Results 81 to 90 of about 60,261 (261)

Peptide‐Incorporated Biomaterials Promote Regeneration of Peripheral Nerve Injuries

Advanced Science, EarlyView.
Peptide‐incorporated biomaterials provide precise, tunable biological cues that mimic functional protein domains to regulate behaviors of neurons, Schwann cells, immune cells, and endothelial cells, thereby enhancing axon elongation, Schwann cell support, inflammatory microenvironment modulation, and vascularization, offering a promising alternative to
Zhiwei Zhao, Jianfeng Liu, Jincheng Li, Di Li, Jianxun Ding, Bin Liu   +5 more
wiley   +1 more source

ResearchConnect: An AI‐Powered Platform for Interdisciplinary Research Team Formation and Ideation Development

Advanced Intelligent Systems, EarlyView.
ResearchConnect is an AI‐powered platform that automates researcher profiling, interdisciplinary team formation, and early‐stage research ideation. By extracting keywords from papers and web sources, it quickly clusters researchers into coherent teams and generates collaborative ideas using large language models. Validation on NSF‐funded projects shows
Akshay Vilas Jadhav, Milad Masrouri, Zhao Qin   +2 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Case report: Cilioretinal artery occlusion combined with central retinal vein occlusion as the initial presentation of pulmonary arterial hypertension

Frontiers in Medicine
BackgroundPulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to systemic venous hypertension and potential right heart failure. These elevated pressures can extend to ocular veins,
Yane Gao, Yane Gao, Xiaofeng Xie, Jiao Li, Qingshuai Mu, Xingrong Wang, Xingrong Wang, Shuya Wang   +7 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Ocular hypertension. [PDF]

BMJ, 1978
openaire   +3 more sources

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

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Rational use of the fixed combination of dorzolamide – timolol in the management of raised intraocular pressure and glaucoma

Clinical Ophthalmology, 2008
Jason Yeh1, Daniel Kravitz2, Brian Francis11Doheny Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; 2Tulane University, School of Medicine, New Orleans, LA, USAAbstract: Glaucoma is a multifactorial optic ...
Jason Yeh, Daniel Kravitz, Brian Francis
doaj  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source