Results 201 to 210 of about 367,278 (369)
Chronic Diseases and Translational Medicine, EarlyView.ABSTRACT Background The increasing incidence of inflammatory bowel disease (IBD) presents significant medical and societal challenges. A well‐designed IBD database is crucial for both epidemiological studies and clinical management. However, inconsistencies between regional databases hinder cross‐institutional and international research, especially ...
Jingshuang Yan +12 more
wiley +1 more source
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022 Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye +31 more
wiley +1 more source
A new family showing dysplasia spondyloepiphisaria tarda [PDF]
, 1966 H. Sieweke
openalex +1 more source
Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly
Cytoskeleton, EarlyView.ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley +1 more source
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Human Mutation, Volume 43, Issue 12, Page 1979-1993, December 2022., 2022 Abstract Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data from three parent‐child sequenced cohorts including the Simons Simplex Collection (SSC), Simons
Jeffrey K. Ng +16 more
wiley +1 more source
Cytogenetic Abnormalities in Carcinoma-in-situ and Dysplasias of the Uterine Cervix [PDF]
, 1965 Michael M. Boddington +2 more
openalex +1 more source
Making colonoscopy‐based screening more efficient: A “gateopener” approach
International Journal of Cancer, Volume 152, Issue 5, Page 952-961, 1 March 2023., 2023 What's new? Although colonoscopy is a widely used screening tool for colorectal cancer (CRC), it is relatively inefficient, as most of the screened subjects would never develop CRC even without screening. In the present study, use of a low‐threshold fecal immunochemical test (“gateopener” FIT) was investigated as a means of streamlining screening ...
Thomas Heisser +4 more
wiley +1 more source
Salvage Trans‐Sylvian Peri‐Insular Hemispherotomy After Embolic Hemispherectomy
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Hemispherectomy and hemispherotomy represent well‐established treatments for drug‐resistant hemispheric epilepsy. An alternative endovascular procedure has been explored for cases with challenging surgical anatomy, which seeks to achieve the clinical effect of hemispherectomy via embolization of the major cerebral arteries and ...
Michael E. Baumgartner +4 more
wiley +1 more source
Marked Hypoplasia of the Distal Phalanges in Ellis–Van Creveld Syndrome
Journal of the Belgian Society of Radiology, 2018 Stijn Marcelis +2 more
doaj +1 more source