Results 131 to 140 of about 23,942 (228)

Precision Oncology for Pediatric Solid Tumors Using In‐Hospital Pediatric/AYA Malignancy‐Specific Panel Sequencing

Cancer Science, Volume 117, Issue 3, Page 797-806, March 2026.
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima, Sho Kurihara, Isamu Saeki, Ryo Touge, Keigo Nakashima, Shuhei Karakawa, Fumiyuki Yamasaki, Satoshi Okada, Eiso Hiyama   +8 more
wiley   +1 more source

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +2 more sources

Functional regulation of the Neurofibromatosis 2 tumor suppressor merlin [PDF]

, 2011
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder manifested by the formation of multiple benign tumors of the nervous system. Affected individuals typically develop bilateral vestibular schwannomas which lead to deafness and balance disorders.
Pehrsson, Minja
core  

Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma

Research and Reports in Urology, 2017
Morten Steen Svarer Hansen,1 Niels Jacobsen,1 Anja Lisbeth Frederiksen,2 Lars Lund,3 Marianne Skovsager Andersen,1 Dorte Glintborg1 1Department of Endocrinology and Metabolism, 2Department of Clinical Genetics, 3Department of Urology, Odense University ...
Hansen MSS, Jacobsen N, Frederiksen AL, Lund L, Andersen MS, Glintborg D   +5 more
doaj  

Therapeutic Challenges in the Management of Collecting Duct Carcinoma of the Kidney: A Case Report with Review of Literature

Indian Journal of Medical and Paediatric Oncology
Collecting duct carcinoma (CDC) of the kidney is a rare type of renal cell carcinoma. It is an aggressive tumor with a poor prognosis and limited treatment options. A 67-year-old man, during evaluation for hematuria, loss of appetite and weight loss, and
Arathi Edayattil, Sanudev Sadanandan Vadakke, Mohamed Jabir, Supriya NK, Vivek Mathew James, Prasanth S Ariyannur   +5 more
doaj   +1 more source

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient

Frontiers in Neurology
The RASopathies, collectively, are a spectrum of genetic syndromes caused by mutations in genes involved in the RAS/ mitogen-activated protein kinase (MAPK) pathway, including but not limited to PTPN11, NRAS, KRAS, HRAS, BRAF, and MAP2K1.
Margarita Dionysiou, Stavriani C. Makri, Shivani Ahlawat, Melike Guryildirim, Kristin W. Barañano, Mari L. Groves, Pedram Argani, Christine A. Pratilas   +7 more
doaj   +1 more source

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications

Archives of Gynecology and Obstetrics
A relevant proportion of malignancies predominantly or exclusively affecting women, including breast and gynecologic cancers, is attributable to hereditary tumor syndromes, profoundly impacting cancer risk, prognosis, and therapeutic management.
Annika Krückel, Julia Gocke, Manuel Hörner, Katharina Keller, Carolin Müller, Lena Brückner, Felix Heindl, Carolin C. Hack, Matthias W. Beckmann, Niklas Amann   +9 more
doaj   +1 more source

The Neurofibromatosis Type 2 Gene Is Mutated in Perineurial Cell Tumors [PDF]

The American Journal of Pathology, 2001
Jerzy Lasota, John F. Fetsch, Agnieszka Wozniak, Bartek Wasag, Raf Sciot, Markku Miettinen   +5 more
openaire   +1 more source

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source