Results 41 to 50 of about 17,833 (262)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Chromosomal aberrations in couples with pregnancy loss: A retrospective study

Journal of Human Reproductive Sciences, 2018
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Vandana Wankhede, Moreshwar R Shende, Aaditya M Tarnekar   +5 more
doaj   +1 more source

Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss

Journal of Human Reproductive Sciences, 2020
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester ...
Ghada Mohamed Elhady, Soha Kholeif, Nahla Nazmy   +2 more
doaj   +1 more source

Non-invasive prenatal screening tests – update 2022

Journal of Laboratory Medicine, 2022
Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21.
Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus   +5 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Sex chromosome aberrations in schizophrenia.

Indian journal of psychiatry, 2011
Research on sex chromosome aberrations has made considerable progress. There are evidences that possession of an extra X chromosome may affect the mental health of an individual. All the male schizophrenia patients registered during the period of study, who were not under treatment, constituted the patient sample.
S B, Chatterjee, S K, Basu
openaire   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Genetic damages in radiation workers of radiology centers in Bushehr port

Iranian South Medical Journal, 2004
Unstable genetic aberrations might provide a good marker for assessing genetic damage in populations exposed to low levels of ionizing radiation.The frequency of these aberrations was estimated in peripheral lymphocytes from hospital workers in Bushehr ...
Gholamreza Khamisipour, Abdolmajid Tamjidi, Akram Tamjidi, Iraj Nabipour   +3 more
doaj  

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source