Results 201 to 210 of about 9,860,660 (392)

Clinicopathological and genetic analysis of orbital solitary fibrous tumors

BMC Ophthalmology
Purpose To investigate the clinicopathological and genetic characteristics of patients with orbital solitary fibrous tumor (SFT) for clinical reference. Methods This single-center retrospective case-series study assessed clinical manifestations, imaging ...
Qing Wang, Zonghan Nan, Xun Liu, Limin Zhu, Emmanuel Eric Pazo, Tianming Jian, Liang Zhao, Jinzhi Zhao, Tingting Lin   +8 more
doaj   +1 more source

RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy

, 2009
Xue Cai, Shannon M. Conley, Muna I. Naash   +2 more
openalex   +1 more source

Design, Control, and Clinical Applications of Magnetic Actuation Systems: Challenges and Opportunities

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
This review aims to provide a broad understanding for interdisciplinary researchers in engineering and clinical applications. It addresses the development and control of magnetic actuation systems (MASs) in clinical surgeries and their revolutionary effects in multiple clinical applications.
Yingxin Huo, Lidong Yang, Tiantian Xu, Dong Sun   +3 more
wiley   +1 more source

A Review on Recent Trends of Bioinspired Soft Robotics: Actuators, Control Methods, Materials Selection, Sensors, Challenges, and Future Prospects

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
This article reviews the current state of bioinspired soft robotics. The article discusses soft actuators, soft sensors, materials selection, and control methods used in bioinspired soft robotics. It also highlights the challenges and future prospects of this field.
Abhirup Sarker, Tamzid Ul Islam, Md. Robiul Islam   +2 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

miR ‐181a/b downregulation: a mutation‐independent therapeutic approach for inherited retinal diseases [PDF]

, 2022
Sabrina Carrella, Martina Di Guida, Simona Brillante, Davide Piccolo, Ludovica Ciampi, Irene Guadagnino, Jorge García‐Piqueras, Mariateresa Pizzo, Elena Marrocco, Marta Molinari, Georgios Petrogiannakis, Sara Barbato, Yulia Ezhova, Alberto Auricchio, Brunella Franco, Elvira De Leonibus, Enrico Maria Surace, Alessia Indrieri, Sandro Banfi   +18 more
openalex   +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

Retinal optical coherence tomography angiography imaging in population studies for study of microvascular dysfunction in Alzheimer's disease and related dementias [PDF]

Amir H. Kashani, Tos T. J. M. Berendschot, Sophie Bonnin, Lucia Sobrin, Danilo Andrade De Jesus, Luisa Sánchez Brea, Ana Collazo Martinez, Rajiv Raman, Victor A. de Vries, Haifan Huang, Tom MacGillivray, Wishal D. Ramdas, Frank C. T. van der Heide, for the SIGNATR Study, Tom MacGillivray, Wishal D. Ramdas, Frank C. T. van der Heide   +16 more
openalex   +1 more source

Insights into organelle forming RNAs: Diversity, functions and future perspectives

Animal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source