Results 81 to 90 of about 409,247 (302)
Early events in the evolution of the Silene latifolia Y chromosome: Male specialization and recombination arrest [PDF]
, 2007 Understanding the origin and evolution of sex chromosomes requires studying recently evolved X-Y chromosome systems such as those in some flowering plants.
Georgiev, Sevdalin +8 more
core +1 more source
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 +8 more
wiley +1 more source
Reverse painting highlights the origin of chromosome aberrations
, 2004 Reverse chromosome painting, as the opposite of forward chromosome painting, means that an abnormal chromosome of interest is recovered by flow sorting or by chromosome microdissection, amplified and labelled by DOP-PCR and hybridized onto normal ...
Blennow, E
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
Case Reports in Pediatrics, 2016 Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal
Gioconda Manassero-Morales +2 more
doaj +1 more source
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 +16 more
wiley +1 more source
Determination of Fetal Abnormalities in Pregnancies Leading to Legal Abortion in Golestan Province (2018-19) [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 Background and Objective: In recent years, studies have been conducted to determine the prevalence rate of congenital abnormalities in different regions of Iran, most of which were conducted on live births.
Atena Mehrara +2 more
doaj
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 +5 more
wiley +1 more source
Genetics Aspects of Male Infertility
مجله دانشکده پزشکی اصفهان, 2013 Infertility is one of the most common reproductive disorders occurring in approximately 15% of the couples. Male factor accounts for about half of these cases.
Arezoo Karamzade +2 more
doaj
Chromosome Abnormalities and Viability of Vitrified Eight-Cell Mouse Embryos at Presence of Two Different Cryoprotectants at Different Storage Durations [PDF]
Cell Journal, 2013 Objective: Experiments were conducted to find the differences between post-thaw viability and chromosome aberrations in eight-cell mouse embryos at presence of dimethyl sulfoxide (DMSO) and 1, 2-propanediol (PROH) as croprotectants in different storage ...
Zahra Mansouri +4 more
doaj