Results 61 to 70 of about 89,450 (348)

Requirement for DNA Ligase IV during Embryonic Neuronal Development [PDF]

, 2011
The embryonic ventricular and subventricular zones (VZ/SVZ) contain the neuronal stem and progenitor cells and undergo rapid proliferation. The intermediate zone (IZ) contains nonreplicating, differentiated cells.
Carr, Antony M, Gatz, Susanne A, Gruber, Ralph, Hoffmann, Eva, Jeggo, Penny A, Ju, Limei, Liu, Cong, Wang, Zhao-Qi   +7 more
core   +1 more source

Clinical presentation and management of congenital ptosis

Clinical Ophthalmology, 2017
Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular
M. Marenco, Ilaria Macchi, Iacopo Macchi, Emilio Galassi, M. Massaro‐Giordano, A. Lambiase   +5 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Orbital apex syndrome associated with intraorbital metastasis of lung cancer

Respirology Case Reports, 2022
Key message In lung cancer patients, brain metastasis is often suspected when neurological symptoms appear; however, if ptosis, ocular motility disorder or optic nerve disorder is observed, it is important to identify and treat the orbital apex syndrome.
Takashi Ookuma, Ryota Kikuchi, Hiroyuki Takoi, Kazutoshi Toriyama, Shinji Abe   +4 more
doaj   +1 more source

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome

Frontiers in Pediatrics, 2021
Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease.Methods: The clinical manifestations, process of diagnosis and treatment, and ...
Junxian Fu, Ting Wang, Zhuo Fu, Tianxia Li, Xiaomeng Zhang, Jingjing Zhao, Guanglu Yang   +6 more
doaj   +1 more source

Enhanced Tissue Integration During Cartilage RepairIn VitroCan Be Achieved by Inhibiting Chondrocyte Death at the Wound Edge [PDF]

, 2009
Objective: Experimental wounding of articular cartilage results in cell death at the lesion edge. The objective of this study was to investigate whether inhibition of this cell death results in enhanced integrative cartilage repair.
Archer, Charles W., Burdon, Drew, Duance, Victor C., Gilbert, Sophie J., Gonzalez, Lee G., Khan, Ilyas M., Singhrao, Simarjit Kaur, Thomson, Brian M.   +7 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Comportamiento de las ptosis palpebral en el servicio de oculoplastia: Año 2001 Behavior of palpebral ptosis in the oculoplasty service: Year 2001

Revista Cubana de Oftalmología, 2002
Se estudiaron 93 pacientes que acudieron a consulta en el año 2001 y se les realizó examen oftalmológico completo y específico de la ptosis. El 40,86 % se encontraba entre los 15 años o menos.
Marta Herrera Soto, Carlos González Rodríguez, Nereyda Martínez Suárez, Carmen Padilla González   +3 more
doaj  

Progressively worsening ptosis in a woman: A case report

Clinical Case Reports
Key Clinical Message Filler injections into the upper eyelid may cause levator aponeurosis fibrosis and ptosis. This risk must be considered. When ptosis appears, treatment might be difficult.
Hongqing Zhao, Yuan Ren, Zhanhua Yang, Yuanyuan Wang, Junbo Zhang   +4 more
doaj   +1 more source