Results 181 to 190 of about 156,789 (313)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Diagnostic Accuracy of PET/CT and Diffusion-weighted MRI in Detecting Residual Oropharyngeal Carcinoma after Chemoradiotherapy. [PDF]

Radiol Imaging Cancer
Sistonen HJ, Markkola AT, Aro K, Kurdo G, Tapiovaara LK, Loimu V, Atula TS.   +6 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

On the replicability of diffusion weighted MRI-based brain-behavior models. [PDF]

Commun Biol
Kotikalapudi R, Kincses B, Gallitto G, Englert R, Hoffschlag K, Li J, Büchel C, Bingel U, Spisak T.   +8 more
europepmc   +1 more source

Prenatal diffusion-weighted MRI in growth-restricted fetuses: early diffusion changes beyond Doppler findings: a retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Yildirim Baydemir B, Baydemir SK, Fitoz S, Koc A.   +3 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Diffusion-Weighted MRI in Sinonasal Tumors: Diagnostic Insights From a Tertiary Center. [PDF]

Cureus
Mallineni K, Jayasankaran S.
europepmc   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Slowing Down Water: Enhanced and Cation‐responsive MRI Contrast

Angewandte Chemie, EarlyView.
The controlled modification of mesoporous silica nanoparticle side walls with kosmotropic motifs supports an ability to reduce water diffusive mobility and dramatically increase MRI contrast to levels unprecedented for highly kinetically stable Gd‐DOTA configurations (both q = 1 and q = 0).
Connor M. Ellis, James P. Smith, Matthew F. Allen, Ferenc E. Mózes, Stephen Faulkner, Jason J. Davis   +5 more
wiley   +2 more sources

Author Correction: On the replicability of diffusion weighted MRI-based brain-behavior models. [PDF]

Commun Biol
Kotikalapudi R, Kincses B, Gallitto G, Englert R, Hoffschlag K, Li J, Büchel C, Bingel U, Spisak T.   +8 more
europepmc   +1 more source