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Atypical cellular neurothekeoma: a case report with a novel NF1 mutation.

de la Guardia(V),Castro-Pérez(E),Porcell(AI)… Diagn Pathol 2024-11-22

...NF1 mutation, not previously reported, which was identified using high-throughput molecular techniques. Such finding mig...

Colorectal cancer in a 13-year-old with constitutional mismatch repair deficien…

Cohan(CJ),Putzeys(CC),Pruniski(B),Tran(P) JPGN Rep 2025-08-00

...NF1) highlights the overlap between CMMRD and NF1, as their overlapping genetic pathologies can yield similar clinical m...

Diagnosis and clinical course of ocular ischemic syndrome with retinal vascular…

Sakai(H),Kawata(K),Masuoka(J),Nishimura(T),E… BMC Ophthalmol 2020-10-23

Neurofibromatosis type 1 (NF1) is a hereditary disease that causes neurofibromas generally, but it has been reported to ...

Clinical assessment of the use of topical liquid diclofenac following laser mic…

Oliveira(LB),Geller(M),Cunha(KS),Santos(A),B… Heliyon 2021-03-00

...NF1 and present a major clinical burden for patients. NF1 patients with cNF often report decreased quality of life, emot...

Delayed rectifier K currents in NF1 Schwann cells. Pharmacological block inhibi…

Fieber(LA),González(DM),Wallace(MR),Muir(D) Neurobiol Dis 2003-07-00

...NF1). Comparisons were made between whole cell voltage clamp recordings from normal human SC cultures and from neurofibr...

[Brain stem tumors associated with neurofibromatosis type 1. Presentation of 20…

Pascual Castroviejo(I),Pascual Pascual(S),Ve… Neurologia 2007-12-00

...NF1). All patients were first time studied before 11 years old. Clinical and magnetic resonance (MR) study were made in ...

[Imaging features of neurofibromatosis type 1].

Jacques(C),Dietemann(JL) J Neuroradiol 2005-06-00

Neurofibromatosis type 1 (NF1) is the most common of all the phakomatoses. It is an autosomal dominant disorder, with ab...

Exploring the common pathogenesis of Alzheimer's disease and type 2 diabetes me…

Ye(XW),Liu(MN),Wang(X),Cheng(SQ),Li(CS),Bai(… Front Aging Neurosci 2023-00-00

...NF1 significantly negatively with AD. In addition, we also found ADCY5 and NF1 significant correlations with DM phenotyp...

Imaging biomarkers for malignant peripheral nerve sheath tumors in neurofibroma…

Ahlawat(S),Blakeley(JO),Rodriguez(FJ),Fayad(… Neurology 2019-00-10

...NF1) for the characterization of peripheral nerve sheath tumors (PNSTs) as benign or malignant. This Institutional Revie...

Outcomes of growing rods in a series of early-onset scoliosis patients with neu…

Bouthors(C),Dukan(R),Glorion(C),Miladi(L) J Neurosurg Spine 2020-04-24

...NF1. This was a retrospective single-center cohort study that included consecutive EOS patients with NF1 who were treate...

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