Publications by authors named "J M Rosenfeld"
Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.
Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.
Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two , heterozygous variants (NM_004655.4:c.
View Article and Find Full Text PDFPurpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
Article Synopsis
- - The study evaluated the efficacy of telehealth in conducting physical examinations (PE) for individuals with undiagnosed and rare disorders, comparing virtual assessments to in-person examinations.
- - Results showed high agreement in general appearance and craniofacial features between telehealth and in-person evaluations, with varying levels of agreement for neurological examination components.
- - Participants reported satisfaction with the telehealth experience, indicating that telehealth is a viable alternative for conducting physical examinations in cases of undiagnosed diseases.
Liquid marbles (LMs) are microliter-scale droplets coated with hydrophobic solid particles. The particle size and hydrophobicity of the surface coating determine their properties, such as transparency, expandability, and resistance to evaporation and coalescence, one or more of which can be critical to their application as microreactors. This study reports the use of a mixture of two different hydrophobic powders for fabrication of LMs for colorimetric assays: trichloro(1,1,2,2-perfluorooctyl) silane-linked silica gel (modified silica gel (MSG), particle size: 40-75 μm) and hexamethyldisilazane-linked fumed silica (modified fumed silica (MFS), average aggregate length: 200-300 nm).
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