Results 181 to 190 of about 339,743 (245)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Development and Validation of a Computational Histology Artificial Intelligence-Powered Biomarker in Metastatic Hormone-Sensitive Prostate Cancer on Randomized Phase III Trials. [PDF]

JCO Precis Oncol
Sweeney CJ, Krishna V, Krishna V, Neema A, Tarsode A, Subhash VV, Horvath LG, Kench JG, Stockler MR, Yip S, Thomas H, Swami U, Zhang H, Sonawane S, Abuzeid WM, Nimgaonkar V, Tiu E, Watson D, Kiedrowski L, Royce TJ, Yang DD, Tran PT, Ryan CJ, Nguyen PL, Morgans AK, Joshi A, Agarwal N, Davis ID.   +27 more
europepmc   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Editorial

Revista Facultad de Ciencias Económicas, 2004
Revista Facultad de Ciencias Económicas: Investigación y Reflexión
doaj  

An automated daily QA strategy for dosimetry and imaging guidance check of a novel PET/CT ring gantry linac. [PDF]

J Appl Clin Med Phys
Ghimire S, Park YK, Gibbard G, Tan J, Banks TI, Shen C, Prasad R, Zhuang T, Godley A, Jiang SB, Cai B.   +10 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Review: Diálogos con Raquel. Praxis pedagógicas y reflexión de saberes para el desarrollo educativo en la diversidad cultural de María Jesús Vitón

Íconos, 2014
Eulalia Flor Recalde
doaj   +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

Dosimetric Feasibility of Dose-Painting Radiation Therapy for Targeting Hypoxia in Prostate Cancer on a Novel Ring Gantry Radiation Therapy System. [PDF]

Adv Radiat Oncol
Perennec T, Al Feghali KA, de Jong D, Oderinde OM, Gibbard G, Dore M, Delpon G, Alexandra M, Seroux Y, Ferrer L, Hatt M, Rousseau C, Supiot S.   +12 more
europepmc   +1 more source