Results 121 to 130 of about 47,394 (257)

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†. [PDF]

Biol Reprod
Duke M, Blengini CS, Maddocks S, Aboelenain M, Prorock-Rogers C, Schindler K.   +5 more
europepmc   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing. [PDF]

Cancers (Basel)
Nie Q, Schilter KF, Larson A, Udhane V, Keo V, Khurana S, Adams JN, Acevedo A, Sanchez D, Peltier T, Mitchell K, Robinson D, Hernandez KM, Douville C, Bettegowda C, Reddi HV.   +15 more
europepmc   +1 more source

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

Reproductive outcomes of mosaic embryo transfers - rethinking the clinical relevance of contemporary mosaicism reporting in preimplantation genetic testing for aneuploidy. [PDF]

Curr Opin Obstet Gynecol
Ottolini CS, Caroselli S, Capalbo A.
europepmc   +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

Aneuploidy confers environmentally robust higher evolvability than euploidy in a synthetic allotetraploid wheat. [PDF]

Sci Adv
Wang H, Wang R, Chen B, Aslam T, Lian T, Xu C, Liu B, Lv R.   +7 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

Clinical Use of Combined First-Trimester Screening Test for Aneuploidy in A Low-Income Setting: Retrospective Study. [PDF]

Health Sci Rep
Diress T, Wondafrash M, Gudu W, Abdosh AA, Sium AF.   +4 more
europepmc   +1 more source