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Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Au…

Bilder(DA),Bakian(AV),Stevenson(DA),Carbone(… J Autism Dev Disord 2016-10-00

...NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were ...

Double-balloon enteroscopy for the detection of GIST in a patient with type 1 n…

Guo(LL),Chen(JL),Wang(LS),Yao(J) Rev Esp Enferm Dig 2025-00-00

...NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due...

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking ov…

Tripolszki(K),Farkas(K),Sulák(A),Szolnoky(G)… Clin Exp Dermatol 2017-10-00

...NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene....

[Pathogenic alterations within the neurofibromin gene in various cancers].

Nagy(Á),Garzuly(F),Kálmán(B) Magy Onkol 2017-12-18

...NF1 in several malignant and benign tumors. NF1 mutations have been identified in a great number of solid tumors, leukem...

Concurrent SOS1 and MEK suppression inhibits signaling and growth of NF1-null m…

Marasco(M),Kumar(D),Seale(T),Borrego(SG),Kap… Cell Rep Med 2024-11-19

...NF1) is a negative regulator of RAS signaling, frequently mutated in cancer. NF1-mutant melanoma is a highly malignant t...

Amusia and its electrophysiological correlates in neurofibromatosis type 1.

Cota(BCL),Fonseca(JGM),Rodrigues(LOC),Rezend… Arq Neuropsiquiatr 2018-05-00

...NF1) and they often report difficulties in musical performance. We investigated whether NF1 could be associated with amu...

Advancement in research and therapy of NF1 mutant malignant tumors.

Tao(J),Sun(D),Dong(L),Zhu(H),Hou(H) Cancer Cell Int 2020-00-00

...NF1-mutated malignant tumors. In addition, therapies targeting the downstream molecules of NF1 might be potential novel ...

[Clinical diagnosis of neurofibromatosis type 1].

Wolkenstein(P),Zeller(J) Presse Med 1999-12-11

...NF1) AND TO DETECT ITS COMPLICATIONS: NF1 is the commonest autosomal dominant (1/3000 à 3500 births). Café au lait spots...

Neurofibromin, the neurofibromatosis type 1 Ras-GAP, is required for appropriat…

Rosenbaum(T),Kim(HA),Boissy(YL),Ling(B),Ratn… Ann N Y Acad Sci 1999-09-14

...Nf1, suggesting a role for Ras in upregulation of P0 expression in Nf1-deficient cells. We tested whether loss of Nf1 al...

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with singl…

Peters(H),Lüder(A),Harder(A),Schuelke(M),Tin… Hum Mutat 1999-00-00

...NF1 exons 28 and 29 from 118 unrelated patients, diagnosed with NF1 according to the NIH criteria, identifying five nove...

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