Literature Search

Ramakrishnan(G),Parajuli(P),Singh(P),Friend(… Cell Rep 2022-00-08

...NF1 ablation culminates in acinar-to-ductal metaplasia, an early step in PDAC. Furthermore, NF1 haploinsufficiency resul...

Chillura(I),Restivo(GA),Callari(S),Cibella(S… Ital J Pediatr 2022-11-21

...NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations...

Buchholzer(S),Verdeja(R),Lombardi(T) Dermatopathology (Basel) 2021-01-07

...NF1. This article aims to review oral and cutaneous manifestations related to NF1 and to report a case of a 51-year-old ...

Garibotto(F),Madia(F),Milanaccio(C),Verrico(… Front Oncol 2020-00-00

...NF1 HGGs presented a PFS >4 months compared to 0% in NF1 patients. The 8-month OS of patients with non-NF1 HGGs was 81% ...

Hou(Y),Yu(L),Liu(D),Wilson-Lemoine(E),Wu(X),… J Am Acad Child Adolesc Psych… 2025-04-00

...NF1 (46% female; mean age = 9.69 years, SD = 2.60 years) and 4,895 children/adolescents without NF1 (48% female; mean ag...

Well(L),Döbel(K),Kluwe(L),Bannas(P),Farschts… PLoS Genet 2021-00-00

...NF1 whole gene deletions and to compare these with NF1 patients without large deletions of the NF1 gene. We retrospectiv...

Régnier(V),Meddeb(M),Lecointre(G),Richard(F)… Hum Mol Genet 1997-01-00

...NF1-related sequences. According to our results, the human genome contains at least 11 NF1-related sequences, nine of wh...

Wimmer(K),Mühlbauer(M),Eckart(M),Callens(T),… Eur J Hum Genet 2002-05-00

...NF1 gene mutation in a third family strongly associate spinal neurofibromatosis with the NF1 gene. We describe a NF1 pat...

Rowbotham(I),Pit-ten Cate(IM),Sonuga-Barke(E… Neuropsychology 2009-01-00

...NF1) is a genetic disorder characterized by partial loss of growth control that affects the central nervous system. NF1 ...

Diwakar(G),Zhang(D),Jiang(S),Hornyak(TJ) J Cell Sci 2008-01-15

...NF1) exhibit characteristic pigmentary lesions associated with loss of a single allele of NF1, encoding the 260 kDa prot...