Results 41 to 50 of about 31,197,545 (235)

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

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

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

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

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

Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes

Cardiogenetics, 2014
RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
doaj   +1 more source

The RASopathies: from pathogenetics to therapeutics

Disease Models & Mechanisms, 2022
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe   +2 more
doaj   +1 more source

Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]

, 2010
Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Amanjit Bahl, Gupta, A, Sandeep Bansal, Sanjeev Bhagat, Ashok Gupta, Bahl, A, Bansal, S, Bhagat, S   +7 more
core  

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +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