Results 11 to 20 of about 922 (157)

Multiple glomus tumor in a patient with neurofibromatosis type 1: a case report and literature review [PDF]

Surgical & Cosmetic Dermatology, 2020
Neurofibromatosis type I (NF1) is an autosomal dominant disease, with an incidence of 1/2,500-3,000 births and a prevalence of approximately 1/4,000-5,000 individuals. Genetic mutations in the NF1 gene cause it, affecting neural and skin tissues.
Marcia Ferraz Nogueira, Jayme de Oliveira, Gabriela Machado Dias Junqueira, Ana Julia Marçal Pereira Dias   +3 more
doaj   +1 more source

An Unexplored Diversity for Adaptation of Germination to High Temperatures in <i>Brassica</i> Species. [PDF]

Evol Appl
ABSTRACT Elevated temperatures inhibit the germination of a concerning number of crop species. One strategy to mitigate the impact of warming temperatures is to identify and introgress adaptive genes into elite germplasm. Diversity must be sought in wild populations, coupled with an understanding of the complex pattern of adaptation across a broad ...
Tiret M, Wagner MH, Gay L, Chenel E, Dupont A, Falentin C, Maillet L, Gavory F, Labadie K, Ducournau S, Chèvre AM.   +10 more
europepmc   +2 more sources

Lung parenchima changes in neurofibromatosis type 1 [PDF]

Vojnosanitetski Pregled, 2016
Introduction. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological ...
Ilić Aleksandra, Raljević Snežana, Adžić Tatjana, Škodrić-Trifunović Vesna, Stanimirović Jelena   +4 more
doaj   +1 more source

Neurofibroma of the appendix and multiple gastrointestinal stromal tumors of small bowel in neurofibromatosis type 1 patient [PDF]

Korean Journal of Clinical Oncology, 2014
Neurofibromatosis type 1 (NF-1) is an autosomal dominant hereditary disease with association of tumorous condition of body. Although the pathogenesis of tumorous condition with NF-1 is unclear, there were several reports for gastrointestinal tumors ...
Gui-Ae Jeong
doaj   +1 more source

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

Orphanet Journal of Rare Diseases, 2021
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot, P. Wolkenstein   +5 more
doaj   +1 more source

The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]

مجله دانشگاه علوم پزشکی گرگان, 2023
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj  

Report of an Uncommon Case of Huge Neurofibroma in the Buccal Mucosa

Journal of Dental School, 2021
Objectives Neurofibroma (solitary or multiple) is a benign neurogenic jaw tumor with peripheral nerve origin. It is commonly found in the skin and the head and neck region but its occurrence in the oral cavity is rare.
Fatemeh Mashhadiabbas, Roohalla Safarpour, Maryam Mohammadalizadeh Chafjiri   +2 more
doaj   +1 more source

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics [PDF]

, 2019
The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system.
Sharda, S, Katherine A. Rauen, Legius, E, Ramesh, V, Rauen, Katherine A, Abeer Alsaegh, Eric Legius, Ludwine Messiaen, Yemima Berman, Fisher, Michael J, Kerr, Bronwyn, Tambe, A, Khire, Uday, Ratna Puri, Anup Raji, Brigitte C. Widemann, Alsaegh, Abeer, Shankar, Suma P, Nampoothiri, S, Luis F. Parada, Widemann, BC, Ratner, N, Elgersma, Ype; id_orcid, Wolkenstein, Pierre, Plotkin, SR, Wolkenstein, P, Fisher, MJ, D. Gareth Evans, George, Joshi, Shay Ben‐Shachar, Joshi George, Huson, Susan M, Joanne Ngeow, Nampoothiri, Sheela, Pierre Wolkenstein, Puri, Ratna, Huson, Susan M., Tambe, Anant, Ben‐Shachar, Shay, Rauen, Katherine A., Sharda, Sheetal, Plotkin, Scott R., Sheetal Sharda, Khire, U, Scott R. Plotkin, Evans, D Gareth, van Minkelen, Rick, Phadke, Shubha, Meena Upadhyaya, Berman, Y, Michael J. Fisher, Korf, Bruce, Shankar, Suma P., Vikkula, M, Evans, DG, Raji, Anup, Ype Elgersma, Messiaen, L, Vikkula, Miikka, Elgersma, Ype, Bruce Korf, Rauen, KA, Ramesh, Vijaya, Legius, Eric, Kerr, B, Ben-Shachar, Shay, Susan M. Huson, Anant Tambe, Parada, LF, Vijaya Ramesh, Bronwyn Kerr, Blakeley, J, Rick van Minkelen, Uday Khire, Ngeow, J, Miikka Vikkula, Isabel Cordeiro, Nancy Ratner, Phadke, S, Ben-Shachar, S, Alsaegh, A, Huson, S M, Upadhyaya, M, Shubha Phadke, Blakeley, Jaishri, Ngeow, Joanne, Widemann, Brigitte C., Korf, B, Frayling, Ian M., Jaishri Blakeley, Parada, Luis F, Fisher, Michael J., Cordeiro, I, Frayling, IM, Shankar, SP, Widemann, Brigitte C, Ian M. Frayling, Frayling, Ian M, Sheela Nampoothiri, Upadhyaya, Meena, Puri, R, Ashok Pillai, Parada, Luis F., Pillai, Ashok, Pillai, A, Ratner, Nancy, Berman, Yemima, Cordeiro, Isabel, George, J, Raji, A, Plotkin, Scott R, Messiaen, Ludwine, Evans, D. Gareth, Suma P. Shankar   +113 more
core   +1 more source

Neurofibromatosis: part 2 – clinical management

Arquivos de Neuro-Psiquiatria, 2015
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors
Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin Martins, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal, Vanessa Waisberg, Yehuda Waisberg, Luiz Oswaldo Carneiro Rodrigues   +27 more
doaj   +1 more source

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Archives of Medical Science, 2019
Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care ...
Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca   +3 more
doaj   +1 more source