Cerebellar White Matter Abnormalities in Charcot–Marie–Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis [PDF]
, 2021 Sungeun Hwang +9 more
openalex +1 more source
Treatment timing and multidisciplinary approach in Apert syndrome [PDF]
, 2015 Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO +6 more
core +2 more sources
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.We demonstrate the direct‐laser patterning of a gold thin film on polymethyl methacrylate to fabricate a temperature sensor for dentures. The temperature sensor‐embedded smart dentures are evaluated in an oral environment, enabling in‐situ monitoring for elderly healthcare.
Han Ku Nam +7 more
wiley +1 more source
Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease [PDF]
, 2022 John W. McLean +9 more
openalex +1 more source
Identification of novel therapeutic targets in the PI3K/AKT/mTOR pathway in hepatocellular carcinoma using targeted next generation sequencing. [PDF]
, 2014 Understanding genetic aberrations in cancer leads to discovery of new targets for cancer therapies. The genomic landscape of hepatocellular carcinoma (HCC) has not been fully described. Therefore, patients with refractory advanced/metastatic HCC referred
Janku, Filip +4 more
core +3 more sources
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source
Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction
Journal of Dental SciencesBackground/purpose: Tooth development, or odontogenesis, is a complex process in which several molecular pathways play a key role. Recently, microRNAs, a class of approximately 20-nucleotide small RNA molecules that regulate gene expression, have been ...
Agnese Giovannetti +12 more
doaj +1 more source
Evaluation of Canine Transpositions and Related Dental Anomalies in a Turkish Pediatric Population
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022 Objective: To investigate the prevalence and characteristics of canine transpositions and to evaluate associated dental anomalies in a pediatric population.
Esra Oz, Zuhal Kırzıoglu
doaj
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley +1 more source