Results 121 to 130 of about 95,766 (300)

gnSPADE: Incorporating Gene Network Structures Enhances Reference‐Free Deconvolution in Spatial Transcriptomics

Advanced Intelligent Systems, EarlyView.
gnSPADE integrates gene‐network structures into a probabilistic topic modeling framework to achieve reference‐free cell‐type deconvolution in spatial transcriptomics. By embedding gene connectivity within the generative process, gnSPADE enhances biological interpretability and accuracy across simulated and real datasets, revealing spatial organization ...
Aoqi Xie, Yuehua Cui
wiley   +1 more source

White matter hyperintensity tissue property spatial variations as a function of cognitive status in Parkinson’s disease

NeuroImage
Background and purpose: The pathological relationship between white matter hyperintensities (WMH) and cognitive impairment in Parkinson's disease (PD) remains unclear due to their variable locations, heterogeneity, and limited assessment of underlying ...
Mariyemuguli Reheman, Sagar Buch, Naying He, Pei Huang, Qiurong Yu, Xinhui Wang, Yu Liu, Youmin Zhang, Zhijia Jin, Yan Li, Peng Liu, Shengdi Chen, E. Mark Haacke, Fuhua Yan   +13 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Detection of Alzheimer’s Disease Using Hybrid Meta-ROI of MRI Structural Images

Diagnostics
Background: The averaged cortical thickness of meta-ROI is currently being used for the diagnosis and prognosis of Alzheimer’s disease (AD) using structural MRI brain images.
Xiaoming Zheng, on behalf of the Alzheimer’s Disease Neuroimaging Initiative   +1 more
doaj   +1 more source

Comparison of volume of the forebrain, subarachnoid space and lateral ventricles between dogs with idiopathic epilepsy and controls using a stereological approach: Cavalieri's principle. [PDF]

Canine Med Genet, 2021
Watson F, Coppi AA, Volk HA, Packer RMA, Tauro A, Rusbridge C.   +5 more
europepmc   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Isolated Lateral Ventricle

Internal Medicine, 2016
Sumer N, Shikhare, Geoiphy G, Pulickal
openaire   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Distribution of Gadolinium-based Contrast Agent after Leaking into the Cerebrospinal Fluid: Comparison between the Cerebral Cisterns and the Lateral Ventricles. [PDF]

Magn Reson Med Sci, 2021
Ohashi T, Naganawa S, Iwata S, Kuno K.
europepmc   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source