Results 31 to 40 of about 30,899,280 (234)

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

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

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

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

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

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

Neurofibromatosis Type 1 in Pregnancy [PDF]

, 2006
The report presents two cases of neurofibromatosis type 1 one previously known and one detected during pregnancy. It describes how the disease was detected and diagnosed, and what was the outcome of pregnancies.
Márton, Ingrid, Ingrid Márton, Košec, Vesna, Vesna Košec   +3 more
core   +2 more sources

Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]

, 2018
Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 (NF1) and to ascertain how closely objective and subjective measures align.
Williams, V., Ferner, R.E., Rebecca Smith, Thomas, M., Rebecca L Mullin, John F Golding, Mary Thomas, Mullin, R.L., Golding, J.F., Victoria Williams, Rosalie E Ferner, Smith, R.   +11 more
core   +1 more source