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Type 1 neurofibromatosis gene: identification of a large transcript disrupted i…

Wallace(MR),Marchuk(DA),Andersen(LB),Letcher… Science 1990-07-13

...NF1 patients, are apparently located within introns of NF1LT, on the antisense strand. A new mutation patient with NF1 h...

From the archives of the AFIP: abdominal neoplasms in patients with neurofibrom…

Levy(AD),Patel(N),Dow(N),Abbott(RM),Miettine… Radiographics 2005-00-00

...NF1) is one of the most common genetic disorders. NF1 is a complex disease resulting from a spectrum of mutations that m...

Clinical and genetic significance of unilateral Lisch nodules.

Ceuterick(SD),Van Den Ende(JJ),Smets(RM) Bull Soc Belge Ophtalmol 2005-00-00

...NF1 was the most probable diagnosis and in one case isolated Lisch nodules were observed. Of the 35 NF1 patients 28 ulti...

Is double inactivation of the Nf1 gene responsible for the development of conge…

Lee(SM),Choi(IH),Lee(DY),Lee(HR),Park(MS),Yo… J Orthop Res 2012-10-00

...NF1 using four genetic markers that span the Nf1 gene. Based on the assumption that a single cell with double inactivati...

Asfotase-α improves bone growth, mineralization and strength in mouse models of…

de la Croix Ndong(J),Makowski(AJ),Uppuganti(… Nat Med 2014-08-00

...NF1) can manifest focal skeletal dysplasias that remain extremely difficult to treat. NF1 is caused by mutations in the ...

Bridging the Diagnostic Gap in Neurofibromatosis Type 1: When to Consider NF1 c…

Doolan(BJ),Chiramel(MJ),Hendry(M),Shugar(A),… Pediatr Dermatol 2026-05-13

...NF1 clinical diagnostic criteria who had negative DNA-based NGS testing but were subsequently diagnosed using NF1 cDNA-b...

The absence that makes the difference: choroidal abnormalities in Legius syndro…

Tucci(A),Saletti(V),Menni(F),Cesaretti(C),Sc… J Hum Genet 2017-11-00

...NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically ind...

Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT…

Shibahara(I),Sonoda(Y),Suzuki(H),Mayama(A),K… Brain Tumor Pathol 2018-01-00

...NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed ...

Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability i…

Biotteau(M),Déjean(S),Lelong(S),Iannuzzi(S),… Front Neurol 2020-00-00

...NF1. No other cognitive differences emerge between sporadic and familial NF1. Conclusions: Inheritance in NF1 failed to ...

Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumo…

Hsieh(HY),Fung(HC),Wang(CJ),Chin(SC),Wu(T) Seizure 2011-10-00

...NF1) patients. NF1 is one of the most common autosomal dominant neurocutaneous disorders, and epilepsy is more prevalent...

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