Results 51 to 60 of about 3,249 (205)

MUTATIONS OF THE SMARCB1 GENE IN HUMAN CANCERS

Alʹmanah Kliničeskoj Mediciny, 2017
In the recent years, the full exome sequencing helped to reveal a  set of mutations in the genes that are not oncogenes or tumor suppressor genes by definition, but play an important role in carcinogenesis and encode proteins involved in chromatin ...
D. S. Mikhaylenko, M. V. Teleshova, G. D. Efremov, B. Y. Alekseev   +3 more
doaj   +1 more source

Whole-body imaging in schwannomatosis [PDF]

Neurology, 2011
A 23-year-old man with schwannomatosis1 was imaged with whole-body MRI and 18F FDG-PET to assess the extent of disease prior to initiating systemic therapy for new and growing tumors. The patient had undergone multiple prior resections of schwannomas from peripheral nerves. …
Avneesh, Chhabra, Jaishri, Blakely
openaire   +2 more sources

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]

, 2015
Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R, Batra S, de Champfleur NM, DeAngelis LM, Haasdijk RA, Labauge P, Lehnhardt FG, Marosi C, Riant F, Riemenschneider MJ, Schröder W, Shen Y, Spiegler S, Whittle IR, Zabramski JM   +14 more
core   +1 more source

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma [PDF]

, 2021
Purpose: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in
Evans, D. Gareth, Foulkes, William D., Irving, Rachel E. A., McDonald McGinn, Donna M., Messiaen, Ludwine M., Murray, Alexandra J., Perez-becerril, Cristina, Rivera, Barbara, Smith, Miriam J., Stevenson, David A.   +9 more
core   +1 more source

Schwannomatosis of the tibial nerve

International Journal of Research in Orthopaedics, 2021
<p class="abstract">Schwannoma is the most common type of benign tumor arising from the sheaths of the peripheral nerves. It occurs as a solitary tumor in most cases, but when it appears in multiple forms, it is necessary to differentiate it from plexiform schwannoma, schwannomatosis, neurofibroma and malignant peripheral nerve tumors.
Jin Woo Jin, Sung Jin Shin, Tae Hyeon Park   +2 more
openaire   +2 more sources

Schwannomatosis of a Single Intercostal Nerve: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
Schwannomatosis is a rare form of neurofibromatosis and is characterized by more than one schwannoma without any sign of neurofibromatosis. We report a case of a 60-year-old male patient admitted with progressive chest discomfort who was found to have ...
Jui-Wen Lee, Jane-Yi Hsu
doaj   +1 more source

Genotyping Cancer-Associated Genes in Chordoma Identifies Mutations in Oncogenes and Areas of Chromosomal Loss Involving CDKN2A, PTEN, and SMARCB1 [PDF]

, 2014
The molecular mechanisms underlying chordoma pathogenesis are unknown. We therefore sought to identify novel mutations to better understand chordoma biology and to potentially identify therapeutic targets.
Choy, Edwin, Cote, Gregory M., Duan, Zhenfeng, Garraway, Levi A., Hornicek, Francis J., Iafrate, Anthony J., Le, Long P., MacConaill, Laura E., Nielsen, Gunnlaugur P., Shen, Jacson K.   +9 more
core   +3 more sources

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]

, 2016
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core   +1 more source