Results 171 to 180 of about 16,484,276 (296)

Machine Learning‐Augmented Loop‐Mediated Isothermal Amplification‐Enabled Point‐of‐Care for Mpox‐Specific Detection

Advanced Intelligent Systems, EarlyView.
A low‐cost, portable point‐of‐care platform for rapid Mpox detection using loop‐mediated isothermal amplification is reported. The device integrates fluorescence readout and mobile monitoring. A machine‐learning model analyzes temperature data and correlates thermal changes with DNA concentration, enabling sensitive and reliable molecular diagnosis in ...
Nazente Atceken, Ahmed Choukri Abdullah, Olgac Ozarslan, Ziya Yıldız, Savas Tasoglu   +4 more
wiley   +1 more source

Type Ⅱ Alexander's disease: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
YUAN Yu-qing, ZHAN Qing-qing, XIE Liang
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review. [PDF]

J Clin Med
Smółka KA, Smółka L, Guz W, Chaber E, Perenc L.   +4 more
europepmc   +1 more source

Washington University Medical Alumni Quarterly, July 1944 [PDF]

, 1944

core   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

A General Group Testing Strategy for Discovering Chemical Cooperativity

Angewandte Chemie, EarlyView.
A combinatorial design theory‐based group testing strategy coupled with luminescence screening to uncover cooperative interactions in a large combinatorial space. Iterative deconvolution identifies reactive molecular pairs and enables the discovery of trifluoromethylthiolation (SCF3) reagents.
Philipp M. Pflüger, Felix Katzenburg, Frederik Sandfort, Michael Teders, Adrián Gómez‐Suárez, Eric A. Standley, Matthew N. Hopkinson, Constantin G. Daniliuc, Andreas Heuer, Frank Glorius   +9 more
wiley   +2 more sources

Bilateral vestibulopathy in Alexander disease type II- a case report. [PDF]

Eur Arch Otorhinolaryngol
Hofmann JB, Gautschi M, Vossenkaul A, Blanquet M, Bremova-Ertl T.   +4 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Erratum: Genotype-Phenotype Association for 14 <i>GFAP</i> Variants in Alexander Disease. [PDF]

Neurol Genet
Messing A, Waldman AT, Bolt DM.
europepmc   +1 more source