Literature Search

Rosnau(K),Hashmi(SS),Northrup(H),Slopis(J),N… J Genet Couns 2017-06-00

...NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Addi...

Cieza Rivera(AM),Lobato Fuertes(C),Fernández… Orphanet J Rare Dis 2024-02-24

...NF1 patients' QoL negatively. NF1 considerably influences the psychological well-being of NF1 patients. We observed that...

Fukunaga(N),Hayashi(T),Yamada(Y),Mizobuchi(K… Ophthalmic Genet 2024-04-00

...NF1 patients. Herein, we report a novel NF1 variant in an NF1 patient with bilateral optic atrophy. Ophthalmological exa...

Li(K),Turner(AN),Chen(M),Brosius(SN),Schoeb(… Dis Model Mech 2016-00-01

...Nf1(Arg681*) mutation are not viable. Mice with one Nf1(Arg681*) allele in combination with a conditional floxed Nf1 all...

Weiss(JB),Weber(SJ),Torres(ERS),Marzulla(T),… Behav Brain Res 2017-00-15

...NF1 for both associative learning and sleep. Inhibition of Alk improves associative learning and sleep in heterozygous N...

Santoro(C),Di Rocco(F),Kossorotoff(M),Zerah(… Am J Med Genet A 2017-06-00

...NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years...

Luijten(M),Wang(Y),Smith(BT),Westerveld(A),S… Eur J Hum Genet 2000-03-00

...NF1 protein, is presented in this pseudogene. In addition to the two known NF1 pseudogenes on chromosome 14 we identifie...

Serra(E),Ars(E),Ravella(A),Sánchez(A),Puig(S… Hum Genet 2001-05-00

...NF1 mutations found. Somatic point mutations or the presence of "two hits" in the NF1 gene have only been reported for a...

Suarez(GO),Kumar(DS),Brunner(H),Knauss(A),Ba… J Neurosci 2025-04-16

...Nf1. Loss of Nf1 increased spontaneous grooming in male and female flies. This followed a nonlinear spatial pattern, wit...

Afşar(CU),Kara(IO),Kozat(BK),Demiryürek(H),D… Crit Rev Oncol Hematol 2013-05-00

...NF1) is a genetic syndrome that predisposes patients to benign and malignant tumor development. Patients with NF1 develo...