Results 191 to 200 of about 517,834 (299)

Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases. [PDF]

Mol Neurobiol
Wakil SM, Morisaki K, Shen PH, Sucich DG, Schwandt M, Hejtmancik JF, Marietta C, Yuan Q, Diazgranados N, Hodgkinson CA, Goldman D.   +10 more
europepmc   +1 more source

Long‐Term Follow‐Up of Chemotherapy‐Associated Biological Aging in Women With Early Breast Cancer

Aging and Cancer, EarlyView.
Women threated with adjuvant chemotherapy for early breast cancer have sustained long‐term increase in p16INK4a,, a robust marker of cell senescence, suggesting a chemotherapy‐associated age acceleration. p16INK4a as well as other biomarkers may identify patients at greatest risk for senescence‐related diseases of aging.
Hyman B. Muss, Alexis C. Wardell, Allison M. Deal, Kirsten A. Nyrop, Allison Ross, Yara G. Abdou, Jeffrey D. Aldrich, Lisa A. Cary, E. Claire Dees, Katherine E. Reeder‐Hayes, Emily M. Ray, Natalia Mitin, Denis Tsygankov   +12 more
wiley   +1 more source

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies. [PDF]

PLoS One
Ren S, Gu W, Liu T, Yan J, Dong H, Niu C, Guo L, Guo H.   +7 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study. [PDF]

Genet Med Open
McCoy J, Pynaker C, Lewis S, Amor DJ, Norris F, Gugasyan L, McGillivray G, Fawcett S, Regan M, Said JM, Begg L, Frawley N, Yuen N, Wapner R, Levy B, Walker SP, Halliday J, Hui L.   +17 more
europepmc   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies. [PDF]

J Cardiovasc Dev Dis
Caputo V, Visconti VV, Marchionni E, Ferradini V, Balsano C, De Vico P, Calò L, Mango R, Novelli G, Sangiuolo F.   +9 more
europepmc   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield. [PDF]

Hum Mutat
Bonamici L, Artuso L, Marino M, Toss A, Sidoti D, Barbieri E, Venturelli M, Marchi I, Pescucci C, Manfredini R, Papi L, Dominici M, Cortesi L, Tenedini E, Tagliafico E.   +14 more
europepmc   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source