Results 161 to 170 of about 2,067,464 (306)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

The role of diffusion-weighted MRI in biological image-guided radiation therapy: a roadmap. [PDF]

Phys Med Biol
Deng J, Tadimalla S, Seibert TM, Gach HM, van Houdt PJ, Hormuth Ii DA, Jia X, Zou J, Conlin CC, Karaman M, Xu J, De Vis JB, Wei L, Dornisch AM, Weygand J, Wang YF, Thorwarth D, Zhou XJ, Gore JC, Jiang X, Kim T, Haworth A, Enderling H, Chung C, Yankeelov TE.   +24 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Methodologic Considerations in Whole-Body Diffusion-weighted MRI for Pediatric Sarcoma Staging. [PDF]

Radiol Imaging Cancer
Onohara K, Ichikawa J.
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Hypoglycemic Encephalopathy Caused by Insulinoma With Reversible High Signals in the White Matter on Diffusion-Weighted MRI: A Case Report. [PDF]

Case Rep Radiol
Shiratori T, Osawa I, Watanabe W, Nagawa K, Matsuura K, Kakemoto S, Higashi M, Kozawa E.   +7 more
europepmc   +1 more source

Farnesyltransferase Enables Modular Assembly of Dual‐Functional Nanobody Conjugates for in Vivo Imaging of Inflammation

Angewandte Chemie, EarlyView.
A modular farnesyltransferase‐based chemoenzymatic platform enables fast, site‐specific labeling of nanobodies for PET imaging of inflammation. CD11b‐targeted PET agents selectively image myeloid‐driven inflammation, while CD45‐targeted PET agents provide sensitive whole‐body immune mapping.
Sneha Venkatachalapathy, Yoon Ho Lee, Ali Salehi Farid, Heydar Moravej, Sina Djafari Rouhani, Jennifer E. Rowley, Mohammad Rashidian, Mark D. Distefano   +7 more
wiley   +2 more sources

A phantom mimicking layered biological microenvironments investigated with 7T diffusion weighted MRI. [PDF]

Sci Rep
Łabieniec Ł, Szymański K, Wieteska M, Domański G, Brancewicz M, Lisowski Ł, Lipiński K, Łaźny R, Bogorodzki P.   +8 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Multi-center diffusion-weighted MRI validation for 0.35T MR-Linac. [PDF]

Phys Med
Nejad-Davarani S, Lutsik N, Mittauer K, Bassiri-Gharb N, Weygand J, Armstrong T, Pokharel S, Rana S, Wang H, Gutierrez A, Kasper M, Mellon E.   +11 more
europepmc   +1 more source