Results 41 to 50 of about 124,379,666 (230)

Zebrafish neurofibromatosis type 1 genes have redundant functions in tumorigenesis and embryonic development

Disease Models & Mechanisms, 2012
SUMMARY Neurofibromatosis type 1 (NF1) is a common, dominantly inherited genetic disorder that results from mutations in the neurofibromin 1 (NF1) gene.
Jimann Shin, Arun Padmanabhan, Eric D. de Groh, Jeong-Soo Lee, Sam Haidar, Suzanne Dahlberg, Feng Guo, Shuning He, Marc A. Wolman, Michael Granato, Nathan D. Lawson, Scot A. Wolfe, Seok-Hyung Kim, Lilianna Solnica-Krezel, John P. Kanki, Keith L. Ligon, Jonathan A. Epstein, A. Thomas Look   +17 more
doaj   +1 more source

Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]

Middle East Journal of Cancer, 2021
With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan, Marlina Tanty Ramli Hamid, Caroline Judy Westerhout, Tan Tze, Jayalakshmi Pailoor, Kartini Rahmat   +5 more
doaj   +1 more source

Identification of the neurofibromatosis type 1 gene product. [PDF]

Proceedings of the National Academy of Sciences, 1991
The gene for neurofibromatosis type 1 (NF1) was recently identified by positional cloning. The complete cDNA encodes a polypeptide of 2818 amino acids. To study the NF1 gene product, antibodies were raised against both fusion proteins and synthetic peptides.
D H, Gutmann, D L, Wood, F S, Collins
openaire   +2 more sources

Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors. [PDF]

J Neuroendocrinol
Abstract The incidence of duodenal and pancreatic neuroendocrine tumors (dpNETs) has increased substantially in recent years. These tumors may be due to syndromic hereditary predisposition syndromes: multiple endocrine neoplasia type 1 (MEN1) or 4 (MEN4), Von Hippel–Lindau disease (VHL), neurofibromatosis type 1 (NF1), or tuberous sclerosis complex ...
Charnay T, Giannetti C, Sahakian N, Haissaguerre M, Oziel-Taieb S, Mari V, Gilly O, Vital P, Raingeard I, Découdier B, Astier A, Cuny T, Romanet P, Barlier A.   +13 more
europepmc   +2 more sources

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: an Evolutive Approach [PDF]

, 2019
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes ...
Reis, Larissa Brussa, Rosset, Clévia, Prolla, Patrícia Ashton, Zolet, Andreia Carina Turchetto, Fonini, Maievi   +4 more
core   +1 more source

Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]

, 2016
Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda, Asahina, Izumi, Izumi Asahina, Yamashita, Hiromi, Fujita, Shuichi, Ikeda, Tohru, Shuichi Fujita, Hiromi Yamashita   +7 more
core   +1 more source

Influence of cellular models and individual factor in the biological response to chest CT scan exams

European Radiology Experimental, 2022
Background While computed tomography (CT) exams are the major cause of medical exposure to ionising radiation, there is increasing evidence that the potential radiation-induced risks must be documented.
Clément Devic, Larry Bodgi, Laurène Sonzogni, Frank Pilleul, Hervé Ribot, Charlotte De Charry, François Le Moigne, Didier Paul, Fanny Carbillet, Mélodie Munier, Nicolas Foray   +10 more
doaj   +1 more source

Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso

Revista Colombiana de Ortopedia y Traumatología
Introducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas, Juan Pablo López-García, Carlos Enrique Ramírez-Dávila, Mauricio Zuluaga-Botero, Paola Andrea Kafury-Goeta, Carlos Andrés Lores-Restrepo   +5 more
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source