Results 41 to 50 of about 19,908 (210)

Case report: Primary intraosseous neurofibroma of maxilla

Journal of Dr. NTR University of Health Sciences, 2020
The present article is a case report of solitary neurofibroma of oral cavity in a 50-year-old male patient. Patient reported with chief complaint of swelling in relation to upper front teeth region since 2 months.
Y Raghavendra Reddy, M Rajinikanth, B Radhika, C N V Akhila   +3 more
doaj   +1 more source

A Collaborative Model for Accelerating the Discovery and Translation of Cancer Therapies [PDF]

, 2017
Preclinical studies using genetically engineered mouse models (GEMM) have the potential to expedite the development of effective new therapies; however, they are not routinely integrated into drug development pipelines. GEMMs may be particularly valuable
Braun, Benjamin S., Cichowski, Karen, Clapp, D. Wade, Cripe, Timothy P., De Raedt, Thomas, Epstein, Inbal, Huang, Tannie Q., Lauchle, Jennifer O., Lee, Hyerim, Maertens, Ophélia, McCurrach, Mila E., Ratner, Nancy, Shannon, Kevin, Wu, Jianqiang   +13 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Unusual Case of a Proptosed Eye: Isolated Right Maxillary Neurofibroma

Case Reports in Pathology, 2016
Neurofibroma is a slow growing benign tumour of the peripheral nerve sheath which is frequently associated with neurofibromatosis type 1 (Prakash et al., 2014).
Darren Yap, Hannah Fox, Julia Addams-Williams   +2 more
doaj   +1 more source

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

Primary Bladder Neurofibroma: A Rare Case with Clinical Implications and Diagnostic Challenges [PDF]

Journal of Clinical and Diagnostic Research, 2015
Neurofibroma of the genito-urinary tract is rare. Urinary bladder is the commonest organ involved in cases of urinary tract involvement. Patients present early in life and there is male preponderance.
Srikanth Umakanthan, Ramadas Naik, Maryann Margaret Bukelo, Sharada Rai, Laxman Prabhu   +4 more
doaj   +1 more source

Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report [PDF]

, 2016
Elephantiasis neuromatosa (EN) can arise from a plexiform neurofibroma of the superficial and deep nerves developing from a hyperproliferation of the perineural connective tissue infiltrating adjacent fat and muscles.
Dealis, Cristina, Loschi, Pietro, Mandel, Victor Desmond, Martorana, Davide, Pecchi, Annarita, Pellacani, Giovanni, Pollio, Annamaria, Ponti, Giovanni, Seidenari, Stefania, Tomasi, Aldo   +9 more
core   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Benign Cutaneous Peripheral Nerve Sheath Tumor with Hybrid Features: Report of Two Cases with Schwannoma/Perineurioma and Schwannoma/Neurofibroma Components

Dermatopathology, 2017
Hybrid benign peripheral nerve sheath tumors are rare tumors exhibiting areas of more than one neural neoplasm such as schwannoma/neurofibroma, neurofibroma/perineurioma, or schwannoma/perineurioma.
Shirien Shanouda, Gürkan Kaya
doaj   +1 more source

Solitary Neurofibroma Of The Spermatic Cord: A Case Report. [PDF]

, 2015
We report the ultrasound, computerized tomography, positron emission tomography and magnetic resonance imaging findings of a 38-year-old man with a biopsy proven solitary neurofibroma of the spermatic cord.
Boto, J., Boudabbous, S., Gourmaud, J., Lobrinus, J.A., Terraz, S.   +4 more
core   +2 more sources