Results 11 to 20 of about 34,178 (233)

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience

Endocrine Oncology, 2023
Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25–40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were ...
José V Lima Jr, Nilza M Scalissi, Kelly C de Oliveira, Susan C Lindsey, Caroline Olivati, Elisa Napolitano Ferreira, Claudio E Kater   +6 more
doaj   +1 more source

Cost Analysis of Orthoptist-Led Neurofibromatosis Type 1 Screening Clinics

British and Irish Orthoptic Journal, 2023
Purpose: To conduct a costing study comparing orthoptist-led with consultant-led clinics screening for optic pathway gliomas (OPGs) in children with neurofibromatosis Type 1 (NF1) attending the Royal Children’s Hospital (RCH), Melbourne.
Navdeep Kaur, Catherine Lewis, Sandra Staffieri, Jonathan Ruddle, Ilias Goranitis, Jay Stiles, Gabriel Dabscheck   +6 more
doaj   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Motor problems in children with neurofibromatosis type 1

Journal of Neurodevelopmental Disorders, 2017
Background Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one ...
André B. Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G. Hendriksen, Caspar W. N. Looman, Pieter F. A. de Nijs, Marie-Claire de Wit   +8 more
doaj   +1 more source

Synergy between loss of NF1 and overexpression of MYCN in neuroblastoma is mediated by the GAP-related domain

eLife, 2016
Earlier reports showed that hyperplasia of sympathoadrenal cell precursors during embryogenesis in Nf1-deficient mice is independent of Nf1’s role in down-modulating RAS-MAPK signaling.
Shuning He, Marc R Mansour, Mark W Zimmerman, Dong Hyuk Ki, Hillary M Layden, Koshi Akahane, Evisa Gjini, Eric D de Groh, Antonio R Perez-Atayde, Shizhen Zhu, Jonathan A Epstein, A Thomas Look   +11 more
doaj   +1 more source

Neurofibromatosis type 1-dependent alterations in mouse microglia function are not cell-intrinsic

Acta Neuropathologica Communications, 2023
We previously discovered a sex-by-genotype defect in microglia function using a heterozygous germline knockout mouse model of Neurofibromatosis type 1 (Nf1 ± mice), in which only microglia from male Nf1 ± mice exhibited defects in purinergic signaling ...
Francesca Logiacco, Laura Cathleen Grzegorzek, Elizabeth C. Cordell, Oliver Popp, Philipp Mertins, David H. Gutmann, Helmut Kettenmann, Marcus Semtner   +7 more
doaj   +1 more source

My life with NF1 [PDF]

Archives of Disease in Childhood, 2004
The index of the most recent edition of the standard UK paediatric textbook refers the reader to 10 pages featuring neurofibromatosis. Reading them one learns about the diagnostic criteria, neuroimaging features, genetics, and the special features of eye and skin involvement but not about on how patients might feel.
openaire   +2 more sources

Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs

Cancer Management and Research, 2021
Jinchun Wu,1 Haiyan Zhou,2 Xiaoping Yi,3 Qiongzhi He,4 Tianxiang Lei,5 Fengbo Tan,5 Heli Liu,5 Bin Li1 1Department of Oncology, Xiangya Hospital, Central South University, Changsha 410008, People’s Republic of China; 2Department of Pathology ...
Wu J, Zhou H, Yi X, He Q, Lei T, Tan F, Liu H, Li B   +7 more
doaj  

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

Scientific Reports, 2021
Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports.
Cecilie Ejerskov, Mette Gaustadnes, John R. Ostergaard, klaus Krogh, Kasper Thorsen, Anders D. Borglum, Annette Haagerup   +6 more
doaj   +1 more source

Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature

Türk Oftalmoloji Dergisi, 2023
Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy.
Ece Özdemir Zeydanlı, Şengül Özdek
doaj   +1 more source