Results 31 to 40 of about 31,197,545 (235)

Skeletal anomalies in patients with neurofibromatosis type 1

Гений oртопедии, 2022
Introduction Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor syndromes. The average incidence of NF1 in the world is 1:3000 of the population.
Rustam N. Mustafin
doaj   +1 more source

Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors. [PDF]

PLoS ONE, 2017
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients.
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo   +3 more
doaj   +1 more source

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

Frontiers in Neurology, 2021
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance.
Wei Wang, Cheng-Jiang Wei, Xi-Wei Cui, Yue-Hua Li, Yi-Hui Gu, Bin Gu, Qing-Feng Li, Zhi-Chao Wang   +7 more
doaj   +1 more source

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

Frontiers in Genetics, 2020
IntroductionIn this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case reportA 62-year-old female NF1 patient presented
Cleandra Gregório, Cleandra Gregório, Clévia Rosset, Laura da Silva Alves, Cristina Brinkmann Oliveira Netto, Simone Marcia dos Santos Machado, Vivian Pierri Bersch, Vivian Pierri Bersch, Alessandro Bersch Osvaldt, Alessandro Bersch Osvaldt, Alessandro Bersch Osvaldt, Patricia Ashton-Prolla, Patricia Ashton-Prolla, Patricia Ashton-Prolla   +13 more
doaj   +1 more source

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene [PDF]

Genomics, 1992
Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic disorder neurofibromatosis 1 (NF1). The pleomorphic cutaneous lesions of NF1 and the precedent for other genes being embedded within the NF1 gene prompted us to ...
Kayes, Lucille M., Schroeder, Wanda T., Marchuk, Douglas A., Collins, Francis S., Riccardi, Vincent M., Duvic, Madeleine, Stephens, Karen   +6 more
openaire   +3 more sources

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

Active Middle Ear Implant in a Patient with Neurofibromatosis Type 1 and Multiple Calvarial Defects: A Case Report

, 2022
Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare.
Nakamura, Takeshi, Takeshi Nakamura, Kajihara, Kei, Ganaha, Akira, Keiji Matsuda, Tetsuya Tono, Matsuda, Keiji, Tono, Tetsuya, Akira Ganaha, Kei Kajihara   +9 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

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