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Osteoclasts in neurofibromatosis type 1 display enhanced resorption capacity, a…

Heervä(Eetu),Alanne(Maria H),Peltonen(Sirkku… Bone 2011-01-26

...NF1 and control samples: samples from NF1 patients resulted in a higher number of resorbing OLCs; NF1 OLCs were larger i...

Increased rate of missense/in-frame mutations in individuals with NF1-related p…

Ben-Shachar(Shay),Constantini(Shlomi),Hallev… Eur J Hum Genet 2013-10-17

...NF1 gene mutations in NF1, NFNS and WS. The frequency of different NF1 mutation types in a cohort of published and unpub...

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Kehrer-Sawatzki(H),Mautner(VF),Cooper(DN) Hum Genet 2017-00-00

...NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these ...

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neur…

Sharma(Richa),Wu(Xiaohua),Rhodes(Steven D),C… Hum Mol Genet 2014-06-16

...NF1-associated fracture repair deficits. Nf1-deficient pro-OBLs exhibit Ras/MAPK hyperactivation. Introduction of the NF...

Identification of serum microRNAs in genome-wide serum microRNA expression prof…

Weng(Yuxiong),Chen(Yanhua),Chen(Jianghai),Li… Med Oncol 2013-10-24

...NF1) from NF1 patients. A total of 100 patients with NF1, 93 sporadic MPNST patients, and 71 NF1 MPNST patients were enr...

Pheochromocytoma in Neurofibromatosis Type 1: When Should it Be Suspected?

Shinall(Myrick C),Solórzano(Carmen C) Endocr Pract 2016-08-05

...NF1 patients be screened for pheochromocytoma if hypertension develops. We sought to compare NF1 and non-NF1 patients wi...

NF1 deficiency correlates with estrogen receptor signaling and diminished survi…

Dischinger(PS),Tovar(EA),Essenburg(CJ),Madaj… NPJ Breast Cancer 2018-00-00

...NF1 in breast cancer. We utilized CRISPR-Cas9 gene editing to create Nf1 rat models to evaluate the effect of Nf1 defici...

NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adu…

Kuorilehto(Tommi),Nissinen(Marja),Koivunen(J… J Bone Miner Res 2005-02-24

...NF1 gene was studied in embryonic and adult rodent skeleton and in NF1-deficient embryos. The NF1 gene was expressed int...

Neurofibromin C terminus-specific antibody (clone NFC) is a valuable tool for t…

Rossi(S),Gasparotto(D),Cacciatore(M),Sbaragl… Mod Pathol 2018-00-00

...NF1 inactivated); 38 were 'NF1-unrelated' (either wild-type or carrying non-pathogenic variants of NF1). Thirty-one addi...

Congenital anomalies in neurofibromatosis 1: a retrospective register-based tot…

Leppävirta(J),Kallionpää(RA),Uusitalo(E),Vah… Orphanet J Rare Dis 2018-00-15

...NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to...

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