Results 101 to 110 of about 43,934 (310)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Current Therapeutic Strategies and Novel Approaches in Osteosarcoma [PDF]

, 2013
Osteosarcoma is the most frequent malignant primary bone tumor and a main cause of cancer-related death in children and adolescents. Although long-term survival in localized osteosarcoma has improved to about 60% during the 1960s and 1970s, long-term ...
Allison, Anderson, Ando, Araki, Avella, Bacci, Bacci, Berrey, Bielack, Breur, Brosjo, Ceelen, Chawla, Coventry, De Kraker, Dominique Heymann, Duffaud, Ebb, Enneking, Enneking, Ferguson, Franzius, Françoise Rédini, Gilchrist, Giritsky, Gobin, Gorlick, Harris, Hornicek, Houghton, Hudson, Kanji Mori, Kilpatrick, Kolb, Kosei Ando, Kotz, Labrinidis, Lee, Lin, Manfrini, Mankin, Marcove, Marcove, Marie-Françoise Heymann, Maronna, Marulanda, Matsunobu, McGary, McMahon, Meyers, Meyers, Mori, Ortiz-Cruz, Paget, Phillips, Rosen, Rosen, Rosenburg, Rougraff, Rubin, Simon, Spira, Sulzbacher, Sulzbacher, Uyttendaele, Verena Stresing, Wan, Ward, Warwick, Whelan, Whelan, Winkler, Wittig, Xu, Zhang   +74 more
core   +2 more sources

Small vesicles, big potential: A review of innovative exosome delivery and molecular mechanisms in preclinical myocardial infarction models

Animal Models and Experimental Medicine, EarlyView.
This narrative review discusses animal models of exosome‐based myocardial infarction treatments. Emerging techniques aim to improve exosome stability, targeting, and bioavailability for MI treatment as drug delivery vehicles and regenerative mediators that promote myocardial regeneration. Abstract Exosomes have emerged as promising therapeutic carriers,
Chayanisa Phutiyothin, Kovit Pattanapanyasat, Sarawut Kumphune   +2 more
wiley   +1 more source

A salvage strategy for heel pad degloving injury

OTA International, 2018
. Case:. A 50-year-old female experienced a crush injury to the foot resulting in open degloving of her heel pad. This study details a surgical strategy to achieve healing and limb salvage. Conclusion:.
William A. Cantrell, BS, Joshua M. Lawrenz, MD, Heather A. Vallier, MD   +2 more
doaj   +1 more source

Limb Salvage for Malignant Bone Tumors in Young Children [PDF]

, 2000
From March 1984 to April 1991, the Orthopaedics Department of the Clínica Universitaria de Navarra treated 47 cases of malignant bone tumors in young children by limb-salvage surgery. Mean follow-up time was 4.4 years.
Cara, J.A. (José Antonio), Cañadell, J.M. (J. M.)   +1 more
core  

Differential chemosensitivity to antifolate drugs between RAS and BRAF melanoma cells. [PDF]

, 2014
BACKGROUND: The importance of the genetic background of cancer cells for the individual susceptibility to cancer treatments is increasingly apparent.
Arozarena, Imanol, Erice, O., Ferguson, J., Goicoechea, I., Margison, G.P., Wellbrock, C.   +5 more
core   +2 more sources

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova, Christina van der Linden, Ningfei Li, Konstantin Butenko, Thea Berger, Garance M. Meyer, Ilkem Aysu Sahin, Lukas L. Goede, Bahne H. Bahners, Barbara Hollunder, Till A. Dembek, Andrew R. Pines, Martin Reich, Jens Volkmann, Vincent J. J. Odekerken, Rob M. A. de Bie, Xin Xu, Zhipei Ling, Chen Yao, Andrea A. Kühn, Surjo R. Soekadar, Kerstin Ritter, Michael T. Barbe, Veerle Visser‐Vandewalle, Michael D. Fox, Jan Niklas Petry‐Schmelzer, Nanditha Rajamani, Andreas Horn   +27 more
wiley   +1 more source

Reconstruction of Nonunion Tibial Fractures in War-Wounded Iraqi Civilians, 2006-2008: Better Late Than Never [PDF]

, 2012
OBJECTIV
Al Ani, A M K, Alras, M S, Baron, E, Daumas, L, Fakri, R M, Hérard, P, Khaddaj, S, Rose, A M C   +7 more
core   +2 more sources

A perspective from the Mesozoic: Evolutionary changes of the mammalian skull and their influence on feeding efficiency and high‐frequency hearing

The Anatomical Record, EarlyView.
Abstract The complex evolutionary history behind modern mammalian chewing performance and hearing function is a result of several changes in the entire skeletomuscular system of the skull and lower jaw. Lately, exciting multifunctional 3D analytical methods and kinematic simulations of feeding functions in both modern and fossil mammals and their ...
Julia A. Schultz
wiley   +1 more source