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Familial café au lait spots: a variant of neurofibromatosis type 1.

Abeliovich(D),Gelman-Kohan(Z),Silverstein(S)… J Med Genet 1995-12-00

...NF1 locus was ruled out. In order to elucidate the relationship between familial CALS and NF1 further, we performed a li...

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental…

Brannan(CI),Perkins(AS),Vogel(KS),Ratner(N),… Genes Dev 1994-05-01

...NF1 in normal development and to try and develop a mouse model of NF1 disease, we have used gene targeting in ES cells t...

Neurofibromatosis 1: closing the GAP between mice and men.

Dasgupta(B),Gutmann(DH) Curr Opin Genet Dev 2003-02-00

...NF1-associated tumors or Nf1-deficient mouse cells is associated with elevated RAS activity and increased cell prolifera...

Neurofibromatosis 1 and dental caries.

Visnapuu(V),Pienihäkkinen(K),Peltonen(S),Hap… Clin Oral Investig 2011-02-00

...NF1 patients presented lower rate of caries compared to controls in age groups under 35 years. The differences between N...

The NF1 translocation breakpoint region.

O'Connell(P),Cawthon(RM),Viskochil(D),White(… Ann N Y Acad Sci 1991-00-00

...NF1 region. Two of them map between the NF1 translocation breakpoints; the remaining transcript maps just outside this r...

Novel mutations in one allele in a Chinese family with neurofibromatosis type 1…

Zhu(L),Shi(L),Wang(B),Bi(M),Pu(J),Zhang(L),Z… J Dermatol 2016-11-00

...NF1 mutations in the same allele have not been reported. Our findings expand the known spectrum of NF1 mutations and the...

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative var…

Paoloni-Giacobino(A),Blouin(JL),Nouspikel(T)… BMJ Case Rep 2024-05-02

...NF1 with a confirmed molecular diagnosis. In both cases, the NF1 variants featured a premature stop codon in the C-termi...

Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenes…

McGillicuddy(LT),Fromm(JA),Hollstein(PE),Kub… Cancer Cell 2009-07-07

...NF1 inactivation promotes sporadic tumorigenesis is unknown. Here we report that NF1 is inactivated in sporadic gliomas ...

Mice lacking neurofibromin develop gastric hyperplasia.

Lin(L),Chen(J),Richardson(JA),Parada(LF) Am J Physiol Gastrointest Liv… 2009-10-00

...NF1). However, the physiological and pathological functions of the Nf1 gene in the GI system have not been fully studied...

Cell autonomous requirement of neurofibromin (Nf1) for postnatal muscle hypertr…

Wei(X),Franke(J),Ost(M),Wardelmann(K),Börno(… J Cachexia Sarcopenia Muscle 2020-00-00

...NF1) is a multi-organ disease caused by mutations in neurofibromin 1 (NF1). Amongst other features, NF1 patients frequen...

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