Results 41 to 50 of about 5,899 (197)

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

A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum [PDF]

Clinical and Molecular Hepatology, 2016
Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common.
Kyung Han Lee, Sun Hong Yoo, Gi Tark Noh, Won Suk Heo, Byung Seong Ko, Jung Ah Chio, Hyo Jin Cho, Jin Young Choi, Hee Jun Kim, Won Sohn, Sang Jong Park, Young Min Park   +11 more
doaj   +1 more source

The Plexiform Neurofibroma Microenvironment [PDF]

Cancer Microenvironment, 2012
Dynamic interactions between tumorigenic cells and surrounding cells, including immunomodulatory hematopoietic cells, can dictate tumor initiation, progression, and transformation. Hematopoietic-stromal interactions underpin the plexiform neurofibroma, a debilitating tumor arising in individuals afflicted with Neurofibromatosis type 1 (NF1), a common ...
Feng-Chun, Yang, Karl, Staser, D Wade, Clapp   +2 more
openaire   +2 more sources

Neurofibroma plexiforme en mucosa yugal: presentación de un caso clínico [PDF]

, 2004
Presentamos un caso clínico de neurofibroma plexiforme localizado en región geniana, a nivel submucoso. Su interés radica en que, a pesar de ser el tumor de origen neurógeno más frecuente, es una entidad poco habitual y que rara vez se localiza a nivel ...
Fernández-Alba Luengo, Javier, Gómez Oliveira, G., López-Cedrún Cembranos, José Luis, Martín Sastre, Roberto Javier, Patiño Seijas, Beatriz   +4 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

Plexiform Neurofibroma Involving the Lacrimal Gland

Case Reports in Ophthalmology, 2017
Background: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid.
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard   +2 more
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

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Plexiform Neurofibroma of Face: A Challenge for Plastic Surgeons

Journal of the Dow University of Health Sciences, 2009
Plexiform neurofibroma is a benign tumour of peripheral nerves and connective tissue. They developmost often in patients with neurofibromatosis type 1 (NF1) and often grow continuously.
Muhammad Ahmad, Saleem A. Malik
doaj   +4 more sources

Revisiting the NPcis mouse model: A new tool to model plexiform neurofibroma.

PLoS ONE
Neurofibromatosis Type I (NF1) is a rare genetic disorder. NF1 patients frequently develop a benign tumor in peripheral nerve plexuses called plexiform neurofibroma.
Camille Plante, Teddy Mohamad, Dhanushka Hewa Bostanthirige, Michel Renaud, Harsimran Sidhu, Michel ElChoueiry, Jean-Paul Sabo Vatasescu, Mikael Poirier, Sameh Geha, Jean-Philippe Brosseau   +9 more
doaj   +1 more source