A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour [PDF]
, 2007 Rachel Linger +6 more
openalex +1 more source
The History and geography of the Y chromosome SNPs in Europe: an update [PDF]
, 2010 The knowledge of the evolution of the human genome is strictly dependent on the availability of appropriate genetic markers and their relative coverage of genetic variation which refine the phylogenetic reconstruction.
Francalacci, Paolo +3 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
High Frequency of 45,X/46,XY mosaicism carring a structurally abnormal Y chromosome in patients with Y chromosome microdeletions: a 8-year period retrospective study [PDF]
, 2020 Hongge Li
openalex +1 more source
RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source
Regulation of monoamine oxidase A by the SRY gene on the Y chromosome
, 2009 Jason Wu +4 more
openalex +2 more sources
Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
Nature, 2003 H. Skaletsky +39 more
semanticscholar +1 more source
Multi‐Omics Integration for Advancing Glioma Precision Medicine
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia +4 more
wiley +1 more source