Results 141 to 150 of about 638,215 (311)
Frontiers in GeneticsChromosomal inversion is one of the common types of chromosomal structural rearrangements. For couples with chromosomal inversions, the appropriate recommendations for preimplantation genetic testing (PGT) remain a subject of ongoing debate.
Yutong Li +27 more
doaj +1 more source
Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
Immunohistochemistry analysis and chromosomal translocation abnormalities.
, 2018 Immunohistochemistry analysis and chromosomal translocation abnormalities.
Takuto Miyagishima (5088950) +9 more
core +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Chromosomal distribution of different marker types.
, 2016 Chromosomal distribution of different marker types.
Deying Zeng (3112122) +9 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Testing of a canalization model of adaptive chromosomal evolution on a new theriological material
Фактори експериментальної еволюції організмів, 2013 Aims. The attempt to test a canalization model of adaptive chromosomal evolution which implies that for each adaptive zone there is an optimum karyotype by that can be evolved chromosomal rearrangements has been made on a new theriological material ...
M. I. Baskevich
doaj
JMIR Bioinformatics and BiotechnologyBackgroundChromosomal abnormalities are genetic disorders caused by chromosome errors, leading to developmental delays, birth defects, and miscarriages.
Mega Obukohwo Sr Oyovwi +3 more
doaj +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source