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Nutritional, muscular and metabolic characteristics in patients with neurofibro…

Koga(Monji),Yoshida(Yuichi),Imafuku(Shinichi) J Dermatol 0000-00-00

...NF1 (41 men, 57 women) and 173 without NF1 (74 men, 99 women) were investigated. The median BMI in male NF1 patients was...

Neurofibromin is a novel regulator of Ras-induced reactive oxygen species produ…

Bessler(Waylan K),Hudson(Farlyn Z),Zhang(Han… Free Radic Biol Med 0000-00-00

...NF1) predisposes individuals to early and debilitating cardiovascular disease. Loss of function mutations in the NF1 tum...

Breast density in NF1 women: a retrospective study.

De Santis(R),Cagnoli(G),Rinaldi(B),Consonni(… Fam Cancer 2024-03-00

...NF1 compared to the general population. Mammograms from 98 NF1 women affected by NF1, and enrolled onto our monocentric ...

The pregnancy in neurofibromatosis 1: A retrospective register-based total popu…

Leppävirta(J),Kallionpää(RA),Uusitalo(E),Vah… Am J Med Genet A 2017-10-00

...NF1 than in the control group consisting of non-NF1 mothers giving birth to a non-NF1 child. The pregnancies of non-NF1 ...

Assessment of nociception and related quality-of-life measures in a porcine mod…

Khanna(R),Moutal(A),White(KA),Chefdeville(A)… Pain 2019-00-00

...NF1 pigs as a large animal model for studying NF1-associated pain and for understanding the pathophysiology of NF1. Our ...

Classification of NF1 microdeletions and its importance for establishing genoty…

Kehrer-Sawatzki(H),Cooper(DN) Hum Genet 2021-12-00

...NF1) harbour large deletions encompassing the NF1 gene and flanking regions. These NF1 microdeletions are subclassified ...

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a p…

Stewart(Douglas R),Cogan(Joy D),Kramer(Morde… Chest 2007-10-26

...NF1 is hypothesized to be secondary to an underlying vasculopathy.,We describe the entity we term NF1-associated PAH (NF...

Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast diff…

Leskelä(Hannu-Ville),Kuorilehto(Tommi),Riste… Bone 2009-03-03

...NF1) were operated for congenital pseudarthrosis (PA) of the tibia. Three non-NF1 patients served as reference. Both NF1...

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya(Meena),Spurlock(Gill),Monem(Bisma)… Hum Mutat 2010-09-28

...NF1 germline mutations detected in patients with PNF were similar to those detected in most NF1 patients. LOH of the NF1...

Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 …

Yang(L),Fu(J),Cheng(J),Zhou(B),Liu(X),Anucha… Mol Biol Rep 2023-02-00

...NF1 gene of NF1 disorder, expanding the NF1 mutation spectrum, that will help elucidate the molecular pathogenesis of NF...

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