E. Rodriguez, Rafael I. Barraquer, Francisco Arnalich‐Montiel, David Mingo‐Botín, María Eugenia Fernández Santos, Jorge L. Alió   +7 more
wiley   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

The minimum requirements for prenatal "confirmatory" diagnosis of fetal aneuploidy. [PDF]

Pregnancy (Hoboken)
Ferreira JC, Levy B, Benn P.
europepmc   +1 more source

Cystic Fibrosis and Colorectal Cancer Risk: Reprogramming of the Intestinal Epithelial Niche and Cell‐State Plasticity in the CFTR Modulator Era

Cell Proliferation, EarlyView.
In cystic fibrosis disorder, CFTR dysfunction drives multilayered intestinal niche disruption, including dysbiosis, inflammation, hypoxia, metabolic stress and genotoxic injury, promoting cell‐state plasticity and a pre‐neoplastic ecosystem. CFTR modulators and environmental factors may partially reshape these processes, highlighting opportunities for ...
Bala Umashankar, Ines Pankonien, Margarida Amaral, Chee Y. Ooi, Thierry Jardé, Shafagh A. Waters   +5 more
wiley   +1 more source

Aneuploidy and the Older Gravida: Which Risk to Quote

, 1978
letter
Wyatt, Philip R.
core