Results 41 to 50 of about 1,956 (168)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 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

Schwannomatosis

Romanian Neurosurgery
Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and rarely meningiomas. People with schwannomatosis are most commonly present between the second and fourth decades of life. The most common feature is localized or diffuse pain or an asymptomatic mass. Schwannomas most commonly involve peripheral and spinal nerves. We
Younes Dehneh, Hamid Khay, Mohamed Khoulali, Moufid Faycal   +3 more
openaire   +1 more source

Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis

Biomedicines
Background: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal ...
Quynh Tran Thuy Huong, Linh Tran Nguyen Truc, Hiroko Ueda, Kenji Fukui, Koichiro Higasa, Yoshinori Sato, Shinichi Takeda, Motoshi Hattori, Hiroyasu Tsukaguchi   +8 more
doaj   +1 more source

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

Indian Spine Journal, 2019
Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, Volume 10, Issue 3, Page 240-248, June 2026.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +1 more source

Comparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring

Scientific Reports
To compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS).
Isabel Gugel, Nuran Aboutaha, Bianca Pfluegler, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Florian Grimm   +6 more
doaj   +1 more source

Spinal Schwannomatosis

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA, 2018
Schwannomatosis is a rare tumor syndrome characterized by more than one schwannoma without any evidence of other manifestations of neurofibromatosis (NF). A 32-year-old woman was admitted to our hospital because of weakness in her lower extremities. Neurological examination revealed paraparesis with hypoesthesia below T8 level.
Maurus Marques de Almeida Holanda, Daniel De Araujo Paz, Luiz Márcio De Brito Marinho Segundo, Christian Diniz Ferreira   +3 more
openaire   +2 more sources

Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. [PDF]

PLoS ONE, 2012
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately.
Scott R Plotkin, Miriam A Bredella, Wenli Cai, Ara Kassarjian, Gordon J Harris, Sonia Esparza, Vanessa L Merker, Lance L Munn, Alona Muzikansky, Manor Askenazi, Rosa Nguyen, Ralph Wenzel, Victor F Mautner   +12 more
doaj   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, Volume 109, Issue 5, Page 859-868, May 2026.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source