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Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Qu…

Crawford(H),North(K),Wilson(MJ),Berman(Y),Mc… Clin Exp Dermatol 2021-08-02

...NF1. The NF1-AdQoL is a relatively valid, feasible and fairly easy to read tool to measure the HRQoL of adults with NF1....

Serum biomarkers for neurofibromatosis type 1 and early detection of malignant …

Park(SJ),Sawitzki(B),Kluwe(L),Mautner(VF),Ho… BMC Med 2013-04-23

...NF1. Because early identification of patients with NF1 at risk for developing MPNST should improve their clinical outcom...

Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic NF1 and No…

Burgoyne(AM),De Siena(M),Alkhuziem(M),Tang(C… JCO Precis Oncol 2017-00-00

...NF1, most commonly associated with neurofibromatosis type 1. We define the anatomic distribution of NF1 alterations in G...

Identification and characterization of NF1-related loci on human chromosomes 22…

Hulsebos(TJ),Bijleveld(EH),Riegman(PH),Smink… Hum Genet 1996-07-00

...NF1-related loci in the human genome. In this study, we have localized an NF1-related locus in the most centromeric regi...

Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion sy…

Wegscheid(ML),Anastasaki(C),Hartigan(KA),Cob… Cell Rep 2021-07-06

...NF1 gene and flanking regions (NF1 total gene deletion [NF1-TGD]). Using patient-derived human induced pluripotent stem ...

Identification of growth hormone receptor in localised neurofibromas of patient…

Cunha(KS),Barboza(EP),Da Fonseca(EC) J Clin Pathol 2003-10-00

...NF1) is the development of multiple neurofibromas. Solitary neurofibroma may occur in an individual who does not have NF...

Social functioning in adults with neurofibromatosis type 1.

Pride(NA),Crawford(H),Payne(JM),North(KN) Res Dev Disabil 2013-10-00

...NF1. We aimed to determine whether adults with NF1 are at greater risk for impairment in social skills and to identify p...

ERK inhibition rescues defects in fate specification of Nf1-deficient neural pr…

Wang(Y),Kim(E),Wang(X),Novitch(BG),Yoshikawa… Cell 2012-08-17

...NF1), an NCFC syndrome, is caused by loss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromi...

Identification and characterization of the neurofibromatosis type 1 protein pro…

DeClue(JE),Cohen(BD),Lowy(DR) Proc Natl Acad Sci U S A 1991-11-15

...NF1 (NF1-GRD). These antisera immunoprecipitated the NF1-GRD peptide, and one of them specifically inhibited the GTPase-...

Fluorescence in situ hybridization analysis of allelic losses involving the lon…

De Luca(A),Bernardini(L),Ceccarini(C),Siniba… Cancer Genet Cytogenet 2004-04-15

...NF1) is a common autosomal dominant condition associated with germline mutations of the NF1 gene located at chromosome b...

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