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Incidence of Ophthalmological Complications in NF-1 Patients Treated with MEK I…

Hummel(L),Ameri(M),Alqahtani(S),Sadighi(Z),A… Curr Oncol 2024-00-07

...NF1 population by examining the occurrence of ocular adverse events (OAE). A retrospective study evaluated 45 NF1 patien...

Intrathoracic meningocele associated with neurofibromatosis Type 1 and a novel …

Das(P),Goyal(T),Hunt(MA) J Neurosurg Spine 2017-09-00

Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to bot...

Feasibility and acceptability of a telehealth intervention for improving peer r…

Glad(DM),Pardej(SK),Olszewski(E),Klein-Tasma… J Pediatr Psychol 2024-09-01

Elevated rates of social difficulties are evident for children and adolescents with neurofibromatosis type 1 (NF1) but t...

Multiparametric whole-body MRI of patients with neurofibromatosis type I: spect…

Thakur(U),Ramachandran(S),Mazal(AT),Cheng(J)… Skeletal Radiol 2025-03-00

...NF1 vary, and patients develop benign peripheral nerve sheath tumors and malignant neoplasms, such as malignant peripher...

Genetic driver mutations define the expression signature and microenvironmental…

Herting(CJ),Chen(Z),Pitter(KL),Szulzewsky(F)… Glia 2017-00-00

...NF1-silencing as a driver mutation. This model shows significant differences in tumor microenvironment, expression of su...

Autism spectrum disorder profiles in RASopathies: A systematic review.

Debbaut(E),Steyaert(J),El Bakkali(M) Mol Genet Genomic Med 2024-04-00

...NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Individuals with NF1, NS, ...

Somatic loss of function mutations in neurofibromin 1 and MYC associated factor…

Belinsky(Martin G),Rink(Lori),Cai(Kathy Q),C… BMC Cancer 2016-06-29

...NF1) gene was identified in the patient's GIST; however, no germline NF1 mutation was found. A somatic frameshift mutati...

Nerve ultrasound in neurofibromatosis type 1: A follow-up study.

Telleman(JA),Stellingwerff(MD),Brekelmans(GJ… Clin Neurophysiol 2018-00-00

...NF1). Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper...

Clinical features and molecular genetics of patients with RASopathies: expandin…

Yılmaz Uzman(C),Gürsoy(S),Özkan(B),Vuran(G),… Eur J Pediatr 2024-12-27

...NF1 genes. In this study, we described rare clinical manifestations and detected three novel variants in NF1, BRAF, and ...

Corrigendum to "Evaluation of NF1 and RASA1 gene expression in endometriosis" […

Yarahmadi(G),Dehghanian(M),Sandoghsaz(RS),Sa… Eur J Obstet Gynecol Reprod B… 2023-03-00

[This corrects the article DOI: 10.1016/j.eurox.2022.100152.].

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