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Neurofibromatosis type 1 and infantile spasms.

Ruggieri(M),Iannetti(P),Clementi(M),Polizzi(… Childs Nerv Syst 2009-02-00

...NF1 and (2) neurological problems in childhood. Ten NF1 patients have had IS. The calculated population-based: (1) preva...

Nf1 limits epicardial derivative expansion by regulating epithelial to mesenchy…

Baek(ST),Tallquist(MD) Development 2012-06-00

...Nf1) as a key mediator of epicardial EMT. To determine the function of Nf1 during epicardial EMT and the formation of ep...

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental n…

Messiaen(L),Vogt(J),Bengesser(K),Fu(C),Mikha… Hum Mutat 2011-02-00

...NF1. Independently, we identified a third patient with a mosaic type-1 NF1 deletion who exhibited segmental NF1. Togethe...

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and opt…

Sharif(S),Upadhyaya(M),Ferner(R),Majounie(E)… J Med Genet 2011-04-00

...NF1) affects 1 in 2500 people, and 15% of these may develop an optic pathway glioma (OPG). OPGs behave differently in NF...

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofib…

De Luca(A),Schirinzi(A),Buccino(A),Bottillo(… Hum Mutat 2004-06-00

...NF1) is one of the most common autosomal dominant disorders in humans, affecting 1 in 3500 individuals. NF1 is a fully p...

Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurof…

Greenwood(RS),Tupler(LA),Whitt(JK),Buu(A),Do… Arch Neurol 2005-12-00

...NF1 with hyperintensities, and (3) GM volume is inversely related to IQ in children with NF1. Wechsler Intelligence Scal...

NF1 gene mutations represent the major molecular event underlying neurofibromat…

De Luca(A),Bottillo(I),Sarkozy(A),Carta(C),N… Am J Hum Genet 2005-12-00

...NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other indiv...

Decreased bone mineral density in patients with neurofibromatosis 1.

Lammert(M),Kappler(M),Mautner(VF),Lammert(K)… Osteoporos Int 2005-09-00

...NF1 patients. Recent studies have suggested that decreased bone mineral density (BMD) may occur among patients with NF1....

[Activation of a trans-activating factor of NF1 transcription in a lactating ma…

Ivanov(VN),Kabishev(AA),Gorodetskiĭ(SI),Grib… Mol Biol (Mosk) 1990-00-00

...NF1-binding activity in nuclear extracts of bovine mammary gland during lactation. The NF1 transcription factor appears ...

The heterogeneous nature of germline mutations in NF1 patients with malignant p…

Upadhyaya(M),Spurlock(G),Majounie(E),Griffit… Hum Mutat 2006-07-00

...NF1). We have analysed lymphocyte DNA samples from 30 NF1 patients with MPNSTs to determine their underlying constitutio...

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