Update on pediatric cancer surveillance recommendations for patients with neurofibromatosis type 1, noonan syndrome, CBL syndrome, Costello syndrome, and …
MR Perrino, A Das, SR Scollon, SG Mitchell… - Clinical Cancer …, 2024 - aacrjournals.org
Abstract Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes,
grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and …
grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and …
[HTML][HTML] Biomarker Landscape in RASopathies
N Ferrito, J Báez-Flores, M Rodríguez-Martín… - International Journal of …, 2024 - mdpi.com
RASopathies are a group of related genetic disorders caused by mutations in genes within
the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and …
the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and …
Role of long non-coding RNAs in neurofibromatosis and Schwannomatosis: pathogenesis and therapeutic potential
MS Hussain, S Sharma, A Kumari, A Kamran… - …, 2024 - Taylor & Francis
Neurofibromatosis (NF) is identified as genetic disorder characterized by multiple tumors on
nerve tissues. NF1 is the most prevalent form, identified by neurofibromas and skin changes …
nerve tissues. NF1 is the most prevalent form, identified by neurofibromas and skin changes …
Reverse repurposing: Potential utility of cancer drugs in nonmalignant illnesses
M Nikanjam, K Wells, S Kato, JJ Adashek, S Block… - Med, 2024 - cell.com
Growth and immune process dysregulation can result in both cancer and nonmalignant
disease (hereditary or acquired, with and without predisposition to malignancy). Moreover …
disease (hereditary or acquired, with and without predisposition to malignancy). Moreover …
[HTML][HTML] Expanding the clinical spectrum of 19p13. 3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
W Sun, H Yan, M Sun, J Wang, K Li - BMC pediatrics, 2025 - pmc.ncbi.nlm.nih.gov
Background Common clinical findings in patients with 19p13. 3 duplication include
intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and …
intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and …
Noonan syndrome‐like disorder: Case report and review of the literature
K Mar, JM Lam - Pediatric Dermatology, 2024 - Wiley Online Library
Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to
pathological variants in CBL, also known as Noonan syndrome‐like disorder (NSLD). We …
pathological variants in CBL, also known as Noonan syndrome‐like disorder (NSLD). We …
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome
A Kawashima, H Nakamura… - … Tohoku journal of …, 2024 - pubmed.ncbi.nlm.nih.gov
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous
Syndrome Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and …
Syndrome Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and …
[PDF][PDF] RASopátiák diagnosztikai és terápiás eszköztára
PB Botos, J Erhardt, S Jenei, LK Li, SD Kovács… - MAGYAR …, 2024 - huon.hu
Botos PB, Erhardt J, Jenei S, Li LK, Kovács SD, Egyed B, Beniczky NJ, Erdélyi D, Müller J,
Brückner E, Csóka M, Szabó A, Környei L, Bertalan R, Kovács G, Vilmányi C, Garami M …
Brückner E, Csóka M, Szabó A, Környei L, Bertalan R, Kovács G, Vilmányi C, Garami M …