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[HNPCC syndrome, microsatellite instability and NF1 gene alteration].

Puisieux(A) Bull Cancer 1999-10-00

...NF1 gene appears to be a preferential mutational target. Implications of this observation are discussed.

Neurofibromin modulation of ras activity is required for normal endocardial-mes…

Lakkis(MM),Epstein(JA) Development 1998-11-00

...Nf1 neurofibromatosis gene is required to regulate this event. In the absence of neurofibromin, mouse embryo hearts deve...

Neurofibromatosis: clinical presentations and anaesthetic implications.

Hirsch(NP),Murphy(A),Radcliffe(JJ) Br J Anaesth 2001-04-00

...NF1) which varies in severity but which can affect all physiological systems. Neurofibromas are the characteristic lesio...

Septum pellucidum hamartomas in neurofibromatosis type 1.

Sener(RN) J Neuroradiol 2000-03-00

...NF1). In a retrospective study of 86 cases with NF1 we found three patients with septum pellucidum hamartomas (frequency...

Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibro…

Saito(S),Omori(T),Murasugi(S),Yonezawa(M),Ta… Case Rep Gastroenterol 2023-00-00

...NF1). We performed a surgical removal of the tumor, and the biopsy results led to a definitive diagnosis of GIST. Small ...

[Clinical diagnosis and treatment of optic nerve glioma: a review].

Ren(TT),Ma(JM) Zhonghua Yan Ke Za Zhi 2023-05-11

...NF1)-associated types. The histological type is mainly a low-grade pilocytic astrocytoma. The typical clinical manifesta...

Neurofibromatosis-related phaeochromocytoma: two cases with large tumours and e…

Teasdale(Stephanie),Reda(Elham) Endocrinol Diabetes Metab Cas… 2015-08-14

We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1...

Desmoplastic melanoma of the eyelid and conjunctival melanoma in neurofibromato…

Rubinstein(Tal J),Plesec(Thomas P),Singh(Aru… Surv Ophthalmol 2015-05-29

A 56-year-old woman with neurofibromatosis type 1 (NF1) presented with a left upper eyelid amelanotic nodule with adjace...

A Rare Case of Neuroendocrine Tumor in a Patient With Neurofibromatosis Type 1:…

Baddi(FZ),Ahsayen(FZ),Ramdani(H),Rhazari(M),… Cureus 2022-09-00

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition characterized by café-au-lait spots, cutaneous neurofi...

Novel germinal mutation in NF1: case report.

Arredondo Montero(J),López Arbues(S),Bronte … Mol Biol Rep 2021-11-00

...NF1 gene was detected. There was no family history of diagnosed NF1. Neuroimaging studies showed myelin vacuolization in...

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